The international umbrella organization NBIA Alliance and its mutual empowerment with the

EU-FP7-funded collaborative project TIRCON

Angelika Klucken*1, Heike Jaskolka1, Patricia Wood2, Naveed Ali3, Antonio Lopez4, Alie Nagel5, Fabrizia Scalise6, Natale Scalise6, Maayke Van Schijndel5, Jean-Loup Vasseur7, Florence Gauzy-Krieger, PhD8, Susan Hayflick, MD9, Thomas Klopstock, MD10

This work was funded by the European Commission’s Seventh Framework Programme

(FP7/2007-2013, HEALTH-F2-2011, grant agreement No. 277984, TIRCON).

INTRODUCTION • Neurodegeneration with Brain Iron Accumulation (NBIA) is a group of ultra-rare hereditary neurological

movement disorders characterized by high levels of iron in the basal ganglia and a progressive degeneration of the nervous system. Currently, there is no cure or proven therapy for any of the NBIA forms

• The international consortium TIRCON (Treat Iron-Related Childhood-Onset Neurodegeneration), funded by FP7 of the EU, is dedicated to the investigation of NBIA. 13 partners from 8 countries are conducting a clinical therapy study, preclinical studies for novel therapies and the setup of an NBIA patient registry and biobank in order to improve the infrastructure for NBIA research and care in Europe and the USA

• The lay advocacies, NBIA Disorders Association (USA) and Hoffnungsbaum e.V. (Germany), are full partners in TIRCON, AISNAF (Italy) associated as external partner. Based upon their experience in such collaborative projects, the long-standing NBIA advocacies have been promoting the creation of further interconnected patient groups

• The NBIA Alliance is the first informal international umbrella association for NBIA lay advocacies • Its main objectives are to increase awareness of NBIA in the health care community and the public, and to

support cooperative research into NBIA Disorders • The NBIA Alliance is an information platform and a first contact point for patients and clinicians where dedicated

structures are not yet in place. It plays an important role in translating scientific data into patient-friendly clinical knowledge

• We describe the launch, development, goals, activities, constraints and future options of the NBIA Alliance • We emphasize the mutual empowerment of the NBIA patients’ movement and the NBIA research and care

community in TIRCON

TIRCON‘S IMPACT ON THE NBIA ALLIANCE

ACKNOWLEDGEMENT

Name of organization Country Year of

foundation Non-profit-

status

Contact to NBIA patients

Milestones

NBIA Disorders Association (NBIADA) USA 1996 Yes 150 • 7 Family conferences • Funding over $1M in research • Involved in 5 symposia

Association internationale de Dystrophie Neuro Axonale Infantile (AIDNAI)

France 2000 Yes 9 • Extension to all NBIA Disorders • Identifying patients in France

Hoffnungsbaum e.V. – Verein zur Förderung der Erforschung und Behandlung von NBIA (HoBa)

Germany 2003 Yes 50 • 7 Family conferences • 3 grants (co-) funded • Focus on Networking

Associazione Italiana Sindromi Neurodegenerative Da Accumulo Di Ferro (AISNAF)

Italy 2006 Yes 18 • Raising Awareness in Italy • 6 grants awarded • Support for 3 Symposia

ENACH Associación – Asociacion Española De Enfermos Con Neurodegeneracion Por Acumulacion Cerebral De Hierro

Spain 2013 Yes 36 • Promoting 2 proposals • Cooperation with 16 hospitals • 26 patients in a short time

Stichting Ijzersterk – Vereniging voor de bevordering van onderzoek naar NBIA en de ondersteuning van patiënten

Netherlands 2014 Yes 8 • First successful fundraising • Launch of a foundation • Identifying patients in NL

NBIA UK UK in process in process 11 • Identifying patients in UK

1Hoffnungsbaum e.V., Velbert, Germany; 2NBIA Disorders Association, El Cajon, CA, USA; 3NBIA UK, Berkshire, UK; 4ENACH Asociación, Seville, Spain; 5Stichting Ijzersterk, Beek en Donk, The Netherlands; 6AISNAF, Rossano, Italy; 7AIDNAI, Paris, France; 8Bavarian Research Alliance, Munich, Germany; 9Oregon Health & Science University, Portland, OR, USA; 10The Ludwig Maximilian University of Munich, Munich, Germany

