report on dissemination activities filegrant agreement no. 2009 12 04 3 1. dissemination strategy...

D08-00

Report on dissemination activities

Document Information Contract number 20091204 Document Type D08-00 Language GB Document status PS Format .PDF Authors Renata Linertová (FUNCIS), Julio López-Bastida (UCLM), Pedro

Serrano-Aguilar (SCS), Manuel Posada (ISCIII), Domenica Taruscio (ISS), Panos Kanavos (LSE), Rumen Stefanov (BAPES), Claudia Delgado (FEDER), Johann Matthias Graf von der Schulenburg (LUH), Ulf Persson (IHE), Giovanni Fattore (Bocconi), Karine Chevreul, Laszlo Gulasci (CPASF), Arrigo Schieppati (IRFMN), Alexander Kuhlmann (LUH), Elena Nicod (LSE), Yllka Kodra (ISS), Georgi Iskrov (BAPES), Ola Ghatnekar (IHE), Karen Brigham (UPEC), Márta Péntek (CPASF), Marianna Cavazza (Bocconi), Itziar Astigarraga (Euro-Histio-Net), Miguel A Ruiz (CREER)

This deliverable arises from the project "Social Economic Burden and Health Related Quality of Life in Patients with Rare Diseases in Europe" which has received funding from the European Union in the framework of the Health Programme.

The Executive Agency is not responsible for any use that may be made of the information contained in this document.

Grant Agreement No. 2009 12 04

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Content

1. Dissemination strategy ......................................................................................................... 3

1.1 Overall dissemination approach ..................................................................................... 3

1.2 Dissemination material ................................................................................................... 4

1.3 Target groups addressed ................................................................................................ 7

2. Dissemination activities ....................................................................................................... 10

2.1 Presentations at international and national events .................................................... 10

2.2 Presentations of initial results ....................................................................................... 14

2.3 Publications in peer-reviewed journals ......................................................................... 15

2.4 Other publications ......................................................................................................... 16

2.5 On-line presentation ...................................................................................................... 17

3. Promotion of recruitment ................................................................................................... 18

3.1 Bulgaria ........................................................................................................................... 19

3.2 France .............................................................................................................................24

3.3 Germany ........................................................................................................................ 26

3.4 Hungary ......................................................................................................................... 30

3.5 Italy ................................................................................................................................. 32

3.6 Sweden ........................................................................................................................... 35

3.7 Spain ............................................................................................................................... 37

3.8 United Kingdom ............................................................................................................ 40

4. Conclusions .......................................................................................................................... 43


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1. Dissemination strategy

The overall strategy described in this section defines relevant tools and approaches that have been

adopted to ensure a successful dissemination of the activities and results of the project to all target

groups.

1.1 Overall dissemination approach

Every effort was made to ensure that the project’s activities were disseminated to all interested

parties and stakeholders. Different media were used according to the nature of the information and

recipients. Three main groups of communication could be identified:

Internal dissemination among Associated and Collaborating partners – information was

disseminated through traditional means (phone, e-mail, mail), as well as on-line tools, i.e.

web page, intranet and social media (Facebook).

Presentation of the projects’ aims and results to the scientific community, policy makers and

general public – printed materials (leaflets, posters) were distributed at national and

international events; informative e-mails on the latest developments and achievements were

sent to interested parties; oral or poster presentation at national and international

conferences; results are being presented in specialised peer-reviewed journals.

Recruitment promotion through national federations of Rare Diseases (RDs) and patients’

organizations of concrete diseases – information on recruitment, including the links to the

electronic questionnaires, was promoted overall on-line by means of e-mailing, newsletters,

social media and websites of interested parties; an important role was given to meetings and

workshops with patients and their associations held at national and international events in

the field of RDs.

For each group, specific media and material were used, as indicated below.


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1.2 Dissemination material and media

BURQOL-RD logo

The logo of the project was designed in two versions:

It was used for all documents edited on behalf of the project, together with the logo of the EAHC as

the financing institution and FUNCIS as the coordinator.

Project Web Site

A web page was created and launched to provide information relating to the main aspects of the

project and to promote its activities. It constitutes one of the main tools for the dissemination of the

activities and the results of the project to all target groups. The web page is regularly updated with

news of the project and on-going and future Consortium activities.

