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POTENTIAL THEMATIC EUROPEAN

REFERENCE NETWORK APPLICATIONS

18 APRIL 2016

DRAFT

POTENTIAL NETWORK APPLICATIONS COORDINATING CENTRES COORDINATING LEAD

Rare Bone Diseases (BOND) Istituto Ortopedico Rizzoli, ITALY

Luca Sangiorgi

Rare Cancers and Tumours (Paediatric)

St. Anna Kinderkrebsforschung e.V. – AUSTRIA

Ruth Ladenstein

Rare Cancers and Tumours (Adult) TBC

Rare Cardiac Diseases Academic Medical Centre, Amsterdam- THE NETHERLANDS

Arthur Wilde

1 | P a g e RD-Action Potential Network Profile

Rare connective tissue and musculoskeletal diseases (ReCONNET)

Rheumatology Unit, Azienda Ospedaliero Universitaria Pisana- ITALY

Marta Mosca

Rare craniofacial and ENT TBC

Rare endocrine diseases (ENDO-ERN)

Leiden University Medical Centre – THE NETHERLANDS

Alberto Pereira

Rare Eye Diseases ERN-EYE

Hôpitaux Universitaires de Strasbourg - FRANCE

Helene Dollfus

Rare Gastrointestinal Diseases TBC

Rare gynaecological & obstetric diseases

TBC

Rare Haematological Diseases Hôpital St Louis/université Paris, FRANCE

Pierre Fenaux

Rare Hepatic diseases (ERN-LIVER) Newcastle Upon Tyne Hospitals – UNITED KINGDOM

David Jones

Rare Hereditary Metabolic disorders (MetabERN)

Centre for Rare Diseases (ZSE) Helios Dr. Schmidt Kliniken Wiesbaden - GERMANY

Maurizio Scarpa

Rare Immunological and auto inflammatory diseases

(RITA)

NUTH, UNITED KINGDOM Andrew Cant

Rare malformations and developmental anomalies and rare intellectual disabilities

Central Manchester University Hospitals, UNITED KINGDOM

Jill Clayton-Smith

Rare multisystemic vascular diseases TBC AP-HP Hopital Bichat, Service de Cardiologie Paris, FRANCE

Guillaume JONDEAU

Rare neurological diseases University Hospital Tübingen – GERMANY

Holm Graessner

Rare Neuromuscular diseases (EURO-NMD)

John Walton Muscular Dystrophy Research Centre, Newcastle Upon Tyne Hospitals UNITED KINGDOM

Kate Bushby

Rare Pulmonary diseases

(ERN LUNG)

Klinikum Goethe University Frankfurt - GERMANY

Thomas Wagner

Rare Renal diseases (ERKNET)

Heidelberg University Hospital - GERMANY

Franz Schaefer

Rare Skin disorders MAGEC (Centre de Référence Christine Bodemer


(ERN on Rare and Undiagnosed Skin Disorders)

des Maladies Rares et Génétiques à Expression Cutanée), Service de Dermatologie, Hôpital Necker Enfants Malades – FRANCE

Rare Urogenital Diseases Sheffield Teaching Hospitals NHS Foundation Trust – UNITED KINGDOM

Chris Chapple

Rare and Complex epilepsies

(Epi-CARE)

UCL Institute of Child Health - UNITED KINGDOM

Helen Cross


1. RARE BONE DISEASES (BOND)

NETWORK APPLICATION COORDINATE - ISTITUTO ORTOPEDICO RIZZOLI, ITALY

Please give a brief overview of the network proposal below:

The BOND ERN on Rare BONe Diseases gathers together two vast care and research groups in Europe: Skeletal Dysplasia and Metabolic Bone Diseases. By working together, these two subgroups will aim at improving and building up, at European level, Integrated care common pathways and integrated research programmes. In addition, working in a unique Network, will facilitate an holistic approach to patients, especially affected by certain overlapping rare diseases, such as Osteogenesis Imperfecta.

The Network pursues the following common purposes:

Knowledge and expertise to diagnose, follow up and manage patients.

High level expertise - production of good practice guidelines, outcome measures and quality control.

Contribution to research.

Teaching and training.

Collaboration with other centres of expertise and networks.

1. THEMATIC AREA

The network thematic area will be Rare Bone Diseases. The Network is composed by two macro groups that decided to work together within a single ERN: Skeletal Dysplasia and Metabolic Bone Diseases.

2. STRUCTURE OF THE POTENTIAL NETWORK


The organization of the work is a key factor to enable the project to function successfully.

Responsibilities of each phase of the project will be designated so at any given time and stage state

and needs of work-packages are known and maintained under control.

Leading principles of the project management and coordination will be:

Transparent and democratic distribution of tasks and responsibilities;

Efficient workflow and coordination between HCP and the project areas/tasks in order to ensure

an optimal functioning.

In order to warrant the best administrative, technical and scientific quality of the workflow, since the

very beginning of the ERN on Rare Bone Diseases three governance boards will established, with

specific roles in the overall structure of the ERN:

a) Management Committee (MC);

b) Steering Committee (SC);

c) Scientific Advisory Board (SAB).

The governance boards have specific roles in the overall structure of the ERN.

3. COMMON OBJECTIVES

Promote and sustain good practice

Organise and manage all relevant information/data

Help to diffuse valid information to patients, other healthcare providers and the public

Teleconsultation/Tele expertise

Training and teaching

4. DISEASES/CONDITIONS COVERED BY THE NETWORK

Please list rare diseases, complex conditions or highly specialised interventions covered under the

Thematic Grouping heading and supporting sub-domains

congenital chondrodystrophy

congenital osteodystrophy

osteochondrodysplasia

Multiple exostoses , Multiple cartilagineous exostoses, Multiple osteochondromas, Bessel-Hagen disease

Multiple epiphyseal dysplasia

Pseudoachondroplasia, Pseudoachondroplastic dysplasia Pseudoachondroplastic spondyloepiphyseal dysplasia

Diastrophic dysplasia


Osteogenesis Imperfecta, Brittle bone disease Glass bone disease Lobstein disease OI Osteopsathyrosis Porak and Durante disease

Osteogenesis imperfecta Typ 1, Mild osteogenesis imperfecta ; Non-deforming osteogenesis imperfecta

Osteogenesis imperfecta Typ 2 Lethal osteogenesis imperfecta Osteogenesis imperfecta Typ 3 Severe osteogenesis imperfecta ; Progressive deforming osteogenesis imperfecta

Osteogenesis imperfecta Typ 4 ) : Osteogenesis imperfecta type 6 ; Osteogenesis imperfecta type 7 ; Osteogenesis imperfecta type 11 ; Moderate osteogenesis imperfecta

Osteogenesis imperfecta TypE 5 Moderate osteogenesis imperfecta

Osteoporosis, idiopathic juvenile

Hypophosphatasia, HPP Phosphoethanolaminuria Rathburn disease

OSTEOPOIKILOSIS, ISOLATED

Melorheostosis with osteopoikilosis; MSBD syndrome Mixed sclerosing bone dystrophy

Buschke-ollendorff sindrome di (BOS) Disseminated dermatofibrosis with osteopoikilosis

Metachondromatosis

Pycnodysostosis

Osteopetrosis

Ehlers-Danlos syndrome

ehlers danlos syndrome, classic type

Ehlers-Danlos syndrome, vascular type Ehlers-Danlos syndrome, hypermobility type; ) BJHS Benign joint hypermobility syndrome EDS III Ehlers-Danlos syndrome type 3 Ehlers-Danlos syndrome, hypermobile type HT-EDS

Ehlers-Danlos syndrome, arthrochalasis type

Ehlers-Danlos/osteogenesis imperfecta syndrome

Enchondromatosis, Ollier Disease, Dyschondroplasia

Maffucci Syndrome

Marshall Syndrome

Stickler Syndrome

Kniest dysplasia

Neurofibromatosis TYPE 1

Fibrous dysplasia of bone

Monostotic Fibrous dysplasia of bone

Polyostotic fibrous dysplasia

McCune-Albright syndrome

Léri-Weill dyschondrosteosis, Léri-Weill Syndrome

Spondyloepiphyseal dysplasia congenita

Spondyloepiphyseal dysplasia tarda

Trichorhinophalangeal syndrome

Trichorhinophalangeal syndrome type 1 and 3


Trichorhinophalangeal syndrome type 2, Langer-Giedion syndrome

Autosomal dominant spondylocostal dysostosis

Autosomal recessive spondylocostal dysostosis, Jarcho-Levin syndrome

Isolated Klippel-Feil syndrome

Klippel-Trénaunay syndrome Klippel-Trénaunay-Weber syndrome, Angioosteohypertrophic syndrome

Holt-Oram syndrome

Achondroplasia

Prader-Willi syndrome; Prader-Labhart-Willi syndrome Willi-Prader syndrome

Marfan Syndrome Arthrogryposis multiplex congenita, AMC Amyoplasia congenita Arthromyodysplasia congenita Congenital amyoplasia Congenital arthromyodysplasia Multiple congenital arthrogryposis Myodysplasia Freeman Sheldon; Craniocarpotarsal dysplasia Craniocarpotarsal dystrophy Distal arthrogryposis type 2A Whistling face syndrome

Sheldon-Hall syndrome; Distal arthrogryposis type 2B Freeman-Sheldon syndrome variant

Dysplasia epiphysealis hemimelica, Trevor disease

Caffey disease, Infantile cortical hyperostosis

Nail-Patella Syndrome, Onychoosteodysplasia Turner-Kieser syndrome

X-linked hypophosphatemia

Hypophosphatemic rickets

Poland syndrome, Poland anomaly, Poland sequence

MPS4 MPSIV Morquio disease Mucopolysaccharidosis type IV

Ellis Van Creveld syndrome

Mucopolysaccharidosis

Cleidocranial dysplasia, Cleidocranial dysostosis

Histiocytosis X, Langerhans cell granulomatosis; Langerhans cell histiocytosis

Multiple angiomatosis of bone (Gorham Stout diseas Paget-Syndrome, juvenile Rachitis, hypokalzämische, Vitamin D-dependent HPP Hypoparathyreoidismus (HDR) Hypoparathyreoidismus, autoimmune Typ Hypoparathyreoidismus, isolated Pseudohypoparathyreoidism Typ 1A Pseudohypoparathyreoidism Typ 1B Pseudohypoparathyreoidism Typ 1C Pseudohypoparathyreoidism Typ 2 Hypoparathyreoidism familiar Rickets hypophosphatemic, autosomal-dominant Rickets hypophosphatemic, Hypercalciuria Primary Hypomagnesimea, autosomal-dominant


Hypokalcemia, autosomal-dominant McCune-Albright-Syndrome Osteoporosis, idiopathic juvenile Osteogenesis imperfecta Duchenne- und Becker- muscular dystrophies Fibrodysplasia ossificans progressiva FOP Blount-Syndrome Ehlers-Danlos-Syndrome Marfan and Marfan-related Langer-Giedion-Syndrome Tricho-rhino-phalangeales Syndrome, Type 1 und 3 TRPS Gorham-Stout Syndrome Stüve-Wiedemann-Syndrome acute myeloblastic leucemia Ewing sarcoma Osteosarcoma Akute lymphatische Leukämie Blackfan-Diamond - Anämie Fanconi - Anemia Dent Syndrome

5. COVERAGE

1. COUNTRY 2. INCLUDED IN APPLICATION 3. NO. OF HCP IN NETWORK APPLICATION

Austria Yes (ADD NUMBER OF HCP IN APPLICATION)

Belgium Yes …

Bulgaria Yes …

Croatia tbd …

Cyprus Yes …

Czech Republic Yes …

Denmark Yes …

Estonia tbd …

Finland Yes …

France Yes …

Germany Yes …

Greece Yes …

Hungary tbd …

Ireland Yes …

Italy Yes …

Latvia tbd …

Lithuania tbd …

Luxembourg tbd …

Malta Yes …

Netherlands Yes …

Poland Yes …

Portugal Yes …

Romania tbd …

https://en.wikipedia.org/wiki/Austria

https://en.wikipedia.org/wiki/Belgium

https://en.wikipedia.org/wiki/Bulgaria

https://en.wikipedia.org/wiki/Croatia

https://en.wikipedia.org/wiki/Cyprus

https://en.wikipedia.org/wiki/Czech_Republic

https://en.wikipedia.org/wiki/Denmark

https://en.wikipedia.org/wiki/Estonia

https://en.wikipedia.org/wiki/Finland

https://en.wikipedia.org/wiki/France

https://en.wikipedia.org/wiki/Germany

https://en.wikipedia.org/wiki/Greece

https://en.wikipedia.org/wiki/Hungary

https://en.wikipedia.org/wiki/Republic_of_Ireland

https://en.wikipedia.org/wiki/Italy

https://en.wikipedia.org/wiki/Latvia

https://en.wikipedia.org/wiki/Lithuania

https://en.wikipedia.org/wiki/Luxembourg

https://en.wikipedia.org/wiki/Malta

https://en.wikipedia.org/wiki/Netherlands

https://en.wikipedia.org/wiki/Poland

https://en.wikipedia.org/wiki/Portugal

https://en.wikipedia.org/wiki/Romania


Slovakia tbd …

Slovenia tbd …

Spain Yes …

Sweden Yes …

United Kingdom Yes …

6. IT NEEDS

Please indicate your network’s specific IT needs. If you can, specify blocks of services that you will

need in the first version of the IT platform and stress the minimum requirements for networks to

become operational.

In order to function properly, the ERNs will require an online platform that can address different

needs and is compatible with other tools that might already be in use. Some networks might require

a full package of services while others might only need particular additions and relevant add-ons.

Collaborative research goals will be pursued by developing interoperability solutions, such as

common communication and ICT tools for diagnosis purposes, or clinical guidelines and protocols

favouring patients "bridging" among different ERNs.

Collaborative research across ERNs will be fed up also by developing, where possible, common

training and education strategy plans. These plans will be implemented through the support of the

same communication and ICT tool mentioned before, by integrating in them an e-learning platform

with the possibility to exchange and access guidelines, protocols, case studies, scientific boards.