NBIA ALLIANCE PARTNERS

NBIA DISORDERS NBIA RESEARCH AND LAY ADVOCACY – A HISTORY OF AN INTERRELATIONSHIP

MUTUAL EMPOWERMENT OF TIRCON AND THE NBIA ALLIANCE GOALS OF THE NBIA ALLIANCE

BEGINNING STEPS AND ACHIEVEMENTS

CONCLUSIONS

• Startup and growth of the NBIA Alliance with the emergence of new NBIA patient groups, guided by the long-standing NBIA lay advocacies and the TIRCON-consortium, has an impact on the implementation of TIRCON projects and vice versa

• The NBIA Alliance and TIRCON are interconnected lay advocacy and scientific networks of outstanding importance and with impact on NBIA patients, physicians and researchers worldwide

• The NBIA Alliance is an interface between different stakeholders in both the NBIA and Rare Disease community (see adjacent graphics)

• The NBIA Alliance is a multiplicator of the rising knowledge of NBIA disorders • The NBIA Alliance is a promoter of sustainable, collaborative NBIA research • The NBIA Alliance is a supporter of the development of Best Practices guidelines for all NBIA Disorders that

will have an immediate impact on the medical care for NBIA individuals • The NBIA Alliance faces funding constraints for its lay advocacy work and serious time constraints of its

volunteers, making growth more difficult

= NBIA Alliance Partners = TIRCON Consortium = NBIA Alliance & TIRCON countries

NBIA UK

• NBIA patient representatives involved in the TIRCON consortium from the very beginning of the application process, leading to a full partnership of HoBa and NBIADA in TIRCON and an integration of AISNAF as external partner

• Start of an informal international NBIA umbrella, the NBIA Alliance, as part of TIRCON dissemination at the TIRCON Kick-off meeting in Munich in 2012

• NBIA Alliance patient day at the 2nd Joint International Symposium on NA and NBIA in Ede, Netherlands, in 2012 • Inspiration for new attendees in Munich and Ede to launch their own NBIA patient organizations in Spain, the

Netherlands and the UK and to expand the range of represented disorders to all NBIA variants by AIDNAI in France, respectively

• Continuous support of NBIA Alliance meetings and dissemination activities by TIRCON, thus impelling the development of the NBIA Federation

• Connection of NBIA Alliance partners to the network of NBIA experts in TIRCON, who share latest medical knowledge with the Alliance, thus enhancing the advocacies’ dissemination about NBIA research and medical care to different target groups

• Telemedicine support of TIRCON clinicians to NBIA patients world-wide, when a consultation with NBIA experts is required, especially where NBIA expert centers are still missing

• TIRCON provides an infrastructure for collaborative research and medical care, thus providing hope to patient families and their advocacies

RESOURCES THAT WE NEED

CURRENT AGENDA IMPLEMENTING OUR GOALS: POINTS OF DISCUSSION

• Funding to employ professional staff because we need to complement the volunteers’ work with additional manpower

• Management tools to achieve a clear organizational structure including internal governance

• Improved tools to overcome language barriers because we need to reach out to NBIA communities in different countries

• A strategy and action plan for long-term capacity building to strengthen our competencies and skills

• A legal entity to act as an international recognized research-funding charity

• Representing all NBIA diseases as an internationally united group with one voice, sharing a common vision and approach

• Defining common goals of the NBIA ALLIANCE • Implementation of a Corporate Identity for the Alliance‘s dissemination • International online accessibility in 5 languages by an NBIA Alliance site and

forum on the EURORDIS platform RareConnect as a virtual connector • Creation of an NBIA Alliance information brochure • Encouraging families in other countries to start non-profits in their country and

providing advice and experience during this process • Participating in the EU-funded FP7 project TIRCON with some members of the

Alliance as full partners and others participating as external partners • Working as a group to expand the pool of researchers studying NBIA • First steps to create an international NBIA Alliance Scientific Advisory Board

with leaders in the NBIA research field.

• Defining the structure and long-term strategic agenda of the NBIA Alliance • Raising awareness and increasing knowledge on all NBIA subtypes • Expansion of the NBIA Alliance by reaching out to new NBIA groups in other

countries • Networking and sharing information with emerging NBIA lay advocacies and

patient families world-wide, with clinicians and biomedical scientists, with stakeholders in Health Care policy and the rare disease field

• Defining criteria that qualify hospitals as NBIA expert centers • Updating and harmonizing verified disease information in lay advocacy and

other public health media in multiple languages • Ongoing support for the development and implementation of “Best Practices

Guidelines on the Management and Care of PKAN patients”, jointly funded by three NBIA Alliance partners in 2011

• Promoting the development of Best Practices Medical Guidelines on all NBIA subtypes to improve patients’ quality of life