The web page was initially housed at http://burqol-rd.com/ but it was subsequently redirected to

http://burqol-rd.eu/ as the “.eu” suffix was considered to be more appropriate for a European

project. However, the initial direction was also maintained.

A Questionnaires section was launched through the website in October 2011 to facilitate patient

access to the questionnaires. One page was dedicated to each participating country, containing a

short introduction and a complete list of the questionnaires available, ordered by disease, and that

could be accessed directly. When the recruitment phase was closed, these links were deactivated.

Project leaflet

Information pamphlets were edited three times during the project: first edition in May 2010, second

up-dated edition in May 2011 and third edition in October 2013 (attached).

Leaflets at a national level were also edited: Spain (October 2013), Bulgaria (October 2013), Germany

(December 2011 and October 2013), UK (October 2013).


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Project Poster

A poster presenting general information and the aims of the project was designed and displayed at

meetings and presentations.

Newsletters

The general information and aims of the project were mentioned at its outset in Eurordis Newsletter

on European level, as well as in newsletters of the project partners at a national level. Recruitment

was promoted through the newsletters of national RD federations and patients organizations for

each disease (where available).

Social media

A BURQOL-RD profile was created on the social network “Facebook”, the principal aim of which was

to promote recruitment in the RD patients’ associations that are active on Facebook and to capture

potential respondents (patients or their relatives) who are not associated to any patients’

organization.

Secondarily, this site was used to publish important milestones that were achieved by the

researchers, like new publications or important presentations. Recent publications from this profile

appear on the homepage of the project. The profile can be accessed on

https://www.facebook.com/pages/Burqol-Rd-International/279249402118613.

Social media (Facebook and Twitter) of the project’s collaborators have been used to promote the

projects objectives and to serve as important tools for the dissemination of the activities and the

results of the project. In addition, publishing links to the on-line questionnaires and promoting the

recruitment in social media improved the recruitment strategy.

Slide presentation

The first slide presentation was created at the beginning of the project and it was downloadable

from the web site. It contained the general information and aims of the project and its future

applications. During the project many different presentations have been prepared for events that are

detailed below. At the end of the project, a summary presentation was generated that in addition to

the aforementioned information, also contains the results of socio-economic burden of the diseases

in 8 countries (attached).


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Conferences/workshops

The project’s aims and results were presented at many national and international events (see

detailed lists in 2.1 and 2.2).

Direct mailing

Resume e-mails were sent periodically to all project’s stakeholders, including the representatives of

the EC, external collaborators, patients associations and project’s partners, informing about the

latest developments in the project and the objectives achieved.

Scientific publications

Before the end of the project, two scientific articles based on the methodology and results of

BURQOL-RD have been published in peer-reviewed journals:

o Linertová R, Serrano-Aguilar P, Posada-de-la-Paz M, Hens-Pérez M, Kanavos P, Taruscio D,

Schieppati A, Stefanov R, Péntek M, Delgado C, von der Schulenburg JM, Persson U, Chevreul K,

Fattore G, Worbes-Cerezo M, Sefton M, López-Bastida ,; BURQOL-RD Research Group. Delphi

approach to select rare diseases for a European representative survey. The BURQOL-RD study.

Health Policy. 2012 Nov; 108(1):19-26.

o López-Bastida J, Linertová R, Oliva-Moreno J, Posada-de-la-Paz M, Serrano-Aguilar P.

Social economic costs and helth-related quality of life in patients with systemic sclerosis in Spain.

Arthritis Care Res (Hoboken). 2013 sep 10.

Other papers are being prepared and will be published in the next few months. Moreover, a special

issue focused on the results of BURQOL-RD is being prepared for the European Journal of Health

Economics.


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1.3 Target groups addressed

We specify in the following table the target groups who might benefit from the outputs/outcomes

and the dissemination tools used to reach each target group.

Target group Benefits from the project Dissemination channels

Scientific community and professionals working in the field of rare diseases.

New tools to recognise, improve and update the knowledge on the socioeconomic and HRQOL consequences of RD in European countries.