Clinical and communication IT solutions increasing interoperability and standards:

web system supports researchers in management of complex clinical cases

through online consultations among experts world-wide ((Multiple video

conferencing, case record repository (NMR, PET, CT));

Collaborative review of clinical cases with the possibility to share images in

high quality, providing a tool for easily transfer files of big size. Data

acquisition from external sources (the patient) and directly from PACS, LIS, RIS

(in accordance to the ethical regulations of the contributing countries);

Follow up clinician-patient teleconsultation through Hub & Spoke Model;

E-learning platform (training in secondary Centers), video tutorials for patients

and associations;

integrated tools for Rare Diseases Board review.

6. ADDITIONAL COMMENTS

None.

https://en.wikipedia.org/wiki/Slovakia

https://en.wikipedia.org/wiki/Slovenia

https://en.wikipedia.org/wiki/Spain

https://en.wikipedia.org/wiki/Sweden

https://en.wikipedia.org/wiki/United_Kingdom


2. RARE CANCERS AND TUMOURS (PAEDIATRIC)

NETWORK APPLICATION COORDINATE - ST. ANNA KINDERKREBSFORSCHUNG, AUSTRIA

Please give a brief overview of the network proposal below …

1. THEMATIC AREA

The network thematic area will be “Paediatric Haemato-Oncology” (PO-ERN)


The organisational structure will be based on the structure of the predecessor project ExPO-r-Net (European Expert Paediatric Oncology Reference Network for Diagnostics and Treatment)

Figure 1: Organisational structure of ExPO-r-Net as a basis for our PO-ERN structure

PMT = PO-ERN Management Team, PC = PO-ERN Coordinator, PM = PO-ERN Manager, DM = Dissemination Manager, EAC = Ethics Advisory Committee, PPAC = Parent/Patients Advocacy Committee, ECRC = European Clinical Research Council, PanCare = Pan-European Network for Care of Survivors after Childhood and Adolescent Cancer

*Composition of the General Assembly: - ExeCom - Affiliated partners - ECRC Chairs of the European Leukemia and Tumor Groups (e.g. IBFM, SIOPEN, SIOPEL, LCMM, EPSSG, EWING etc.) and Chairs of the European Pediatric Hemato-Oncology Societies - SIOPE Board - PPAC - EAC - PanCare - ITCC = Innovative Therapies for Children with Cancer - ENCCA TYA ( Teenager and Young Adults with Cancer European Group) Leaders The objective of this management structure within the consortium is to ensure the opportunity to take rapid and efficient decisions (i.e. avoid status-quo or a blocking situation) whenever necessary and simultaneously to allow each individual organisation representation - in order to - anticipate and avoid the occurrence of disagreements/conflicts. The chosen structure will:


• Ensure that strategic decisions can be made • Allow a close collaboration between the strategic and operational level and the integration of external collaboration via integrative management of the Project Management Team • Limit the use of veto power…

ADD GOVERNANCE STRUCTURE

The Strategic Management will be performed by the: • General Assembly (GA) • Executive Committee (ExeCom) • PO-ERN Management Team (PMT) With the advisory support of the: • European Clinical Research Council (ECRC) • Parents/Patients Advocacy Committee (PPAC) • Ethical Advisory Committee (EAC)


Building a Paediatric Oncology (PO) European Reference Network (ERN) provides paramount requirements for ‘Cross-border healthcare’ allowing the provision of healthcare to children and young people with cancer in a Member State other than the Member State of affiliation. We identified the target groups who have conditions that require a particular concentration of resources or expertise, especially when the expertise with certain cancer conditions is rare and case volume low. Our PO-ERN aims to reduce the current inequalities in childhood cancer survival and healthcare capabilities in different member states. The main objective is to establish a PO-ERN linking pre-existing reference centres inherent to the Cooperative PO- Clinical Trial Groups which may contribute high-level diagnostic and medical expertise to provide cross-border best care to rare childhood cancer populations. This allows improving access to high-quality health care for children with cancer whose conditions require specialised resources or expertise not widely available due to low case volumes and lack of local resource.

Taking into account the potential burden on families seeking cross border health care, i.e. leaving their cultural and language environment and entering social isolation for treatments that may extend over many months, the PO-ERN seeks mechanisms to facilitate movement of information and knowledge rather than patients whenever possible. We aim to extend local and national ‘tumour board’ culture to the cross border level by identifying and assessing the required ICT (Information Communication Technology) tools and eHealth networks. High-quality, accessible and cost-effective healthcare for childhood cancer are achieved by strengthening the integration of pre-existing knowledge and expertise, and fostering stronger cooperation between patients, professionals and healthcare authorities.

The strategic relevance of our PO-ERN is the generation of information and provision of a framework that can truly improve standards of care for children and young people with cancer. In addition we incorporates the expertise from right across Europe and collate existing information to help patients get access to the best possible information, treatment and care.

The innovative contribution is of our PO-ERN is a clear roadmap to approved expert referral sites and tumour advisory boards for healthcare providers. We support eHealth solutions based on interoperability and standardisation: this helps professionals to work more efficiently and exchange information and data that are essential for tumour boards providing advice and expertise beyond local institutional borders. Our PO-ERN has been designed to be compatible and supportive to


existing actions and EU-funded projects like ExPO-r-Net, ENCCA, PanCareSurFup, IntReALL and EPAAC.




DISEASE ENTITIES (and important organisations) already covered by ExPO-r-Net associated and

collaborating partners with a CRC-CT International Coordinating Site Role:

1. Neuroblastoma (LINES, HR-NBL, LT-GD2) 2. LCH 3. ALL (ALL 2009, INTREALL, Interfant-6, ALL-SCT) 4. Retinoblastoma 5. Hepatoblastoma 6. Very rare Tumors 7. EBMT 8. STS (CWS, EpSSG) 9. Osteosarcoma 10. Ewing Sarcoma 11. Brain Tumors 12. Germ Cell Tumors 13. PANCARE 14. TYA

NOT YET COVERED but intened to be included:

1. AML 2. Hodgkin Lymphoma 3. Non-Hodgkin Lymphom) 4. Brain Tumour Subentities.

5. COVERAGE (STILL OPEN TO ADAPTIONS, SOME MAY NOT MANAGE THE 1ST RUN AND

FOLLOW LATER)

4. COUNTRY 5. INCLUDED IN APPLICATION 6. NO. OF POTENTIAL HCP IN NETWORK APPLICATION

Austria Yes 1-2

Belgium Yes 1

Bulgaria Not known yet 1

Croatia Not known yet 1

Cyprus No -

Czech Republic Yes 1-2

Denmark Yes 1

Estonia Yes 1

Finland Yes 1

France Yes 2-5

Germany Yes 5-12

Greece Yes 1

Hungary Yes 1

Ireland No -

Italy Yes 2-7

















Latvia Yes 1-2

Lithuania Yes 1

Luxembourg No -

Malta No -

Netherlands Yes 1-2

Poland Yes 3-5

Portugal Not known yet …

Romania Not known yet …

Slovakia Yes 1

Slovenia Yes 1

Spain Yes 2-6

Sweden Yes 1-2

United Kingdom Yes 2-6

6. IT NEEDS

- Standardized (IHE-based) interoperable life virtual tumour board (VTB) application to give cross

border advice for twinning programs with countries with low health expenditure rate (LHEAR-

countries) and less favourable disease outcome. The life VTB will be a tool to support teaching an

training.

to discuss different paediatric tumour cases and give advice to LHEAR country centres fulfilling

the standards of care

should be available to all PO-ERN partners

- Virtual Case Consultation System for temporally and locally dissociated interaction between

requesting clinician and tumour entity specific experts. This is a user oriented application for

tumour entity specific PO-ERN subnetworks like Hepatoblastoma (SIOPEL), Retinoblastoma and very

rare tumours to give virtual advice in complicated very rare cases. The VCS should support training

and teaching but should also serve research purposes by building entity specific registries where

case volume is very low and the disease is so rare, that no clinical trials were yet performed.

- Virtual Late Effects Centre (Survivorship passport): As 80% of young people with cancer are now

surviving, it is essential that health systems are able to deal with this ever-impressing figure by

informing all relevant stakeholders on possible risks or late effects of the cancer treatment received.

Most survivors do not have precise information on the treatment they received as children, their GP

doesn’t know enough about toxicity and long term consequences of treatment and they do not

know where to go when a health problem arises. The current lack of information on many patients’

medical history becomes particularly critical as children become adults or as they move to another

country. The Survivorship Passport provides relevant information on the medical history of patients

who ended a cancer therapy, making survivors, GPs and healthcare professionals aware of the

potential risks or late effects stemming from the previous disease and treatment received.

All three systems have been and developed in previous projects and are now entering

implementation phase. As an eHealth Interoperability architecture for our PO-ERN with the

potential to be used and adapted by any other ERN we propose the following structure:
















None.

3. RARE CANCERS AND TUMOURS (ADULT)

Not available.


4. RARE CARDIAC DISEASES

GUARD-HEART: GATEWAY TO UNCOMMON AND RARE DISEASES – HEART

NETWORK APPLICATION COORDINATE: ARTHUR AM WILDE, MD PHD – ACADEMIC

MEDICAL CENTER, AMSTERDAM, THE NETHERLANDS

The GUARD-HEART network aims to bring together EU expertise on rare cardiac diseases

1. THEMATIC AREA

The network thematic area will be “Rare Cardiac”


NETWORK STRUCTURE

GUARD-HEART EU Reference Network Coordination

Inherited cardiac diseases Congenital heart disease Rare cardiac

diseases

Electrical disease:

- LQTS - Brugada Syndrome - CPVT

Cardiomyopathies Paediatrics Adults Rare cardiac

diseases (other)

Involvement of EU working groups (EHRA, CMP’s, GUCH), AEPC, etc.

Health Care Provider (HCP) criteria

Minimal no pts: 300 (cumulated)

Minimal no publications (<5 y): 10

Multidisciplenary approach mandatory (incl genetics)

Specialized Electrophysiology Unit

Minimum No of experts 2

Minimal no pts: 300 (cumulated)


Multidisciplinary approach mandatory (incl genetics)

Specialized Electrophysiology Unit

Specialized intervention Unit (biopsies, interventions)


Minimal no pts: 500


Multidisciplenary approach mandatory

Pediatric Cardiac Surgery present (≥ 375 proc).

Minimum No op invasive procedures: 100 interventions


Minimal no pts: 500


Multidisciplenary approach mandatory

GUCH Cardiac Surgery present (>100 proc.)

Minimum No op invasive procedures: 100


Diseases: Sarcoidosis, Tumours

Per rare disease a minimum of 10 pts and 10 publications (<5 y).

GOVERNANCE STRUCTURE

Decision- General assembly


making body

- Network Coordinator - Member representatives

Operational bodies

Executive board - Network Coordinator

- Steering committee chairs

Steering Committees (SC) - Member representatives assigned as steering committee chairs

- Member representatives - Associated and collaborative partners

SC-1 SC-2 SC-3 SC-4 SC-5

Inherited cardiac diseases

Cardiomyopathies

Paediatric congenita

l heart disease

Adults congenita

l heart disease

Rare cardiac diseases

The General Assembly’s responsibilities are strategic and focused on decisions that affect the Network’s long-term sustainability. The rules and procedures include the functioning and coordination of the General Assembly; the role of the Network Coordinator and the Member representatives and Steering Committees. These also include how information about the Network will be updated and made public such as the scope, e.g. thematic area of expertise, diseases or groups of diseases covered; overall structure and characteristics; and contact information, e.g. address and contact details of the Coordinating Member, each Member representative, steering committee chairs and any Associated and Collaborative Partners.

Legal criteria for the participation of HCPs in the network:

Endorsement letter (recognition as a national centre of expertise)

Completed HCP Self assessment form, all operational criteria should be fulfilled.


EU cross-border cooperation of the best medical specialist to treat rare cardiac diseases that require highly specialized healthcare

Concentrate highly specialized health care, pooling knowledge, improving diagnosis and care.

Focus on patient-centred multidisciplinary healthcare

Improve quality and safety of and access to specialized healthcare

Improve specialized medical education, specialty training and scientific research


Inherited Heart Diseases (Electrical diseases and cardiomyopathies)

Congenital heart Disease (Paediatrics, adults)

Other rare cardiac disease (e.g. Sarcoidodis, tumours)

5. COVERAGE


Austria Yes 1

Belgium Yes 1

Bulgaria No (not yet) …

Croatia No (not yet) …






Cyprus No (not yet) …

Czech Republic No (not yet) …

Denmark No (not yet) …

Estonia No (not yet) …

Finland Yes 1

France Yes 3

Germany Yes 2

Greece No (not yet) …

Hungary No (not yet) …

Ireland No (not yet) …

Italy Yes 5

Latvia No (not yet) …

Lithuania Yes 2

Luxembourg Yes 1

Malta No (not yet) …

Netherlands Yes 4

Poland No (not yet) …

Portugal No (not yet) …

Romania Yes 1

Slovakia No (not yet) …

Slovenia No (not yet) …

Spain Yes 3

Sweden No (not yet) …

United Kingdom Yes 3

6. IT NEEDS

For internal communication purposes:

Web-based management tool: A web-based tool for project management specifically for

international EU networks. This tool should combine functionalities for central document sharing,

progress monitoring, and reporting. It will be used for all the documentation (policies, deliverables,

publications, management procedures, strategies, regular reports, minutes, etc.) The content of the

database should be regularly updated and restricted by secure access control to member

representatives. This common database should also allow to keep network members informed real-

time on the progress of the steering committees, the results being achieved, and all the documents

being generated by the Network. Access to this tool should be granted to the member

representatives for the duration of the network.

For external communication purposes:

An easy-to-manage public website: The public-accessible area will include information on the

network (scope,, thematic areas of expertise, diseases or groups of diseases covered, overall

structure and characteristics as well as information on the steering committees (progress, report,

contact information). This will fulfill the Network’s recognition of the importance of public

awareness of a Rare Cardiac Diseases EU Reference Network. The website will also include links to

relevant societal initiatives, scientific publications and research achievement of network members.

The website should be launched in Month 1 of the ERN network and continuously be updated during

the course of the network. The Network Coordinator wll be responsible for the content management


























and the regular activity on this website. The network members will gather and deliver content for

the several feeds, updates, and articles.


The topics under Rare Cardiac Diseases involve a large number of diseases involving many medical

specialities. In order to avoid an unacceptable large numbers of centres (and an unmanageable ERN)

we do require several certain ‘entry criteria” (see section 2 of this document). The number of

centres provided in section 5 of this document includes all centres that have applied via various

ways. Whether or not they fulfil the application criteria have not been judged yet.