• Establishing group forums for therapists treating NBIA patients to discuss therapy methods, resources, challenges and successes

• Advancing the NBIA Alliance site on RareConnect • Planning for the First Joint international NBIA Family Conference supported

by all NBIA Alliance partners • Increasing fundraising efforts for research grants

Development of a stragegic plan on actions to advance

• the NBIA Alliance itself:

Creation of a legal entity to promote sustainability, public recognition and funding opportunities Establishment of an NBIA Alliance governance responsible for the setting and implementation of

strategic actions in the field of NBIA related biomedical research towards therapy development, improved health care for our patients and advocacy in order to increase the NBIA Alliance’s impact

Gaining financial support to enable the NBIA Alliance to employ a part-time assistant

• NBIA research and care:

Promotion of collaboration of basic and clinical researchers in an NBIA Research Alliance Creation of an NBIA Alliance Scientific Advisory Board that is representative of all countries of the

Alliance and supports the goals of the NBIA Alliance Implementation of NBIA Alliance Research Grants Establishment of an annual NBIA Alliance Research Prize as an incentive for early-career scientists Supporting and enhancing an international clinical infrastructure for NBIA within the framework of

quality criteria for national „Centers of Expertise“ and „International Rare Disease European Reference Networks“, recommended by the EUCERD

• NBIA ALLIANCE public outreach: Creation of an NBIA Alliance website and an online-newsletter to help spread our message Development of information packages based on the upcoming „Best practices guidelines“ for both

clinicians and NBIA families

• To bring together all NBIA lay advocacy organizations around the world in a united voice of collaboration for our common goals

• A strategic plan for the future which will be implemented by all partners • Financial and organizational support for NBIA research, thus helping to

move the biomedical research towards more effective and, ultimately, curative treatments

• Promoting improved health care with early diagnosis, effective therapies, and an adequate psychosocial support with access for all those affected

• Helping NBIA families cope with these rare disorders and enabling them to network on an international level

• Distributing harmonized, validated biomedical and social information on all NBIA Disorders appropriately to different target groups

• Encouraging the growth of NBIA organizations in other countries and striving to help newly developing groups by sharing knowledge and being a resource to help them flourish and join the Alliance

• Networking and exchanging experiences with other organizations, research institutions and industry that share the Alliance’s goals in the field of rare diseases

• Identifying, encouraging and supporting new researchers interested in studying NBIA disorders

REFERENCES EUCERD Recommendations on Rare Disease European Reference Networks (RD ERNS), 31. 01. 2013 EUCERD Recommendations on Quality Criteria for Centres of Expertise for Rare Diseases in Member States, 24. 10. 2011

ALLIANCE‘S IMPACT ON TIRCON

Due to their networking capacities, the NBIA lay advocacies are playing an active role in TIRCON, mainly in the field of dissemination and contributing patients’ needs and views to the research project • Support for TIRCON patient recruitment for the NBIA registry, biobank

and clinical study by identification of eligible patient families • Helping identify further clinical and research centers, suitable for closer

connection to TIRCON, thus enlarging the NBIA expert community • Enhancing TIRCON‘s outreach as multiplicators of TIRCON dissemination

activities • Fundraising efforts for NBIA research projects and research-related

events, which help to advance the goals of TIRCON • Awarding a research prize for early-career scientists performing

outstanding research on NBIA • Engaging in a dialogue with stakeholders in the field of biomedical

research and public health care to raise awareness on NBIA • Endorsing promising collaborative research projects after TIRCON

DEVELOPMENT FIRST MEETING

NBIA ALLIANCE ONLINE

ACKNOWLEDGEMENT

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MAY 2014 by NBIA Alliance

Launch of the NBIA Alliance during the TIRCON Kick-Off meeting in January 2012 in Munich, Germany,

on the left: Patty (USA), Natale (Italy), Angelika (Germany), on the right: Naveed (United Kingdom), Antonio (Spain),

Jean-Loup (France)

2nd Symposium on NA & NBIA 2012: a step towards Stichting Ijzersterk (NL) fltr: Antonio (Spain), Jean-Loup (France), William, Maayke, Alie, Rikkert (all

Netherlands), Patty (USA), Angelika (Germany)

Networking TIRCON and other researchers to Spanish scientists. fltr: B. Nafria, A. Darling, M. Serrano, B. Pérez (CIBERER / San Joan de Deu), M. Kurian (UCL), S. Hayflick (TIRCON), A. López (NBIA Alliance / ENACH Associación) B

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