A methodological/analytical framework for the analysis of socio-economic burden of disease from a health economic point of view.

BURQOLRD web page.

Participation at workshops, conferences, meetings and training courses in the field of RD.

Scientific publications in peer-reviewed journals.

Publications in non-peer-reviewed journals, web sites or self-edited materials (newsletters, pamphlets, universities/Institutes reports, book chapters, etc)

Publication of the project profile, newsletters, and publications in Facebook.

Experts from the field of health economics, health related quality of life, health planning and epidemiology within the EU.

An integrated and harmonized set of instruments to assess and monitor socio-economic burden and HRQL of patients affected by any RD, and their caregivers.


Tools based on communication technologies and recommendations to ensure widespread and efficient patients and caregivers participation in surveys.

BURQOLRD web page,

Participation at workshops, conferences, meetings and training courses.

Scientific publications in peer-reviewed journals

Publications in non-peer-reviewed journals, web sites or self-edited materials (newsletters, pamphlets, universities/Institutes reports, book chapters, etc).

Publication of the project profile, newsletters, and publications on Facebook.

Patients, caregivers and Patient Associations and Federations related to the 10 selected RDs across Europe.

Data on socioeconomic burden and HRQOL in the participating member states (MS) for the 10 selected RDs.

A methodological/analytical framework for the analysis of socio-economic burden of the selected 10 RDs from a health economic point of view in other EU countries.

Tools based on communication technologies and recommendations to ensure widespread and efficient patient and caregiver participation in surveys in the Participating MS and other EU countries.

BURQOLRD web page,

Patient recruitment promotion through national RD federations and patient organizations for specific diseases by means of e-mailing, mailing, newsletters, social media and websites of interested parties.

Organising meetings and workshops with patients and their associations in the participating MS.

Participation in national and international workshops, conferences, meetings and training courses in the


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An integrated and harmonized set of instruments to assess and monitor socio-economic burden and HRQL of patients affected by these 10 RDs and their caregivers in other EU countries.

field of RD.

On-line presentation of the project in newsletters of the Collaborating partners and social networks.

Distribution of leaflets and brochures at national and international events.

Setting up of formal contacts with the patient’s organisations related to the selected RDs.

RD patients, caregivers and RD Patient Associations related to other RDs.


An integrated and harmonized set of instruments to assess and monitor socio-economic burden and HRQL of patients affected by other RDs and their caregivers across EU countries.

Tools based on communication technologies and recommendations to ensure widespread and efficient patient and caregiver participation in the surveys.

BURQOLRD web page.

Participation in national and international workshops, conferences, meetings and training courses in in the field of RD.

Distribution of leaflets and brochures at national and international events in the field of RD.

Publication of the project profile, newsletters and publications in Facebook.

National Health Authorities, Regional health care systems and Health Policy makers within the EU.

An integrated package of tools and harmonised approach to assess the effectiveness of new policies and interventions for RDs across the EU, the cost-effectiveness of new treatments to prevent, diagnosis or provide better healthcare to patients with RD, as well as to reinforce existing initiatives in the area of social research and health policy development.

An integrated and harmonized set of instruments to assess and monitor socio-economic burden and HRQL of patients affected by different RDS at the different EU countries.

Knowledge serving as a major source of information for the RD Platform, assisting in the design of RD health policies at National, Regional and European level.

A model to be used for the different EU countries to recognise, improve and update their knowledge on the socioeconomic and HRQOL consequences of RD in their countries.

New key indicators regarding RD in Europe that will permit the updating of existing estimates and an improved extrapolation to the rest of the EU, as well as anticipating future information

Participation in Rare Diseases Schools for Health Authorities

Participation in meetings on European Actions in the field of RD organized by the EAHC.

Participation in national and international workshops, conferences, meetings in the field of RD.

Establishing formal contacts to National and Regional Health Authorities and Policy makers through the channels used by the National Federations and Alliances for Rare Diseases.

Sending emails directly to representatives of the National health authorities and policy makers with the final results (this will be done after the finalisation of the project).


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needs.

Other EU and National projects or research initiatives focused on RD.