5. RARE CONNECTIVE TISSUE AND MUSCULOSKELETAL DISEASES (RECONNET)

NETWORK APPLICATION COORDINATE MARTA MOSCA

ReCONNET will be a common platform to improve early diagnosis and treatment of rare connective

and musculoskeletal diseases, to bring expertise to patients, to facilitate access to therapy and to

coordinate clinical assistance. The network will also aim at improving knowledge on rare connective

and musculoskeletal diseases for physicians, healthcare providers, patients and families.

1. THEMATIC AREA

Rare autoimmune and hereditary connective and musculoskeletal diseases


The ERNs has a coordinating member and a medical executive board (MEB) formed by the

coordinators and the funding members of the ReCONNET network as well as patients

representatives. The MEB aim is to collect and coordinate the different centers, to monitor

advancements of the network activities and to review the activities of each “disease specific” group.

A global advisory board will include the members of the medical executive board and a chair for

each disease specific subgroup as well as patients representatives.

Individual healthcare providers do not need to align with all themes or have expertise in all areas

within a particular ERN.

The ERN will include already existing networks on specific diseases (systemic sclerosis, anti-

phospholipid syndrome, poly-dermatomyositis, anti-synthetase syndrome, Systemic lupus

erythematosus, Sjögren’s syndrome) covering the majority of EU countries.


1- Development of a common IT platform to connect different actors of patients care, facilitate

case discussions and referral and to improve consultation between patients, patients

organizations, healthcare providers, academia, policy makers.


2- Development of common processes to facilitate access to specialized centres.

3- Development of common tools to improve quality of care: registries and databases,

identification of advanced diagnostic tools and patient care management protocols (such as

recommendations).

4- Development of training activities for healthcare professionals: webinars, online training

programmes and courses on specific diseases.

5- Fostering research activity and clinical trials development across European countries.


1. Systemic sclerosis

2. UCTD

3. MCTD

4. Poly-dermatomyositis

5. Anti-synthetase

6. Anti-phospholipid

7. SLE (as complex condition)

8. Sjögren (as complex condition)

9. IgG4

10. Polychondritis

11. Ehlers- Danlos

12. Marfan

5. COVERAGE


Austria Yes 1

Belgium Yes 2

Bulgaria no 0

Croatia no 0

Cyprus no 0

Czech Republic contacted 1

Denmark contacted 1

Estonia No 0

Finland No 0

France Yes 4

Germany Yes 3

Greece Yes 1

Hungary Contacted 1

Ireland No 0

Italy Yes 7

Latvia No 0

Lithuania No 0

Luxembourg No 0

Malta No 0

Netherlands Yes 3

Poland Contacted 1

Portugal Yes 1

Romania Contacted 1

























Slovakia No 0

Slovenia No 0

Spain yes 1

Sweden yes 1

United Kingdom yes 1

6. IT NEEDS



become operational

Development of a common IT platform to connect different actors of patients care, facilitate case

discussions and referral and to improve consultation between patients, patients organizations,

healthcare providers, academia, policy makers.

The IT platform could also provide the basis for education and training.


None.







6. RARE CRANIOFACIAL ANOMALIES AND ENT DISORDERS

NETWORK APPLICATION COORDINATE PROF. DR. IRENE MATHIJSSEN


1. THEMATIC AREA

The field of rare craniofacial anomalies particularly concerns the care for children and adults with

congenital anomalies of skull and face that have a prevalence of less than 1 in 2,000 births. Within

the field, craniosynostosis, either the isolated or the syndromic form, is the most significant

diagnosis with an overall prevalence of 1 in 2,100 births. Other disorders are even more rare and

concern congenital anomalies such as hemifacial microsomia and Treacher Collins syndrome. In the

early 70’s surgical treatment options were being developed and these pioneers established several

craniofacial teams within Europe. Within the teams multidisciplinary and coordinated care is

provided and a longstanding expertise with treating rare craniofacial anomalies has been obtained.

These teams are joined in the European Society of Craniofacial Surgery (ESCFS), which was

established in 1984 by dr Daniel Marchac from Paris. The ESCFS has a conference meeting every

other year and a business meeting each year. Next to this European society, all are member of the

International Society of Craniofacial Surgery (ISCFS) which was founded in 1983 and always has had a

strong European representation.

The network thematic area will be “THEMATIC GROUPING HEADING”


The structure of the network is outlined in the attached powerpoint.

With regard to national recognition as (one of) the referral center for craniosynostosis, this applies

to France, the United Kingdom, Sweden, Ireland, Spain, Finland and the Netherlands. Given their

longstanding expertise in multidisciplinary care for these rare conditions with ongoing teaching,

education and research programs, , we suggest that the teams from Paris, London, Gothenburg,

Dublin, Madrid, Berlin, Helsinki, Athens, and Rotterdam will be board members.



The objectives concern aspects of 1. organization of craniofacial care, 2. education of both referring care givers for early recognition of the conditions and training of new craniofacial team members 3. Improving outcome of care by obtaining standard outcome measures and benchmarking, 4. Initiating selfmanagement of the patient, 5. Innovation of care through scientific research.

The participating craniofacial teams have a high standard of organization that is required. Their experience can be applied in helping other countries set up their centers according to this criteria. Within the ESCFS the initiative for developing standard outcome measures are being taken and an ICHOM set for hemifacial microsomia is being developed. This will also be undertaken for craniosynostosis and includes PROMS. The collaboration with patient societies will boost the initiation of selfmanagement within the lifelong care plan for craniofacial patients. The caregivers, patients and parents together set the agenda for scientific research based on a gap analysis.


- Craniosynostosis, unisutural, non-syndromic

- Craniosynostosis, syndromic (eg Apert and Crouzon syndrome)


- Hemifacial microsomia

- Treacher Collins syndrome (and similar diagnoses such as Nager syndrome)

- Frontonasal dysplasia

- Rare facial clefts according to the Tessier classification, midline and oblique (NOT including

the common cleft lip or cleft lip/palate)

- Pierre Robin sequence in syndromic and non-syndromic cases

- Frontal and basal encephaloceles

- Craniofacial fibrous dysplasia

- Microtia

- Hypertelorism

- Craniofacial presentation of neurofibromatosis

- Very rare conditions such as cherubism, hemifacial hypertrophy, Freeman-Sheldon

syndrome, Kabuki syndrome, OFD syndrome etcetera

- ENT disorders to be split up at the discretion of the experts

5. COVERAGE


Austria No (ADD NUMBER OF HCP IN APPLICATION)

Belgium No …

Bulgaria No …

Croatia No …

Cyprus No …

Czech Republic No …

Denmark No …

Estonia No …

Finland Yes 1

France Yes 1

Germany Yes 1

Greece Yes 1

Hungary No …

Ireland Yes 1

Italy No …

Latvia No …

Lithuania No …

Luxembourg No …

Malta No …

Netherlands Yes 2

Poland No …

Portugal No …

Romania No …

Slovakia No …

Slovenia No …

Spain Yes 1

Sweden Yes 2































6. IT NEEDS

An European wide registry on phenotype, genotype, diagnostic tests and standard outcome

measures would be required. It will aid in unifying definitions of not fully delineated diagnostic

groups (such as Robin sequence), benchmarking between centers to recognize best practice, and

scientific research for instance regarding genetic background of craniofacial anomalies. Several units

already have such a national database, which can be made available to the other centers.

Particularly privacy regulations hamper the exchange of certain data at present and workable

solutions with respect of privacy should be sought.

A platform at which physicians can interactively discuss difficult cases would also be beneficial,

At present there is a variety of involvement of patients with their provided care. Apart from official

patient societies, there is a vast number of patients and parents that are active in social media, and

for instance Facebook has several active groups for specific craniofacial disorders. Bringing these

groups together on an European level would be very beneficial, especially for the very rare

conditions.

Within the hospitals there is an ongoing movement of using digital consultations in order to reduce

the number of hospital visits, while still being able to have interactive communication. This can be of

great value to enable easy consultations with another expert team in a different country.

Incorporation of a safe system for digital consultations would be great value.


Regarding the discussion whether or not cleft lip/palate should be included in this ERN, we feel that

based on the high prevalence this should not be the case. Cleft lip and/or palate occurs in 1 in 600

births and does not meet the criteria of a rare disease. Cleft palate is occasionally part of a

craniofacial syndrome, and thus is included in care from the perspective of the craniofacial

syndrome.

This form has been filled out based on the participants for craniofacial anomalies and thus the ENT

part of this ERN has not been taken into account yet. Based on the matchmaker two groups for

genetic hearing loss and upper airway anomalies seems appropriate.


7. RARE ENDOCRINE DISEASES (ENDO-ERN)

NETWORK APPLICATION COORDINATE: ALBERTO M. PEREIRA (COORDINATOR) / OLAF

HIORT (DEPUTY)

1. THEMATIC AREA

The network thematic area will be: “RARE ENDOCRINE DISEASES” (ENDO ERN)


Endo-ERN will be a broad thematic ERN, over-arching all rare endocrine disorders from birth to senescence with a unifying common denominator: ‘Excellency in diagnostics and treatment of hormone disturbances throughout life’ in which the main coordinating physician is a (pediatric) endocrinologist. At present, Endo-ERN has identified and will overarch 8 main Thematic groups: rare conditions affecting (1) adrenals, (2) calcium and phosphate homeostasis, (3) glucose & insulin homeostasis, 4) growth, (5) pituitary, (6) sex development and maturation, (7) thyroid, and (8) genetic endocrine tumour syndromes (not covered in the above categories) with potential subnetworks within the main thematic groups to cover ultra-rare disease networks.


The detailed governance structure of the proposed ERN will develop over the next few weeks and will include representation from pediatric and adult endocrinology in its steering committee and management board.

The thematic groups will be led by a chair and a co- chair (pediatric and adult); besides being experts in their area, these leads bring added value to the ERN and will contribute to the writing of the application. Their thematic groups will consist of nationally approved health care partners (HCP) with a track record in the care of people with the rare conditions within that theme; each thematic group will consist of a minimum of 5 member states (MS) and preferably more. They may host existing and future subnetworks of ultra-rare diseases. ESE and ESPE are working with EndoERN to identify suitable leads.


1. Facilitate improvements in diagnosis and the delivery of high-quality, accessible and cost-

effective healthcare for all patients with a medical condition requiring a particular concentration

of expertise in medical domains where expertise is rare.

2. Reinforce research, epidemiological surveillance like registries and provide training for

healthcare professionals.

3. Facilitate mobility of expertise, virtually or physically, and to develop, share and spread

information, knowledge and best practice and to foster developments of the diagnosis and

treatment of rare diseases, within and outside the European Reference Networks.


4. Encourage the development of quality and safety benchmarks and help develop and spread best

practice within and outside the European Reference Network.

5. Help Member States with an insufficient number of patients with a particular medical condition

or lacking technology or expertise to provide highly specialised services of high quality.




1: Adrenal: hyperadrenalism, hypoadrenalism/ adrenal cortical cancer.

2: Calcium and phosphate homeostasis: hypoparathyroidism, and other disorders further to be

determined associated with calcium and phosphate homeostasis.

3: Glucose & insulin homeostasis: genetic diabetes (Sweet consortium); Syndromic obesity (Prader

Willi network); Lipodystrophy

4: Growth: congenital growth disorders, acquired growth disorders, other disorders further to be

determined

5: Pituitary: pituitary adenoma; aggressive pituitary tumors; hypothalamic-suprasellar tumors;

congenital hypopituitarism, acquired hypopituitarism; hypophysitis,

6: Sex development and maturation: Chromosomal DSD, XX-DSD, XY-DSD (DSDnet);

hypogonadotropic hypogonadism / Kallmann syndrome (GnRHnet); gender dysphoria

7: Thyroid: congenital hypothyroidism, TH signaling defects, central hypothyroidism IGSF1, thyroid

cancer

8: Genetic endocrine tumour syndromes: multiple endocrine neoplasia type 1, -2. -3 and -4, SDH-

and VHL mutations, Carney Complex, McCune-Albright syndrome, to be further completed

5. COVERAGE (NOT TAKING INTO ACCOUNT WHTEHER NATIONAL ENDORSEMENT HAS

BEEN OBTAINED)

16. COUNTRY 17. INCLUDED IN APPLICATION 18. NO. OF HCP INTERESTED IN NETWORK APPLICATION

Austria Yes 1

Belgium Yes 3

Bulgaria Yes 3

Croatia Yes 1

Cyprus Uncertain 1

Czech Republic Yes 2

Denmark Yes 1-3

Estonia Yes 1

Finland Yes 1

France Yes 5-7












Germany Yes > 7

Greece Uncertain 1-2

Hungary Yes 2

Ireland Yes 1

Italy Yes > 13

Latvia Uncertain 1

Lithuania Uncertain 1

Luxembourg … …

Malta Yes 1

Netherlands Yes 9

Poland Uncertain 2-3

Portugal Uncertain 1

Romania Uncertain …

Slovakia No …

Slovenia Yes 1

Spain Probably yes > 3

Sweden Yes > 3

United Kingdom Yes > 9

Norway Yes 2

6. IT NEEDS



become operational.

General: Website, Register

Objective specific: Minimum requirements for information sharing dr to dr (imaging ie MRI )


The application will be primarily shaped around endocrine networks that are already in place and have a strong track record of collaboration at a European level.

We acknowledge potential overlap for specific subthemes with the rare Bone diseases ERN, the Rare Cancer & Tumors ERN, and the UroERN. The former will include rare conditions affecting bone including skeletal dysplasia, metabolic bone diseases and skeletal fragility, the second rare cancers including neuroendocrine tumors (NETs), and the latter congenital malformations of the urogenital system.

Tel meetings will be arranged to discuss these issues.

EndoERN is willing and prepared to embrace all patients with rare endocrine cancers that will not find a home in another ERN.

EndoERN is also willing and prepared to discuss the necessity to develop cross-bridges for these overlapping conditions.




















8. RARE EYE DISEASES (ERN-EYE)

NETWORK APPLICATION COORDINATE (ERN EYE )


1. THEMATIC AREA

The network thematic area will be RARE DISEASES OF THE EYE.