Knowledge and tools to contribute to the collection and analysis of data in order to advance research into rare diseases.

Establishing a formal collaboration with the other consortia.

General public. Improved awareness and knowledge on RDs and their social relevance. Demonstration of how European collaboration can achieve scientific excellence, contributing to solve societal and health challenges.

Consortium web page.

Publication of the project profile Social media (Facebook).

Publications in non-peer reviewed journals, web sites or self-edited materials (newsletters, pamphlets, universities/Institutes reports, etc).

Using the communication tools of each partner institution and RD Patient Organisations.


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2. Dissemination activities

Dissemination of the goals and activities of the project to interested stakeholders has been achieved

through publication on the BURQOL-RD project webpage, as well as on other related web sites such

as www.eurordis.org, www.raredis.org and web sites of all the associated and collaborating

partners, and participating patients’ organizations (POs).

Internal dissemination has been managed through traditional means (phone, e-mail, social networks,

intranet).

For this document, we divided the external dissemination into the following activities:

- Presentation of the project (aims, methods, future implications)

- Presentation of the initial results

- Scientific publications in peer-reviewed journals

- Other publications in non peer-reviewed journals, web sites or self-edited materials

- On-line presentation of the project in newsletters of umbrella organizations and social

networks

- Promotion of recruitment via web sites, social networks, newsletters etc. of collaborating

POs in each country.

2.1 Presentations at international and national events

2010

“5th European Conference on Rare Diseases”, Krakow, Poland on 13-15 May 2010, where the

leaflet describing the project was distributed to some interested patient associations that

attended the meeting.

“5th Eastern European Conference for Rare Diseases and Orphan Drugs”, St Petersburg,

Russia, 2-4 July 2010 (FUNCIS and BAPES).

Bulgarian EUROPLAN National Conference for Rare Diseases, 28-30 May 2010, Plovdiv,

Bulgaria (BAPES).

Europlan I Conference, Budapest, Hungary 15-16 October, 2010 - Oral presentation,

introduction the BurQoL project, methods and goals, active participation in various sessions

(CPASF).


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Roundtable discussion on the rare diseases patients' role in health policy making, Plovdiv,

Bulgaria. 29 October 2010 (BAPES).

Confederation for Health Protection's Workshop on the EU health policy's initiatives, 18-19

December 2010, Velingrad, Bulgaria (BAPES).

2011

Annual assembly of the National Alliance of People with Rare Diseases, Hisarya, Bulgaria. 22-

23 January 2011 (BAPES).

Bulgarian-Turkish workshop on rare diseases, 19-20 February 2011, Edirne, Turkey (BAPES).

Rare diseases training seminar for medical students, Zdravets, Bulgaria. 9-10 April 2011

(BAPES).

Second All-Russian Rare Diseases Conference, 21-22 April 2011, Saint Petersburg, Russia

(BAPES).

Eurordis Membership Meeting, Amsterdam, May 14, 2011 (FUNCIS) – oral presentation of the

project.

Bulgarian Gastroenterology Society Board Meeting, Borovets, Bulgaria. 11 June 2011 (BAPES).

Second National Conference for Rare Diseases, Plovdiv, Bulgaria. 9-11 September 2011

(BAPES). BURQOL-RD recruitment workshop with patients, Plovdiv, Bulgaria. September 2011

(BAPES).

“Rare Diseases Summer School 2011”, 11-18 September 2011, Sunny Beach, Bulgaria (IIER, ISS,

and BAPES).

Meeting Research Consortium, Montreal, Canada. October, 8-10, 2011 (ISS).

Disease Summit workshop, Amsterdam, Netherlands. October, 19-20, 2011 (ISS).

Epidermolysis Bullosa training workshop, DEBRA Bulgaria, Sofia, Bulgaria. October 2011

(BAPES).

Annual Meeting of the Histiocyte Society, October 17-19, 2011, Vienna, Austria (Euro-Histio-

Net).

“European Actions to improve the life of patients living with rare Diseases", organized by

EAHC, Luxembourg, October 25-26, 2011 (FUNCIS).

2nd South Caucasia Conference on Rare Diseases and Orphan Drugs, Tbilisi, Georgia. October

2011 (BAPES, ISS).