ERN EYE will cover most rare eye diseases, especially inherited ones, with 5 clinical fields that will be developed: Paediatric ophthalmology; RETINA; ANTERIOR SEGMENT; LOW VISION AIDS/DAILY LIFE and Hospital genetic diagnostics. We will address transversally the following fields: Research (especially clinical but also, preclinical and fundamental) – IT Platform & Registries – Dissemination and training


As proposed, the BOARD will include the HCPs and coordinator as well as patient representatives. A coordination committee has been set up and an advisory board is being set up.


- Bring the best care to patient with rare eye diseases across the EU

- Improve diagnostic tools (including NGS) across the EU

- Harmonize clinical and preclinical research across the EU

- Bring best pratices and training for rare eye diseases


Please list rare diseases, complex conditions or highly specialised interventions covered

under the Thematic Grouping heading and supporting sub-domains

There would be hundreds to mention, we give the main outlines:

Paediatric ophthalmology: eye developmental anomalies (i.e: aniridia, micorphtalmia),

congenital glaucoma, congenital cataracts; early onset retinal dystrophies, albinism, ….

RETINA; retinitis pigmentosa, macular dystrophies (inherited), optic neuropathies (inherited)

ANTERIOR SEGMENT; corneal dystrophies, rare forms of glaucoma,


LOW VISION AIDS/DAILY LIFE and Hospital genetic diagnostics: ALL PATIENTS

5. COVERAGE

19. COUNTRY 20. INCLUDED IN APPLICATION

21. NO. OF HCP IN NETWORK APPLICATION

Austria No 0

Belgium Yes 1

Bulgaria No 0

Croatia No 0

Cyprus No 0


Denmark Yes 1

Estonia Yes 1

Finland Yes 1 ?

France Yes 4

Germany Yes 4

Greece Yes 1

Hungary No 0

Ireland Yes 1

Italy Yes 2

Latvia Yes 1 (or collaborative member)

Lithuania Yes 1 (or collaborative member)

Luxembourg No 0

Malta No 0

Netherlands Yes 3

Poland No 0

Portugal Yes 1

Romania No 0

Slovakia No 0

Slovenia No 0

Spain Yes 2

Sweden Yes 0


6. IT NEEDS

Please indicate your network’s specific IT needs. If you can, specify blocks of services that

you will need in the first version of the IT platform and stress the minimum requirements for

networks to become operational.

The needs are very wide:

- Internal and external communication / website ( public and secured)

- Communication and conference tools Webconference

- FOR THE CLINICS: virtual clinic system






























- Transfer Exchange of high volume images ( fundus photographs , OCT, Ergs, …) need

for a server of sufficient capacity – TELECONSULTATION/TELEMEDECINE

- Web/Video conference for case studies and meetings

- Decision making tools

- Document repository

- Collaborative tools

- Training and e-learning tools


2 HCP in Norway and 1 in Switzerland would like to apply but we have to clarify possibilities.

The list of coverage is still preliminary and will depend on national authorities’ approvals.

Will the IT platform be accredited for EMA or FDA use of DATA?


9. RARE GASTROINTESTINAL DISEASES

ERN-CAM (CONGENITAL ANATOMICAL MALFORMATIONS OF THE GASTROINTESTINAL

TRACT)

NETWORK APPLICATION COORDINATE: PROF. RENE WIJNEN (ERASMUS MEDICAL

CENTRE ROTTERDAM)

1. THEMATIC AREA

The network thematic area will be “rare gastrointestinal diseases”


The ERN-CAM aims to create several platforms of networking centres involved in neonatal surgery for Congenital Anatomical Malformations of the gastrointestinal (GI) tract. The network will improve European quality of care of neonatal surgery of patients with a congenital anatomical malformation developed from the fore gut and reduce the long-term sequels of these rare diseases in new born infants. The diseases are focused on anatomical congenital malformations of the GI tract, or more basic originally developed from the fore gut.

The ERN will be led by a board of HCPs from at least 8-10 countries with one or several HCP per country. Each specific group of rare diseases will function through network platforms. Some of these platforms exist already while some other platforms still need to be developed (see structure below).


1. Contribute to the pooling of knowledge (For example: Development of a method for validation of data collection)


2. Facilitate improvements in diagnosis and delivery of high-quality care (For example: Define steps involved in the diagnosis (prenatal and postnatal) and treatment of rare congenital anatomical malformations of the gastrointestinal tract as well as expertise of operating surgeon and improve surgical outcomes).

3. Reinforce research, epidemiological surveillance and training for healthcare professionals (For example: Develop a reporting system using both electronic data acquisition at bedside and compilation of data away from the ward/bedside)

4. Encourage the development of quality and safety benchmarks and best practices (For example: Development of a system for evaluating outcome and effects of treatment on survival, neurological, respiratory, gastro-intestinal, renal, hepatic, nutritional, immunological and musculoskeletal function; quality of life and cost of treatment.




Esophageal Atresia (EA)

Congenital Diaphragmatic Hernia (CDH)

Duodenal and small bowel atresia

Biliairy atresia and choledochalcysts

AnoRectal Malformations (ARM)

Morbus Hirschspring (MH)

Gastroschisis

Omphalocele

Congenital Cystic Adenoid Malformation of the lung (CCAML)

Short Bowel Syndrome (SBS)

Others to be added at a later stage and once the network is established and functioning

5. COVERAGE


Austria Yes 1

Belgium Yes 1

Bulgaria … …

Croatia … …

Cyprus … …

Czech Republic … …

Denmark … …

Estonia … …

Finland Yes 1

France Yes 1

Germany Yes 2

Greece … …

Hungary … …















Ireland Yes 1

Italy Yes 2

Latvia … …

Lithuania … …

Luxembourg … …

Malta … …

Netherlands Yes 4

Poland … …

Portugal … …

Romania Yes 1

Slovakia … …

Slovenia … …

Spain Yes 1

Sweden Yes 1


6. IT NEEDS



become operational.

Clinical data exchange platform

System for data recording and transfer, on-line linkage and assessment of procedures

performed

Registry toolbox, including electronic patient data reporting and compilation system and

supporting system for addressing data protection requirements, ethics approval, etc.

System for collection of data, data transfer and networking of collaborating centres

eHealth communication platform incl. safe email exchange, telephone, video, and web

conferences compatible with national regulatory requirements

System that allows linking the electronic patient charts from each HCP with the central

registry/audit


In Austria, a small selection of centres in a limited number of disease areas has been approved while

it remains unclear for others if they will be able to receive endorsement.

For some centres, it might be very difficult to meet the deadlines set by some countries for the

provision of application materials in order to receive national endorsement (for example Belgium)

















10. RARE GYNAECOLOGICAL & OBSTETRIC DISEASES

Not available.


11. RARE HAEMATOLOGICAL DISEASES IN RARE HEMATOLOGICAL DISEASES

(EUROBLOODNET)

NETWORK APPLICATION COORDINATE JOAN LLUIS VIVES CORRONS, HOSPITAL CLINIC

OF BARCELONA, SPAIN

1. THEMATIC AREA

The network thematic area will be “Rare Haematological Diseases”


GOVERNANCE

1) Board of the ERN, decision making and assessment, chaired by the ERN coordinator and formed by:

o All members’ representatives o Scientific associations representatives (European Haematology Association) o Patient’s associations representatives (EURORDIS, TIF)

2) Scientific and strategic board, including:

o Coordinators Hubs o Coordinators of sub networks o Coordinators of fields of support action

3) Executive Board, execution of the plans and actions taken by the governance, formed by:

o ERN Coordinator o Coordinators Hubs o Members representatives o National Coordinators

4) Advisory board: Independent advisory bodies, formed by:

o Ethics and legal experts o IT experts o Industry o ECRIN-ERIC (or other European infrastructures)

COORDINATION

The network will be structured into two main hubs of coordination

Non-malignant diseases hub, coordinated by Prof Vives Corrons (Hospital Clínic of Barcelona)

Malignant diseases hub, coordinated by Prof Fenaux (Hôpital St Louis, Paris)

In order to assure a well balanced networking between the two main areas covered by the ERN, global coordination will equally rotate for the first five years of network functioning.

For the first period, global coordinator has been agreed to be Prof Vives Corrons.


TRANSVERSAL FIELDS OF SUPPORT ACTION

Several fields of support action will be implemented in order to assure transversal lines of work encompassing both hubs and subnets hanging from them. Every field of action will have a coordinator that will be part of the “Scientific and strategic board directors”.

Fields of support action have been defined so far are:

Registry: European epidemiological surveillance and mapping of (clinical and diagnosis)

services: European inventory of experts, centres, facilities available and number of patients

Training: Education and training (Continuous medical education), European training courses,

e-learning, European passport for hematologist, etc

Telemedicine: Tele expertise for complex cases

Guidelines: guidelines development and implementation assessment OF European (clinical

care and diagnosis) best practices

Prevention: Screening and prevention programs, implementation assessment, etc

Clinical trials: New therapies

Research: drug-able targets identification, gene therapy, pathophysiological mechanism, etc

Patient’s right and cross-border health: Cross-border health care, mobility of patients, reimbursement of services, assessment and harmonization of focus points etc


According to EC requirements for the recognition of the networks, ERNs have to fulfill at least 3 of the 8 objectives detailed in the Directive 2011/24/EU - Commission delegated decision 2014/286/EU.

Based on more than 10 years of experience in networking through ENERCA, EuroBloodNet background includes previous experience on some of the objectives required, with the need to amplify the scope from rare anaemias to every RHD, or to approach them through a list of expansion after the first 5 years of networking.

In this context, the network aims to achieve as higher number of objectives as possible and several transversal lines of action have been designed for their approach.

EC objectives: 1) Exploiting innovations in medical science and health technologies 2) Pooling of knowledge regarding sickness prevention 3) Facilitating improvements in diagnosis and delivery of high-quality, accessible and cost-

effective healthcare 4) Maximising the cost-effectiveness of resources 5) Reinforcing research, epidemiological surveillance and training 6) Facilitating mobility of expertise 7) Development of quality and safety benchmarks and spread of best practices 8) Helping Member States with an insufficient number of patients with a particular medical

condition EuroBloodNet approach for their achievement:


1) Enhance the equality in the care delivery for RHD across Europe by the establishment of

European inventory of experts, centres, facilities available and distribution of patients:

o Mapping of European centers and services - recommendations for Centres of

Expertise (CoE)

o Registry of patients – e-Registry platform

o Cross border patients referral system –legal team

o Shape of policies addressing specific needs that allow concentrate resources where

needed

Obj 3, 4, 5, 8

2) To facilitate the harmonization of the haematology (adults and paediatric) specialties

curricula throughout the EU

o Improve continuing medical education on RHD – Training courses

o Promote blended learning – On site & On line learning - eLearning platform

o Promote the diffusion and implementation of existing guidelines

Obj 2, 5, 7

3) Provide inter professional consultation and sharing of knowledge through the exchange of

clinical information for the improvement of patient care

o Decrease in the number of undiagnosed/misdiagnosed patients by remote diagnosis

of complex cases - Telemedicine platform

o Improve patient care by building a bridge among health professionals in distant

locations and experts

Obj 3, 6, 8

4) Promote the best practices in prevention, diagnosis and clinical care across Europe

o Gathering of existing protocols, national programs, recommendations and guidelines

for identification of inequalities

o Promote harmonization of procedures for diagnosis and the development of

external quality assessment schemes

o Assessment of existing guidelines implementation

o Development of guidelines and their implementation - Recommendations

Obj 2, 7, 8

5) Foster European cooperation in highly specialized diagnosis, health care and research

o Promote clinical trials

o Facilitate the provision of –omics platforms and new technologies

o Support research in drug-able targets identification, gene therapy,

pathophysiological mechanism

Obj 1, 3, 4, 5, 8





The network will cover all the Rare Haematological Diseases (ORPHA 97992) under two main sub-domains:

Non-malignant diseases hub: main groups including o Rare anaemias (ORPHA 108997) o Rare bleeding-coagulation disorders (ORPHA 98429) o Polyglobulia or erythrocytosis (ORPHA 98427) (non-oncological) o Rare hemochromatosis (ORPHA 79230, 225123, 139491)

Malignant diseases hub: including o tumour of hematopoietic and lymphoid tissues (ORPHA 68347) o Polycythaemia (ORPHA 98427) (oncological)

Each hub will include several sub networks (6 in total) to assure the coverage of every RHD under the umbrella of the network. Sub networks are still under discussion.

5. COVERAGE


Austria YES 3

Belgium YES 4

Bulgaria YES 1

Croatia YES 1

Cyprus YES 2

Czech Republic YES 1

Denmark NO …

Estonia NO …

Finland NO …

France YES 11

Germany YES 6

Greece YES 1

Hungary YES 1

Ireland YES 2

Italy YES 20

Latvia NO …

Lithuania YES 1

Luxembourg NO …

Malta YES 1

Netherlands YES 8

Poland NO …

Portugal YES 3

Romania NO …

Slovakia NO …

Slovenia NO …

Spain YES 7

Sweden YES 1





























United Kingdom YES 9

TOTAL 19 83

NOTE:

HCP listed in the table above, have shown interest in the ERN-RHD proposal. Final centres to be

presented as nodes of the network will be agreed in the upcoming weeks.

6. IT NEEDS



become operational.

IT tools will have an essential transversal role within the network supporting key fields of action. In this context, the three e-health platforms developed in the fourth phase of ENERCA project in the field of rare anaemias will undoubtedly serve as first stones for their expansion and coverage to all RHD.

e-Registry: A tool for epidemiological surveillance of rare hematological diseases at

European level.

e-Learning platform is a useful tool for initial and continuing medical education in the field of

rare hematological diseases, offering a complete panel of training tools to the registered

participants and contributing to lowering inequalities in knowledge accessibility throughout

Europe.

Telemedicine platform facilitates remote diagnosis/clinical orientation of complex cases by

building a bridge among health professionals in distant locations and experts in rare

hematological diseases.


Since the two hubs: non-malignant and malignant diseases have merged recently, important

advances are expected to be achieved in the coming weeks, therefore this document should be

considered as a first version.



12. RARE HEPTIC DISEASES (ERN-LIVER)

NETWORK APPLICATION COORDINATE PROFESSOR DAVID JONES, NEWCASTLE

UNIVERSITY, UK

1. THEMATIC AREA

The network thematic area will be RARE HEPATIC DISEASES


The proposed ERN consists of three disease theme areas which represent organic clusters of liver disease where there is existing synergy around expertise/clinical skill set, diagnositc challenge, clinical referral patterns or shared requirement for diagnostic technology.

1) AUTOIMMUNE LIVER DISEASE: There has been, historically, significant integration of clinical practice in autoimmune liver disease. This reflects common pathogenetic processes in the form of immune liver injury (and thus expertise in immunology as a route into the speciality area) and over-lapping need for immuno-therapeutic approaches and immuno-diagnostic technologies. Importantly, there is also clinical overlap between the conditions with higher risk patients frequently expressing features of more than one of the conditions (overlap between autoimmune hepatitis and PBC and PSC, and between IgG4 disease and PSC being particularly important clinical scenarios). The advent of biological therapies in AILD over the next few years will increase the value of synergy in the management of the different diseases through a single ERN disease theme

2) METABOLIC, BILIARY ATRESIA & RELATED LIVER DISEASE: This theme area covers a number of conditions linked through a frequently genetic aetiology (most metabolic conditions are proven or are likely to be gene disorders). There is, therefore clustering through shared diagnostic technology (genomic methodologies) and requirements (genetic counselling). Many of the conditions also share clinical presentations leading to diagnostic complexity (for example the biliary transporter diseases). Finally, and importantly, there are shared demographic challenges with many of the conditions presenting in childhood and thus needing specialist paediatric hepatology expertise, but needing long-term management including high quality transitional care

3) STRUCTURAL LIVER DISEASE: This is the most heterogenous of the disease theme areas and relates to anatomically definable liver abnormality. The cluster of diseases, around cystic, neoplastic and vascular structures are, despite their heterogeneity, synergistic because of their route of clinical presentation (through clinically silent imaging findings or through mass lesions effects including abdominal pain), the importance of radiological expertise in their diagnosis and the important role played by both surgical and interventional radiological approaches in their management.

RARE-LIVER has a well-developed governance structure . It will be co-ordinated by Professor David Jones, Newcastle University, UK who, as the chief investigator for UK-PBC and the lead for the National Institute for Health Research Rare Diseases Translational Research Collaboration (RD-TRC) liver and GI theme has extensive experience of programme and network development and management in rare liver disease.

The BOARD for RARE-LIVER will set the strategy for the network and will be chaired by the network co-ordinator. The membership of the board will include the individual HCP leads (or their nominated deputies), the disease theme leads, the cross-cutting theme leads, representatives of the European


specialist societies for adult and paediatric hepatology (EASL & ESPGHAN respectively, both of which actively support RARE-LIVER), the lead patient representative (from ELPA, the European Liver Patients Association which will co-ordinate a RARE-LIVER patient forum which will have representatives from relevant national and disease-specific patient groups and a lead industry representative). The board will also have 2 additional invited members who will be international experts in the areas of adult and paediatric rare liver liver disease. The board will meet twice a year in the context of the European (EASL) liver meeting in the spring and with a stand-alone meeting in the autumn. The autumn meeting will combine the network annual business meeting with a rare-liver disease clinical symposium and education programme. This event will bring together the network centres, patient groups and trainees, and will play a key role in increasing the profile of rare liver disease clinical practice in Europe. The spring, EASL-linked meeting will include a RARE-LIVER Board business meeting and we will explore with EASL the possibility of a rare liver disease research symposium.

Network operations will be over-seen on a day to day basis by a MANAGEMENT group which will consist of the network co-ordinator, the disease and cross-cutting theme leads and adult and paediatric rare liver disease clinical community leads drawn from the HCP leads on a rotating basis. This group will meet monthly by teleconference. Issues affecting the HCP centres can be raised through the clinical leads. The management group will report to the board and the minutes of its meetings will be circulated to the board members.


Hepatology is a relatively young and small clinical speciality. Advance in clinical knowledge in recent years has been very rapid, and has been facilitated by the emergence of genetic and other diagnostic technologies which have helped us to develop a deeper understanding of disease and its causes. Hepatology is also a rapidly expanding speciality with the impact of liver disease growing in most countries. The combination of growing need in hepatology, and a small and only recently developed clinical and research base, represents a “perfect storm” in which available expertise is insufficient to meet clinical need. Clinical practice (and research) in hepatology have also, in recent years been dominated by viral hepatitis (and are currently being dominated by obesity-related liver disease). The combined impact of all these factors has been to restrict capacity in particularly in the area of rare liver disease. This has occurred, ironically, at a time when research activity, knowledge and industry interest are all at record levels. The limited clinical workforce base at a time of rapid clinical innovation means that there is a very real possibility that patients with rare liver disease across Europe will miss out on rapidly developing new treatment opportunities. We believe that the ERN model, in which knowledge transfer and expertise sharing is at the core, represents a unique opportunity to improve clinical care for rare liver disease patients across Europe, and that hepatology in turn represents a uniquely powerful setting in which to apply the model. The RARE-LIVER network will provide added value, and improve the care for rare liver disease patients both directly and indirectly

DIRECT patient benefit will come from the clinical knowledge transfer which is at the heart of the network model. We will have extensive coverage across Europe, with existing centres of excellence linking with developing centres to systematise and improve care delivery. Liver disease lends itself well to devolved care delivery given that most management decisions are made on the basis of laboratory-based clinical data which can be shared effectively through a network. Our systematic approach to development and implementation of care guidelines (as outlined below), which will be undertaken in collaboration with our Europe-wide learned society sponsors the European Association for the Study of the Liver (EASL) and the European Society for Paediatric Hepatology and Nutrition (ESPGHAN)) will provide the core of a direct care improvement approach, providing a robust framework for clinical care delivery. This will be backed up by our support activity for the standardisation of key diagnostic and prognostic tests, ensuring that diagnostic activity is


harmonised across Europe. Our programme of virtual MDTs in areas of specific clinic challenge, and our desire to collaborate with other ERNs in areas of clinical overlap, will provide a novel resource for higher level management which is simply not currently available

INDIRECT or deferred patient benefit will come from our training and research activity. As a small and rapidly developing speciality it is vital that we increase the expertise base both through training the clinical academic leaders of tomorrow and increasing knowledge amongst the broader clinical workforce. Patient and carer education is also critical for informed decision making. Our research activity will include a major component of therapeutics development working with industrial partners (an area where we already have a strong track record) to improve treatment options for patients and improve outcomes, and through research into optimal care delivery developing the treatment models to be implemented in future iterations of the RARE-LIVER ERN




Autoimmune Liver Disease (AILD) Primary Biliary Cholangitis (PBC) Primary Sclerosing Cholangitis (PSC) Autoimmune Hepatitis (AIH) IgG4 Disease Metabolic, Biliary Atresia and Related Disease Genetic Cholestatic Disease Biliary Atresia Choledochal Cyst Disease Alpha-1 Anti-Trypsin Disease Wilsons Disease Structural Cystic Liver Disease Vascular Liver Disease Intrahepatic Cholangiocarcinoma

5. COVERAGE


Austria Yes 3

Belgium Yes 3

Bulgaria No …

Croatia No …

Cyprus No …


Denmark Yes 2

Estonia No …

Finland Yes 1

France Yes 2

Germany Yes 8

Greece Yes 1

Hungary No …















Ireland Yes 1

Italy Yes 6

Latvia No …

Lithuania No …

Luxembourg No …

Malta No …

Netherlands Yes 4

Poland Yes 1

Portugal Yes 2

Romania No …

Slovakia No …

Slovenia No …

Spain Yes 2

Sweden Yes 2


6. IT NEEDS



become operational.

We have a cross-cutting informatics theme that are currently working on our IT needs. This area is therefore currently under development. We have identified 2 areas of IT need. The first is a common database which can be used for centre level collection of critical outcomes data which will form an essential part of our quality improvement programme. In developing an IT solution is this area we must be mindful of the absence of resource at the HCP level to undertake complex databasing, and data governance issues. The second area is in IT support for our virtual MDT programme which will be a critical element of quality improvement, particularly when we are reaching out to areas with limited current expertise. We have identified a potential platform that would support the appropriate sharing of diagnostic data.


RARE-LIVER has been developed with the support of the relevant European specialist societies (European Association for the Study of the Liver (EASL) and the European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN)

















13. RARE HEREDITARY METABOLIC DISORDERS (METABERN)

NETWORK APPLICATION COORDINATE (PROF. MAURIZIO SCARPA CENTER FOR RARE

DISEASES HELIOS DR. HORST SCHMIDT KLINIKEN, WIESBADEN, GERMANY

([email protected])

Please give a brief overview of the network proposal below The European Reference Network for Inherited Metabolic Diseases (MetabERN) will develop collaborative programs among Pediatric and Adult metabolic HCPs at EU level to create services aimed to improve and harmonize the prevention, diagnosis, management and access to therapy to patient affected by inherited metabolic diseases (IMD). The IMDs are a group of about 800 genetic and lethal disorders affecting children and adults, their diagnosis is very often late or wrong, causing from wrong therapies up to death of the patients. The MetabERN will interact with existing expert Networks, Patients Associations and other stakeholders to harmonize the clinical management in EU, to draft EU guidelines and Standard Operating Procedures, to ensure prompt diagnosis, to create database collection and sharing to allow highly expert patients´ counselling and to promote new clinical trials settings aimed at the development of innovative therapies.

1. THEMATIC AREA

The network thematic area will be “RARE HEREDITARY METABOLIC DISORDERS”


The MetabERN governance structure is still under discussion.

Considering the complexity of the IMDs field as a whole, 7 group-specific subnetworks have been established. Each Subnetwork will be under the responsibility of a subnetwork-coordinator and will be structured in disease specific working groups. Each subnetwork is ruled by an advisory board formed by all the responsibles of the disease specific working groups, by family associations, and stakeholders such as policy makers, expert in ethics, law etc. The subnetwork-coordinators will form the Medical Advisory Board which will rule the activities and the strategies of the MetabERN together with the MetabERN Coordinator. The Medical Advisory Board will refer to the Advisory Board, formed by one representative per MS participating to the MetabERN, representatives of family associations, 2 representatives of the Medical Executive Board and one representative of the Affiliated Networks (i.e. E-HOD, E-IMD, B4B, etc.), policy makers and stakeholders and 1 representative of the European Reference Network for Neurological Diseases (ERN-RND) with which the MetabERN will strongly interact. The activities and programs of the MetaERN will be reviewed by the External Experts Board, an independent review controlling Committee from expert elected by the Society for the Study of Inherited Metabolic Diseases (SSIEM) who are not actively involved in the ERN. (Fig.1)


Fig.1 Draft of the MetabERn structure


Rare Hereditary Metabolic Disorders (IMDs) encompasses a diverse and heterogeneous collection of more than 800 genetic diseases categorised in different subgroups according to the specific disrupted biochemical pathway. The following groups of diseases will be the initially followed

1) Aminoacid and organic acids related disorders 2) Disorders of pyruvate metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders, disorders of thiamine transport and metabolism 3) Carbohydrate, fatty acid oxidation and ketone bodies disorders 4) Lysosomal disorders 5) Peroxisomal and lipid related disorders 6) Congenital disorders of glycosylation and disorders of intracellular trafficking, 7) Other Metabolic Diseases: neurotransmitter, GABA, pyridoxine, molybdenum, copper, zinc, manganes, purine, pyrimidine, nucleotide, porphyrin and haem, iron, xenobiotics


4. COVERAGE:

IN PROGRESS


Austria Yes 2

Belgium Yes 1

Bulgaria No

Croatia Yes 1

Cyprus No


Denmark Yes 1

Estonia No

Finland No

France Yes 6

Germany Yes 9

Greece No

Hungary Yes 1

Ireland Yes 1

Italy Yes 10

Latvia No

Lithuania Yes 2

Luxembourg No

Malta No

Netherlands Yes 6

Poland No

Portugal Yes 4

Romania No

Slovakia No

Slovenia No

Spain Yes 6

Sweden Yes 1


6. IT NEEDS



become operational.

Services

• Development of clinical pathways and therapeutic policies, • Best practice guidelines and SOPs, • Registries & data collection, • Review of clinical outcomes, • Discussion of difficult cases, second opinion for diagnosis and treatment and management • Training and education programmes • Virtual multidisciplinary review • Virtual consultation system






























• Telemedicine.

Minimum requirements for networks to become operational • Public and private websites supporting the network • Virtual Consultation System • E-learning platform • Patients Registry • Patient Passport


None.


14. RARE IMMUNOLOGICAL & AUTO INFLAMMATORY DISEASES (RITA)


15. RARE MALFORMATIONS & DEVELOPMENTAL ANOMALIES & RARE INTELLECTUAL

DISEASES - ITHACA

NETWORK APPLICATION COORDINATE JILL CLAYTON-SMITH

1. THEMATIC AREA: RARE CONGENITAL MALFORMATIONS AND RARE INTELLECTUAL

DISABILITY

The network thematic area will be “THEMATIC GROUPING HEADING”


Led by Manchester as the network lead with approximately 30 centres as members. Al of these are expected to have gained national endorsement by June 21st, all fulfil our self-designated network criteria and all are confident they fulfil the self-assessment criteria. The activities of the network have been organised into a number of different workstreams. Patient involvement has been sought up front and patients/lay memebers will be involved in each workstream.


The coordinator will be Prof Jill Clayton-Smith from Manchester supported by Dr Sofia Douzgou.

The Network Board, chaired by the network coordinator, will be comprised of a member from each centre ( though where a country has many centres we would like to seek a different arrangement with rotating board members from 2 centres at a time), together with two lay members, a representative of Central Manchester NHS Foundation Trust as the HCP and the project manager. Others may be coopted to the board for short periods if needed.

The board will be supported by a steering committee

The network will be supported by a secretariat which will include the project manager, guideline developer and other administrative help depending on external funding opportunities.


• To improve access to high specialty healthcare for rare malformation and intellectual

disability syndromes throughout the EU by sharing best practice and evaluation and

development of consensus and evidence-based guidelines

• To facilitate access to diagnostic expertise for rare multiple malformation syndromes and ID by utilising innovative TeleHealth approaches

• To provide access to high quality information and advice regarding testing, support, education and management for professionals and families

• To establish patient registries to document natural history and patient outcomes, to act as a source of data for research and to facilitate clinical trials

• To promote collaborations between researchers , associated networks , lay groups and other relevant bodies


• To define outcome measures, including patient outcome measures, and key performance indicators and use these to define, and monitor best practice across the network centres through audit and benchmarking activities.

• To facilitate training and education through courses, e-learning approaches and staff exchange programmes

To empower patients with rare diseases and their families/carers to play an active part in all of the above activities.




1. Rare congenital malformations not covered in other specific networks e.g. in the rare urogenital

malformations network

2. Rare, diagnosed, congenital malformation syndromes

3. Rare Undiagnosed congenital malformation syndromes

4. Rare intellectual disability syndromes

5. Rare chromosome disorders

5. COVERAGE


Austria 0 (ADD NUMBER OF HCP IN APPLICATION)

Belgium 2 …

Bulgaria 0 …

Croatia 0 …

Cyprus 0 …

Czech Republic 0 …

Denmark 0 …

Estonia 0 …

Finland 1 …

France 3 but 8 keen to be included …

Germany 3 …

Greece 0 …

Hungary 1 …

Ireland 0 …

Italy 5 currently …

Latvia 0 …

Lithuania 1 …

Luxembourg 0 …

Malta 0 …

Netherlands 5 …

Poland 0 …

Portugal 1 …

Romania 1 …

Slovakia 0 …

Slovenia 0 …



























Spain 2 …

Sweden 1 …

United Kingdom 2 …

6. IT NEEDS



become operational.

1. Specific website Essential to become operational. We need this in place as soon as possible

and are going to pay initial costs to set this up ourselves now

2. Facility for teleconferencing. Currently we have paid ourselves to use GoToMeeting as we

are needing to network now prior to the application. Hopefully this can be provided for by

EU resources in the future.

3. Secure case-sharing system. Similar to the one demonstratd by CINECA at the Lisbon

meeting. This is ESSENTIAL for us to have early on as we have a major focus on undiagnosed

patients

4. Patient Registry System. We have initiated discussions, also with the UK congenital

malformations register so that we can fit in with them on this. Will need this to be working

by Year 2 .

5. Network administrative system. We believe after the April 7th meeting that one will be made

available through the EU. Until then we will continue our current ad hoc arrangements


We do not want to duplicate efforts in other ERNS and will seek, wherever we can to assign

particular patient groups to the most appropriate ERN ( with parents/families mainly taking this

decision )

I think there were some mixed messages regarding the size of the network. It seemed to be stressed

that not every centre delivering relative services could/should be included but this was gone back on

somewhat at the April 7th meeting and has caused many more centres to contact us again for

inclusion after we had done some initial rationalisation. The key thing here is how manageable the

board is. If we could seek to have countries with large numbers of members represented on the

board by e.g. 2 rotating members instead of a member each then we could perhaps cope with this.

Some centres have stated, rightly I think, that otherwise we risk creating hierarchies among centres

that have hitherto worked well together.





16. RARE MULTISYSTEM VASCULAR DISEASES

NETWORK APPLICATION COORDINATE (PR. GUILLAUME JONDEAU)

The European Reference Network on Rare Multisystemic Vascular Diseases gathers about 40 multidisciplinary European highly specialized healthcare providers (HCPs) in this thematic field, represented by clinicians, biologists, researchers, surgeons. It includes (as of today) specific Diseases Working Groups: Aorta, Medium Size Arteries, HHT, Vascular Anomalies (VASCA) and Primary Lymphedemas, as well as several Thematic Working Groups including for Patients, eHealth, Training & Education, Registry & Ethics and Communication.

All our Members are Centers of Reference/Excellence recognized in their countries. These Healthcare Providers have developed extensive European collaborations through their specific Rare Diseases’ networks. They join this ERN project proposal to foster European cooperation in Rare Multisystemic Vascular Diseases, following a common and multidisciplinary approach to patient care, in order to overcome the challenges of rarity. They are committed to improve diagnosis, treatment, and care for patients by using all opportunities and activities offered by the ERN Project.

Our ERN project proposal aims to facilitate and improve diagnosis, treatment and care for patients suffering from Rare Multisystemic Vascular Diseases or low prevalence conditions, thus enhancing quality of life of these patients.

Networking, sharing and spreading our expertise, promoting best practices, developing a common action plan, guidelines and clinical outcomes and patient-empowerment are among our missions.

You may find more information in our website here: www.ERNvascular.eu (please note that it is under construction)

1. THEMATIC AREA

The network thematic area will be “RARE MULTISYSTEMIC VASCULAR DISEASES”



The ERN Bodies:

- ERN General Assembly - ERN Network Coordinator (rotative coordination, with election among members every 3

years) - ERN Board = including ERN HCP Member representatives, Patient representatives. Strategic

decision-making body, meeting every 3 months. - ERN Council (consists of ERN WG Chairs, and co-chairs as suppleants) = operational decision-

making body, following-up closely the implementation of the ERN action plan, meeting once a month.

- Diseases Working Groups, chaired by a chair and a co-chair. Specific projects can be lead by a member when necessary. Both dimensions: research and clinic / patient care will be tackled by each WGs.

- Transversal Thematic Working Groups

Please see the Governance structure below:

http://www.ernvascular.eu/


In agreement with our members with whom we are organizing regular conference calls, the Network will be structured around: 5 Diseases Working Groups (as of now - or 6, depending on the ongoing discussions with the Vascular Surgeons / ESVS Network) as well as 5 Transversal Thematic Working Groups. Please see the figure (as of today) below:


In agreement with our Members and in application of the Direction 2011/24/EU on Patient rights in cross-border Healthcare, our ERN will follow the common following main objectives:

1/ Realise the potential of European cooperation regarding highly specialised healthcare for patients and for healthcare systems by exploiting innovations in medical science and health technologies.

5/ Reinforce research, epidemiological surveillance like registries and provide training for healthcare professionals.


7/ Encourage the development of quality and safety benchmarks and help develop and spread best practice within and outside the European Reference Network.

As objective 6 is for us complementary of 7, might be added as complementary sub-objective:

6/ Facilitate mobility of expertise, virtually or physically, and to develop, share and spread information, knowledge and best practice and to foster developments of the diagnosis and treatment of rare diseases, within and outside the European Reference Networks.

To pursue these objectives, our missions will be further developed in our ERN Proposal, Strategic Action Plan & Working Group’s Road Maps. They will include:

Develop clinical guidelines, best practices to approach patient care

Develop collaborative research projects, training and education

Develop eHealth tools to facilitate experts communication and patient care

Sharing, spreading knowledge, expertise through innovative means

Implement actions with a multidisciplinary approach to care and through patient empowerment

Make RD more visible: develop communication, visibility and public relations with other stakeholders to raise awareness about RD, ERNs, and our specific thematic fied, namely Rare multisystemic vascular diseases.




The aim is to have under the umbrella of this ERN all the rare vascular diseases except vasculitis

which is included in RITA.

Genetic Aorta Diseases including aneurysms and dissection (15-20 disorders) : Syndromic (Marfan

Syndrome; Aneurysm Osteoarthritis Syndrome ; Loeys Dietz syndrome) or non syndromic (FTAAD

Familial thoracic aortic aneurysm and aortic dissection related to mutations in FBN1, TGFBR1,

TGFBR2, TGFB2, TGFB3, SMAD3; ACTA2; MYH11, LOX…, familial forms of bicuspid aortic valves)

Medium Size Arteries Diseases (peripheral arteries) : Vascular Ehlers Danlos Syndrome ;

Fibromuscular dysplasia ; Buerger disease ; Takayashu disease

HHT (Rendu-Osler Disease)

Vascular Anomalies : venous malformation, cutaneo-mucosal venous malformation, Blue Rubber

Bleb Nevus syndrome, lymphatic malformation, capillary malformation, arteriovenous malformation,

diffuse capillary malformation with hypertrophy, capillary malformation-arteriovenous malformation

, capillary-venous malformation , Parkes-Weber syndrome , Sturge-Weber syndrome , glomuvenous

malformation, capillaro-lymphatic-venous malformation, Maffucci syndrome , CLOVES syndrome,

Proteus syndrome , Macrocephaly-capillary malformation, Cutis Marmorata Telangiectatica

Congenital, PTEN hamartoma tumor syndrome , cerebral cavernous malformation with or without

hyperkeratotic cutaneous capillary-venous malformations, verrucous venous malformation,

generalized lymphatic anomaly , Gorham-Stout syndrome , infantile hemangioma , rapidly involuting

congenital hemangioma , non-involuting congenital hemangioma, etc.


Primary Lymphedema : lymphatic diseases : 20 genetically defined disorders and subentities, and

increasing:

5. COVERAGE (AS OF TODAY)


Austria NO -

Belgium YES 3

Bulgaria NO -

Croatia NO -

Cyprus NO -

Czech Republic NO -

Denmark YES 1 (or 2)

Estonia NO -

Finland YES 3

France YES 6 to 7

Germany YES… 3

Greece NO -

Hungary YES 1 to 2

Ireland YES 1

Italy YES 9

Latvia NO -

Lithuania NO… -

Luxembourg NO -

Malta NO -

Netherlands YES 6

Poland NO -

Portugal NO -

Romania NO -

Slovakia NO -

Slovenia NO -

Spain YES 2

Sweden YES 3

United Kingdom

YES 4

6. IT NEEDS



become operational.

- Platform to share imaging, diagnostic tools : data protection is the key issue

- Platform for database (patient registry), security is also an issue































- Facilitating Web based tools for web-based methods to capture details from patients: security

- Tools to create a MOOC

- IT services for visio/ teleconference

- e-Health services (Tele-expertise; Telemedicine) and security is also an issue


Discussions are ongoing with the ESVS network (vascular surgeons) on finding a solution to merge

our proposals.


17. RARE NEUROLOGICAL DISEASES

NETWORK APPLICATION COORDINATE (HOLM GRAESSNER, UNIVERSITY HOSPITAL

TUEBINGEN)

1. THEMATIC AREA

The network thematic area will be “Rare Neurological Diseases”



Realise the potential of European cooperation regarding highly specialised healthcare for patients and for healthcare systems by exploiting innovations in medical science and health technologies.

Facilitate improvements in diagnosis and the delivery of high-quality, accessible and cost-effective healthcare for all patients with a medical condition requiring a particular concentration of expertise in medical domains where expertise is rare.

Maximise the cost-effective use of resources by concentrating them where appropriate.

Reinforce research, epidemiological surveillance like registries and provide training for healthcare professionals.

Facilitate mobility of expertise, virtually or physically, and to develop, share and spread information, knowledge and best practice and to foster developments of the diagnosis and treatment of rare diseases, within and outside the European Reference Networks.


Encourage the development of quality and safety benchmarks and help develop and spread best practice within and outside the European Reference Network.

Help Member States with an insufficient number of patients with a particular medical condition or lacking technology or expertise to provide highly specialised services of high quality.


For the establishment of the network:

Rare Neurodegenerative Diseases:

1. Cerebellar Ataxias and Spastic Paraplegias

2. Choreas and Huntington's Disease

3. Dystonias, paroxysmal disorders (non-epileptical ones) and Neurodegeneration with Brain Iron

Accumulation

4. Frontotemporal dementia

5. Leukodystrophies

6. Atypical parkinsonian syndromes: Genetic PD, Multisystem Atrophy, Progressive Supranuclear Palsy,

Corticobasal degeneration

Specialised interventions:

Botulinum toxin treatment

Deep brain stimulation for dystonia

Hematopoietic stem cell transplantation for treatment of Leukodystrophies

Next Generation Genetic testing include the interpretation of results

Neuroimaging of rare neurodegenerative disease patients

For the expansion of the network:

Diseases and specialised interventions regarding:

Rare inflammatory and oncological disorders

Further rare neurological disorders including cerebral palsy, malformations, vascular disorders etc.

5. COVERAGE


Austria

Yes 1

Belgium

Yes 2

Bulgaria

Yes 1

Croatia

No

Cyprus

No

Czech Republic

Yes 2

Denmark

Yes 1

Estonia

No

Finland

No

France

Yes 4

Germany

Yes 4

Greece

No

Hungary

Yes 2















Ireland

No

Italy

Yes 4

Latvia

No

Lithuania

No

Luxembourg

No

Malta

No

Netherlands

Yes 3

Poland

No

Portugal

No

Romania

No

Slovakia

No

Slovenia

No

Spain

Yes 2

Sweden

No

United Kingdom

Yes 1

6. IT NEEDS

For first version of network to become operational:

Prospective care registry for all rare neurological disorders (data structure: minimal phenotype data

set fit for all RND patients, Available biomaterial, Phenotypic and genetic diagnosis, Natural history

scales, Care metrics)

Virtual consultation tool for multidisciplinary advice

Structured information and knowledge platform to provide information on expertise and services of

ERN-RND

Potentially for later:

IT platform for e-learning purposes

Protected IT platform for videoconferences


ERN-RND has chosen a stepwise expansion approach for the expansion of the network. We will be applying for

HCP with an expertise for rare neurodegenerative diseases fist and will after the approval and as soon as the

network is operational (from year 2 on) expand the network in terms of diseases covered and in terms of

additional HCPs. The network will eventually cover all rare neurological diseases apart from neuromuscular

diseases.

















18. RARE NEUROMUSCULAR DISEASES (EURO-NMD)

NETWORK APPLICATION COORDINATE: KATE BUSHBY

1. THEMATIC AREA

The network thematic area will be “Rare Neuromuscular diseases”


The ERN will have a “Multi-Tiered Hub Structure” so that it can accommodate the associated and collaborative members as well as the existing Research Networks and the Learned Societies.

In essence, this means that although a limited number of HCPs will be Members of the network, “non-member centres” will be affiliated to the ERN and will be able to access the expertise of the ERN, submit patients etc. Full Members of the ERN will therefore be expected to disseminate key messages and engage with their national colleagues working in this disease field. This structure will also allow the collaboration with the Learned Societies and research networks avoiding duplication of efforts in areas like education/teaching; registries; bio banking and care guidelines among others.

The ERN is required to have to have a Board of the ERN that should be established in accordance with what is stipulated in the Operational Criteria. It should include 1 representative from each healthcare provider that is a full member of the ERN. There will be a coordinator of the ERN nominated by the Coordinating centre. The Board will also include 2 patient representatives.

The Board of the ERN will be supported by thematic groups, developed around the main groups of diseases: Muscle, NMJ, Nerve, Mitochondrial Neuromuscular diseases and ALS/MND/SMA, each of them with a spokesperson. There will be crosscutting groups, for instance “Diagnostic Tools” (genetics, pathology, imaging, etc.) that will cover common issues of the different diseases. These groups will report to the Board and will help with the governance of the network.

A Secretariat, an Ethics Committee, an Educational Board and a Research Board will support the overall structure. It will be supervised by an external evaluation body and with the input of the Patients Advisory Board (from this Advisory Board would be elected the 2 representatives for the Board of the ERN).


The ERN will have 3 main purposes:

Improve quality and equity of healthcare for patients with rare neuromuscular diseases Allowing equity in diagnosis in all EU countries Applying uniform standards of care in all EU countries

Enable the exchange of knowledge through teaching and training

Engage in and facilitate translational research


The network will cover all rare neuromuscular diseases with the main working groups being:

Rare muscle diseases (genetic, inflammatory, and metabolic);

Mitochondrial neuromuscular diseases;


ALS/MND/SMA;

Neuromuscular junction defects (congenital myasthenic syndromes, autoimmune myasthenia);

Peripheral neuropathies (genetic and inflammatory).

Although the network aims to cover all rare NMD, it will have a stepwise approach.

5. COVERAGE


Austria No (ADD NUMBER OF HCP IN APPLICATION)

Belgium Yes 3

Bulgaria Yes 1

Croatia No …

Cyprus Yes 1


Denmark Yes 1

Estonia No …

Finland Yes 1

France Yes ?

Germany Yes ? (7)

Greece No …

Hungary Yes 1

Ireland No …

Italy Yes ?

Latvia No …

Lithuania No …

Luxembourg No …

Malta No …

Netherlands Yes ? (6)

Poland Yes 1

Portugal No …

Romania No …

Slovakia Yes 1

Slovenia Yes 1

Spain Yes ? (5)

Sweden Yes 1


6. IT NEEDS



become operational.

Web conference system

System for Tele-consultation, and electronic records

System that allows sharing of images,






























Web site with dedicated secure intranet,

Registration system for patients that will be able to communicate with existing registries

We will use existing research platform for OMICS data (RD-CONNECT)


The demographic data to be collected should be agreed amongst all networks, so that a common

identifier can be generated for each patient.

MAIN FUNCTIONS OF THE RARE NMD-ERN

• Clinical care through tele-consultation and other e-Health tools avoiding on site appointments. These will be done if needed when e-Health tools aren’t enough to appropriately manage the patient (s).

• Promote and sustain good traditional on site practice through the establishment/endorsement of care guidelines and standards of care

• Organise and manage relevant information/data (related with the patient, disease epidemiology and with new scientific or clinical progresses)

• Help to diffuse valid information to patients, other healthcare providers and the public in general

• Training and teaching

SERVICES

The broad groups of services that will be offered by EURO-NMD were agreed as follows:

Clinical

Direct to the patients: traditional clinical appointment and tele-consultation; with a strong

emphasis on tele-consultation and other e-Health tools

Support of healthcare providers either in the network or outside it. This will be done with

the use of e-Health tools.

Diagnostic tests: genetic testing, muscle MRI, neurophysiology and neuropathology,

serological tests either as a service or through the analysis and second opinion on results

previously obtained

Repository of mutations/variants to support the whole field in assessing genetic results

Non-clinical

Adoption of production of clinical guidelines and patient pathways

Epidemiological surveillance and registries

Training and education programmes

Dissemination of information

Clinical Trials

Translational research


Identification and access to registries

Identification and access to bio banks

Access to infrastructures that allow the sharing of data such as next generation sequencing

data


19. RARE PULMONARY DISEASES (LUNG ERN)

NETWORK APPLICATION COORDINATE: THOMAS WAGNER, FRANKFURT UNIVERSITY

1. THEMATIC AREA

The network thematic area will be “rare respiratory diseases”


The mission of the European Reference Network for Rare Respiratory Diseases (ERN-LUNG) is to alleviate suffering from rare respiratory disease and promote health through research, sharing of knowledge, through support of patients and patient organizations, and through medical and public education.


Objectives of the network are being identified through a participatory survey including potential members of the ERN-LUNG as well as relevant patients organisations. The preliminary objectives identified through this process so far are the following:

Exploiting innovations in medical science and health technologies (for example through

Pooling of knowledge

Facilitating improvements in diagnosis and delivery of healthcare

Reinforcing research and epidemiological surveillance





Interstitial lung diseases (including IPF, sarcoidosis, LAM, connective tissue diseases,

pulmonary alveolar proteinosis)

Cystic fibrosis (CF)

Pulmonary hypertension (PH)

Non-CF bronchiectasis (non-CF BE)

Alpha-1 antitrypsin deficiency

Primary ciliary dyskinesia (PCD, including reduced generation of multiple motile cilia)

Chronic lung allograft dysfunction (CLAD)

Mesothelioma

5. COVERAGE


Austria Yes 2

Belgium Yes 3

Bulgaria

Croatia

Cyprus Yes 1


Denmark Yes 2

Estonia 1

Finland 1

France Yes 6

Germany Yes 9

Greece

Hungary

Ireland Yes 2

Italy Yes 14

Latvia

Lithuania

Luxembourg

Malta

Netherlands Yes 4

Poland Yes 3

Portugal Yes 1

Romania

Slovakia

Slovenia

Spain Yes 6

Sweden Yes 1






























6. IT NEEDS

It will be essential that all IT support will reconcile existing and newly developed IT elements to

ensure we can continue to use what has already been established and only replace this with tool

which are better than what we have. At the same time, we need supporting toolboxes to enable

smaller groups to develop the needed IT elements (e.g. registries) at minimal resource consumption

and yet guarantee interoperability at highest possible quality and data protection level.

IT tools needed:

eHealth communication platform incl. safe email exchange, telephone, video, and web

conferences compatible with national regulations to allow participation for all Members of

ERN-LUNG

Tools for clinical data exchange incl. medical imaging and genetic testing results and support

with data security issues (European and national permits of cross border data exchange).

Registry toolbox including software for setting up new registries at minimal expenses (open

source software) and supporting material for data protection issues, patient informed

consent, ethics approval, etc.

Interoperability software tool to allow common data analysis for new and existing registries

and interoperability at European level (European Platform for Rare Disease patient

registration, JRC, Ispra, Italy)

Tools for biological sample exchange and support with legal issues (European and national

permits of cross border biological sample exchange).

All of these are crucial to develop a system of regulated but possible communication and data

and/or sample exchange cross border Member states. Some of these elements are available in some

core networks of ERN-LUNG, but it will be necessary to develop a IT tool box for all, easy to

implement use cases and easy to use in the clinical setting of all Member States.


In some Member States the endorsement process remains unclear, for example

For HCPs applying in France, there is no clarity as to who can apply for endorsement

(individual hospitals or only the filière). It is also not clear how centres that work together

under the APHP umbrella should handle their application.

In Austria, a small selection of centres in a limited number of disease areas has been

approved while it remains unclear for others if they will be able to receive endorsement.



20. RARE RENAL DISEASES (ERKNET) - EUROPEAN REFERENCE NETWORK FOR RARE

KIDNEY DISEASES

NETWORK APPLICATION COORDINATOR: FRANZ SCHAEFER

1. THEMATIC AREA

Rare kidney diseases.


The supreme governing body of the ERN will be the Network Board, comprising one representative per member. The Network will be substructured into 9 disease-group specific workgroups, each of which will be populated by those members who have documented special expertise in the particular disease group. The workgroups will define and prioritize disease group-specific objectives and tasks, will set up action plans and report to the Executive and Network Boards about their progress. Each workgroup will elect a chair, who will represent the workgroup in the Executive Committee of the Network. Each workgroup is also aimed to include a member of a disease group-specific patient advocacy group. The disease specific workgroups will be complemented by transversal, topic-specific Task Forces subserving the key objectives of the Network, such as standardized diagnostics, guideline and pathway development, education and training, assessment of patient satisfaction, transitioning from pediatric to adult care, patient registries and clinical research, and monitoring of performance and outcome measures. The Task Force experts, which may include specialists from external institutions, will support the work groups in achieving their objectives and work on the implementation of standardized infrastructures and procedures across the Network. The Workgroups and Tast Forces will work closely with the corresponding expert work groups of the European adult and pediatric nephrological societies (ERA-EDTA and ESPN), including the ERA-EDTA Workgroup for Inherited Kidney Diseases and the European Best Renal Practice Guideline Group. The Executive Committee will be chaired by the Network Coordinator and comprise the workgroup chairs and a representative of the patient advocacy groups. It will coordinate the activities of the workgroups and task forces and monitor the progress of the Network’s activities with respect to the prioritized actions. The Network Coordinator will supervise the Central Office, chair the Executive Committee and serve as the primary contact with the EU Commission, the Advisory Board and the various stakeholders. The Central Office will be in charge of implementing all centralized functions of the network including e-Consulting services, IT infrastructures, meetings and teleconferences of the workgroups and task forces, and regular compilation of progress reports, as well as the Network’s dissemination activities. The Advisory Board will be comprised of experts in renal medicine, rare disease research, evidence based medicine, medical ethics, psychosocial care, European healthcare systems, health economics.



• We envision molecular diagnoses to be established in all patients early in the course of disease, allowing rational and cost-effective therapy with minimized adverse effects and optimized quality of life.

• We strive for uniform top quality healthcare according to current international standards and guidelines, using evidence based approaches whenever available.

We aim to monitor relevant patient outcomes throughout the network.

• Our multidisciplinary teams will partner with the patients and their families to provide comprehensive care and support in all aspects of life with chronic kidney disease.

• We will provide expertise and support to clinicians throughout Europe who need help with challenging patients with a rare kidney disease.

• We will collaborate with our professional societies to foster specialist education and training covering the full spectrum of rare renal diseases.

• We aim to partner with our patients and industry in clinical research to find new therapies for rare kidney disorders.


• Hereditary glomerulopathies

• Immune-mediated glomerulopathies

• Hereditary tubulopathies and autosomal dominant tubulointerstitial diseases

• Metabolic nephropathies and stone forming disorders

• Thrombotic microangiopathies affecting the kidneys

• Ciliopathies including autosomal dominant and recessive polycystic kidney disease

• Congenital anomalies of the kidneys and urinary tract,

including congenital obstructive uropathies

• Paediatric chronic kidney disease


• Paediatric dialysis and other blood purification techniques

• Paediatric kidney transplantation

5. COVERAGE


Austria No …

Belgium Yes 2

Bulgaria No …

Croatia No …

Cyprus No …


Denmark No …

Estonia No …

Finland Yes 1

France Yes 5

Germany Yes 5

Greece No …

Hungary Yes 1

Ireland No …

Italy Yes 7

Latvia No …

Lithuania Yes 1

Luxembourg No …

Malta No …

Netherlands Yes 3

Poland Yes 2

Portugal Yes 1

Romania No …

Slovakia No …

Slovenia No …

Spain Yes 3

Sweden Yes 1


6. IT NEEDS



become operational.

ERN-specific website building system

Online case management platforn with case-expert matching system, virtual chatroom and

videoconferencing facility and file uploading capacities.


None.






























21. RARE SKIN DISEASES (ERN ON RARE & UNDIAGNOSED SKIN DISORDERS)

NETWORK APPLICATION COORDINATE:

Prof. Christine BODEMER, Head of the Department of Dermatology, Necker

Enfants Malades Hospital-Institut Imagine, Paris Descartes-Sorbonne Paris Cité

University, France

Contact information: [email protected], [email protected]

1. THEMATIC AREA

The network thematic area will be “Rare Skin”.


The potential ERN on Rare and Undiagnosed Skin Disorders will be organized following a double approach:

a disease approach with disease subgroups

a transversal approach common to every disease subgroup

DISEASE APPROACH

DISEASE

HIGH-LEVEL PATIENT MANAGEMENT including telemedicine

RESEARCH in link with other

EU initiatives

Diagnosis

Treatment

Follow-up

Management

Identification of areas and best practice for multidisciplinary work

Multidisciplinary advice for complex cases

Develop and implement clinical guidelines

Develop and implement cross-border patient pathways

Empower and involve patients in order to improve the safety and good quality of care they receive

Identify and fill research gaps

Promote collaborative research within the network

Reinforce research and epidemiological surveillance through setting up shared registries

Epidermolysis Bullosa with EB-Clinet

Coordinators + 1 Patient Group Representative

Ichthyosis & Palmoplantar Keratoderma



mailto:[email protected]

mailto:[email protected]


The governance structure of the potential ERN on Rare and Undiagnosed Skin Disorders

Ectodermal Dysplasia including Incontinentia Pigmenti & Skin Fragility Disorders

Monogenic Connective Tissue Disorders


Cutaneous Mosaic Disorders - Nevi & Nevoid Skin Disorders


Cutaneous diseases related to DNA Repair Disorders


Autoimmune and toxic bullous diseases


Premature Skin Ageing

if the ERN – Skin is approved, this group should organized at the time the 2nd ERN Call

Under discussion Rare Skin Cancers

Under discussion with the potential ERN on Rare Cancers and Tumours Paediatric and the potential ERN on Rare Cancers and Tumours Adults

Under discussion Hidradenitis suppurativa/acne inversa – Adamantiades -Behcet's disease

Under discussion with the project proposal ALLOCATE Acquired immunoLogical Low prevalence and Complex Adult diseases of ThE skin

Under discussion Skin Masotcytosis

Under discussion with the potential ERN on Rare Haematological Diseases

TRANSVERSAL APPROACH

Teaching and Training including e-training

Identify and fill training gap

Develop of training and continuous education, programmes and tools for healthcare providers involved in the chain of care (within and outside of the network)

Develop training alternatives and models

e-health

Deep phenotyping

Website

Outcome measure




The scope of the network has been largely discussed at the 3 Workshops on the future ERN for Rare


and Undiagnosed Skin Disorders (2013 in Istanbul, 2014 in Amsterdam and 2015 in Copenhagen). As the number of rare skin disorders is huge (more than 600) and upon the recommendation of the European Commission, the ERN Implementation Strategic Paper (January 2016), the RD-Action and Eurordis, we have decided to focus first on a few groups of diseases. Our plan is based on a real life and bottom up approach:

Dynamic approach: identify every team involved in the management of rare and undiagnosed skin disorder and organise several sub networks. We will include in our application a ‘progressive expansion plan’ of disease coverage over multi-year periods.

Inclusive: involve every team taking care of patient with rare skin disorders -as member or affiliate- depending on the level of expertise and on the Member State approval

Stepwise: start our ERN by building on existing or more advanced / mature clinical networks.

According to this dynamic, inclusive and stepwise approach, the following groups of diseases should

be included at the time of the 1st call for ERN:

Epidermolysis Bullosa

Ichthyosis & Palmoplantar Keratoderma

Ectodermal Dysplasia including Incontinentia Pigmenti & Skin Fragility Disorders: ED

Hypohidrotic/anhidrotic form, ED with PPK (Clouston, Papillon-Lefevre, Desmosomal

diseases), ED with extracutaneous anomalies (Clefts and EEC syndromes, Ano-genito-urinary

anomalies)

Monogenic Connective Tissue Disorders including Ehlers-Danlos syndrome (EDS), Cutis laxa

(CL), Pseudoxanthoma elasticum (PXE), Buschke-Ollendorff syndrome, scleroderma-like

syndrome

Cutaneous Mosaic Disorders - Nevi & Nevoid Skin Disorders: Congenital melanocytic naevus

syndrome and other melanocytic naevus syndromes, Schimmelpenning

Syndrome/Phakomatosis Pigmentokeratotica, Hypomelanosis of Ito and other pigmentary

mosaic disorders, Proteus Syndrome, PIK3CA related overgrowth syndromes, Phakomatosis

Pigmentovascularis/Extensive Dermal Melanocytosis/Sturge Weber syndrome, Klippel-

Trenaunay-Weber syndrome, Inflammatory Linear Verrucous Epidermal Naevus and other

keratinocytic epidermal naevi, Undiagnosed mosaic disorders

Cutaneous diseases related to DNA Repair Disorders: xeroderma pigmentosum,

trichothiodystrophy, Cockayne syndrome, Rothman-Thompson syndrome

Autoimmune and toxic bullous diseases: pemphigoid gestationis, Dermatitis herpetiformis,

bullous pemphigoid, toxic bullous diseases

Premature Skin Ageing: if the ERN is approved this group should be included at the time of the

2nd call for ERN

Under discussion

In order to find the best organization so each patient can receive the most appropriate healthcare

and to promote collaborations between networks, the inclusion of the following groups of diseases

are under discussion for the 216 application

Rare Skin Cancers Under discussion with the potential ERN on Rare Cancers and Tumours

Paediatric and the potential ERN on Rare Cancers and Tumours Adults


Hidradenitis suppurativa/acne inversa – Adamantiades -Behcet's disease: Under discussion

with the project proposal ALLOCATE Acquired immunoLogical Low prevalence and Complex

Adult diseases of ThE skin

Skin Masotcytosis: Under discussion with the potential ERN on Rare Haematological Diseases

5. COVERAGE

Please note that this list comprises the health care providers who have expressed their wish

to join the ERN project proposal independently of:

a Member Sate approval

the results of the self-assessment

their capacity to comply with the specific criteria defined by the potential ERN for Rare and

Undiagnosed Skin Disorders.


Austria Yes 4

Belgium Yes 3

Bulgaria Yes 2

Croatia Yes 2

Cyprus Yes 1


Denmark Yes 2

Estonia Yes 1

Finland Yes 1

France Yes 6

Germany Yes 16

Greece Yes 3

Hungary Yes 3

Ireland Yes 1

Italy Yes 13

Latvia Yes 1

Lithuania Yes 1

Luxembourg No 0

Malta Yes 1

Netherlands Yes 3

Poland Yes 2

Portugal No 0

Romania Yes 2

Slovakia Yes 1

Slovenia Yes 3

Spain Yes 6

Sweden Yes 4


6. IT NEEDS.

The IT needs are under discussion within the e-health group of the potential ERN for Rare and Undiagnosed Skin Disorders. This network needs a strong eHealth infrastructure to deliver/develop/organize:






























Multidisciplinary diagnostic pathways

Integrated care pathways

Telemedicine and tele-expertise

Support of disease or condition information networks, shared registries, and databases”

Information easily available and accessible to the public such as, though the use of web-based technology

Regular multidisciplinary of clinical audit meetings through various means, including electronic platforms to provide advice and share best practices

Web/teleconferencing to support dissemination of knowledge, best practice evidence, and clinical expertise

Tele-consultations, e-training, and e-education

Technologies facilitating the use of “cross border pathways”

Common tool for gathering and analysing data across its Members and support benchmarking of patient experience information

Development and monitoring of performance indicators

Use of communication tools to support collaboration with other organisations and network


The 1st Workshops on the future ERN for Rare and Undiagnosed Skin Disorders was held in 2013 and

gathered 27 participants from 13 countries including 2 representatives from European and

international patient networks (Debra International, the European Network for Ichthyosis, Eurordis).

Since then, more than 200 specialists and patient groups from 27 EU Member State countries have

expressed their interest in joining the ERN project proposal.

The 3rd workshop on the future ERN for Rare and Undiagnosed Skin Disorders organized in 2015 in Copenhagen gathered the coordinators of each sub network. Their collective aim is to develop a collaborative way of working and to create synergies.

The development of this network was made possible thanks to patient representatives, scientific

societies, rare skin networks and taskforces involving leading experts and health care providers

dedicated to the improvement of child and adult care:

The European Academy of Dermatology and Venereology - EADV

The Genodermatoses Network, co-funded from 2008-2011 by the EC as a ERN for Rare

Diseases pilot project (TAG-2007-335)

EB-Clinet, the clinical network of Epidermolysis Bullosa centres and experts

Geneskin, the online database dedicated to rare genetic skin diseases

The EADV task force on autoimmune and toxic bullous diseases

European & national patient group representatives: Eurordis, Debra International, European

Network for Ichthyosis, Cutis Laxa International, etc.

All together, they share a dynamic, inclusive and step-wise approach. By building on existing or more

advanced clinical networks, their plan is to include in the near future other groups of cutaneous and

mucous membrane disorders so every patient -including the ones suffering from “undiagnosed skin

disorders”- can benefit from an appropriate diagnosis and management and also break out their

isolation through the development of new patient groups.


22. RARE UROGENTIAL DISEASES

NETWORK APPLICATION COORDINATOR

(PROF CHRISTOPHER CHAPPLE, CONSULTANT UROLOGICAL SURGEON, SHEFFIELD

TEACHING HOSPITALS NHS FOUNDATION TRUST AND SECRETARY GENERAL OF THE

EUROPEAN ASSOCIATION OF UROLOGY

The ERN for rare and complex urogenital diseases and conditions will help to improve diagnosis,

access and high quality treatment and care to patients with rare urogenital diseases and complex

urogenital conditions requiring highly specialised surgery and care in multidisciplinary teams. It will

improve highly specialised patient care, specialised diagnostics, expertise in surgical training, and

follow up care and transition, especially in countries with lower resources. The ERN will collaborate

with patients to produce high quality evidence based guidelines and disseminate them as widely as

possible. Research will be a priority for the ERN to speed up the scale of adoption of new medical

innovations and technologies for patients with rare urogenital diseases or who need a highly

specialised surgical intervention and construction of a dedicated data and biobank for answering

some of the research gaps identified.

1. THEMATIC AREA

The network thematic area will be Rare Urogenital Diseases.


GOVERNANCE STRUCTURE:

ERN Board

Advisory Board and special Patient Organisations Advisory Board

WORKSTREAMS (each with their own Executive Board and Advisory Board):

Workstream 1: Rare congenital uro-recto-genital anomalies

Workstream 2: Functional urogenital conditions requiring highly specialised surgery

Workstream 3: Rare urogenital tumours


The objectives of the ERN will be:

1. to help realise the potential of European cooperation regarding highly specialised healthcare for patients and for healthcare systems by exploiting innovations in medical science and health technologies by sharing knowledge and expertise, innovation of care and if possible cure for our patients;

2. to contribute to the pooling of knowledge regarding sickness prevention;

3.to facilitate improvements in diagnosis and the delivery of high-quality, accessible and cost-effective healthcare for all patients with a rare medical condition requiring a particular concentration of expertise in medical domains where expertise and surgical knowledge is rare;

4. to maximise the cost-effective use of resources by concentrating them where appropriate;


5. to reinforce research, epidemiological surveillance like registries and provide super specialty training for health professionals;

6. to facilitate mobility of expertise, virtually or physically, and to develop, share and spread information, knowledge and best practice, and to foster developments of the diagnosis and treatment of rare urogenital diseases and complex conditions, within and outside the networks;

7. to encourage the development of quality and safety benchmarks and to help develop and spread best practice within and outside the network;

8. to help Member States with an insufficient number of patients with a particular medical condition or lacking technology or expertise to provide highly specialised services of high quality.


Workstream 1: rare congenital uro-recto-genital anomalies

Main grouping Diseases

Disorders/differences in sex development 46 -XX disorder of sex development induced by fetal androgens excess

46 -XY disorder of sex development

Turner syndrome

Urogenital paediatric malformations Bladder exstrophy and epispadias

Agenesis and aplasia of uterine body

Cloacal anomalies and anal atresia in combination with urinary tract anomalies

Posterior urethral valve

Posterior hypospadias

Complex mullerian anomalies including vaginal agenesis and obstructive anomalies such as vaginal septae

Non-syndromic urogenital tract malformation of male and female

Spina bifida

Rare urological stone and kidney disease Cystinuria

Oxaluria

Polycystic disease

Syndromic anorectal malformations (ARM) VACTERL (Vertebral anomalies, anal atresia, cardiac malformations, tracheoesophageal fistula, renal anomalies, and limb anomalies)

MURCS (Mullerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia)

OEIS (Omphalocele, exstrophy, imperforate anus, and spinal defects)

Axial mesodermal dysplasia

Klippel-Feil syndrome


Caudal regression sequence - Sirenomelia

Trisomy 21

Trisomy 13

Trisomy 18

Pallister-Killian syndrome

Cat-eye syndrome

Parental unidisomy 16

Deletion 22q11 syndrome (del22q11.2)

Currarino syndrome

Pallister-Hall syndrome

Townes-Brocks syndrome

Ulnar-mammary syndrome

Okihiro syndrome

Rieger syndrome

Feingold syndrome

Kabuki syndrome

Opitz BBB/G syndrome

Johanson-Blizzard syndrome

Spondylocostal dysostosis

Short rib – polydactyly syndrome

Baller-Gerold syndrome

Ciliopathies

Fraser syndrome

Lowe syndrome

Heterotaxia

FG syndrome

X-linked mental retardation

MIDAS syndrome

Christian syndrome

Urorectal/colorectal malformations Anal fistula

VACTERL/VATER association

Caudal regression sequence

Hirschsprung disease

Cloacal exstrophy

Workstream 2: functional urogenital conditions requiring highly specialised surgery

Complicated and complex pelvic floor disorders

Multi-compartimental prolapse and prolapse after Mesh repair

Male and female incontinence

Rectourinary fistulae

Rare diseases/conditions affecting the female urethra

Female strictures

Urethral diverticula in women

Vesico-vaginal fistulae

Rare diseases/conditions affecting male and female

Rectourinary fistulae

Urethroplasty

Post pelvic fracture surgery

Failed secondary urethral surgery

Ureterolysis

Rare retroperitoneal diseases/conditions Retroperitoneal fibrosis


Workstream 3: rare urogenital tumours

Penile cancer Squamous cell carcinoma of penis Distal urethral Squamous cell carcinoma Melanoma of the penis Kaposi sarcoma of the penis

Testicular cancer Non-seminoma Seminoma Non germ cell tumours

Abdomino pelvic sarcoma Soft tissue sarcoma

5. COVERAGE


Austria No …

Belgium Yes 3

Bulgaria No …

Croatia No …

Cyprus No …


Denmark Yes 2

Estonia No …

Finland No …

France Yes 2

Germany Yes 4

Greece Yes 4

Hungary No …

Ireland No …

Italy Yes 5

Latvia No …

Lithuania ? under discussion with 1 HCP ?

Luxembourg No …

Malta No …

Netherlands Yes 3

Poland Yes 1

Portugal Yes 1

Romania No …

Slovakia No …

Slovenia No …

Spain Yes 5

Sweden Yes 1 (possibly 2)


6. IT NEEDS

Highlighted in yellow is essential for the ERN to become operational in our view

Superfast broadband to enable secure exchange of patient information including diagnostic

imaging like CT and MR scans x-rays, blood results, urodynamic tests and cystoscopies,






























operative procedure video imaging – currently all this information can be saved as a file

attachment and encrypted to ensure patient confidentiality. The IT platform would need to

ensure IT exchange of this information that is encrypted is available as soon as possible to

the ERN HCPs. To ensure patient confidentiality, the encryption and the secure exchange of

data is essential for our ERN due to the anatomical nature of the images that need to be

exchanged.

Video conferencing facilities in the HCPs to enable a virtual MDT to discuss cases – prior to

this all the diagnostic information should have been exchanged.

Capacity for live video conferencing from the operating theatre to enable teaching and

education of highly specialised surgical techniques. We would also like to record these

operations and again be able to securely share the files with other HCPs for education and

training purposes. (This also requires a special head mounted video camera which the

surgeon wears during the operation or is installed in the operation theatre lights as well as a

separately installed camera).

Provision of a second opinion on diagnosis or treatments to other clinicians

Remote guidance and follow up (telemedicine and ehealth tools)

Remote monitoring and follow up (telemedicine and ehealth tools)

IT solution for collection of functional bladder information that is easy for the patient to

manage eg currently under development is an app for smart phones for patients to collect

functional bladder data and share it with their clinician (enables a more accurate diagnosis)

Website with public access and a secure area for HCPs

IT tools to support the performance management of ERN providers eg used in the healthcare

setting in the UK a performance dashboard is an effective tool. However, the ERN will first

need to specify the information management system etc that all HCPs should agree to.


None


23. RARE & COMPLEX EPILEPSIES (EPI-CARE)

potential thematic european reference network applications · potential thematic european reference...

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