Europlan II Conference, Budapest, 16-17 November, 2011 – Oral presentation, continuous

consultations with POs and specialist (CPASF).


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6th Eastern European Conference for Rare Diseases and Orphan Drugs & 1st Turkish National

Rare Diseases Symposium, Istanbul, Turkey. November 2011 (BAPE, ISS).

Eurobiomed Meetings on Rare Diseases, Montpellier, France. November, 4 2011 (ISS).

Disability related with Rare Diseases. Proceedings of the Educational School FEDER CREER

2011. The National Reference Care Centre for People with Rare Diseases and their Families,

Burgos, Spain. November 2011 (IIER).

4th European Symposium on Rare Anemias, ENERCA Project Consortium, Thalassemics’

Organization in Bulgaria, Sofia, Bulgaria. November 2011 (BAPES).

Wie groß ist die Belastung von Menschen mit Seltenen Erkrankungen und Pflegepersonen in

Europa – Ein Überblick über das Forschungsprojekt BURQOL RD? – Press release for patients

with RD in Germany. December 2011 (LUH).

2012

BURQOL-RD: Sozioökonomische Kosten und gesundheitsbezogenen Lebensqualität von

Patienten mit Seltenen Erkrankungen, Center for Health Economics Research Hannover,

Leibniz University Hannover. Germany. January 2012 (LUH).

Rare Diseases Workshop, Bologna, Italy. January 2012 (ISS).

8th EGAN / Roche Strategy Workshop “Data sharing & Therapy development: Possibilities

and Pitfalls”, Basel, Switzerland. January 2012 (BAPES).

Meetings with representatives of patients associations, Paris, France. January-September

2012 (UPEC).

7th ICORD International Conference on Rare Diseases and Orphan Drugs, Tokyo, Japan.

February 2012 (BAPES, ISS).

1st Balkan Conference for Rare Diseases, Sofia, Bulgaria. March 2012 (BAPES).

Annual meeting of the Information Centre for Rare Diseases and Orphan Drugs’ Advisory

Board – Workshop for medical professionals, Plovdiv, Bulgaria. March 2012 (BAPES).

2nd Rare Diseases Summer School for Health Authorities and Legislators. European Actions

on Rare Diseases – Workshop for policy makers, Halkidiki, Greece. April 2012 (BAPES, IIER

ISS).

Le Malattie Rare incontrano i medici, Cortona, Italy. April, 21 2012 (ISS).

The BURQOL-RD project in Hungary – Workshop to present goals of the project to PO

representatives in Hungary. Budapest, Hungary. April 2012 (CPASF).


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Russia’s Federal Medico Biological Agency workshop on rare diseases – Workshop for policy

makers, Moscow, Russia. April 2012 (BAPES).

Euro-Mediterranean Conference, Barcelona, Spain. April, 2-4 2012 (ISS).

The 2nd Global Congress for Consensus in Paediatrics & Child Health, Moscow, Russia. May

17-20, 2012 (ISS)

6th European Conference on Rare Diseases & Orphan Products, Brussels, Belgium. May 23-25

2012 (ISS, FUNCIS).

First Eurasian Conference on Rare Diseases & Orphan Products and Third All-Russian

Conference for Rare Diseases and Rarely Used Medical Technologies “Lifeline”, Moscow,

Russia. June 2012 (IIER, BAPES, ISS).

3rd National Conference for Rare Diseases and Orphan Drugs - BURQOL-RD dissemination

workshop with patients, Plovdiv, Bulgaria. September 2012 (BAPES).

Epidermolysis Bullosa Congress, Madrid, Spain. October 2012 (FEDER).

Importance and challenges of assessing health related quality of life in rare diseases in

Europe – the BURQOL-RD project. Issue panel at ISOQOL Conference, Budapest, Hungary. 26

October 2012 (CPASF).

IV Congresso Nazionale Congiunto SIMMESN e SIMGePeD, Mestre, Italy. December, 4 2012

(ISS).

2013

XVI Convegno Patologia Immune E Malattie Orfane, Torino, Italy. January, 18-19 2013 (ISS)

Russian National EUROPLAN conference, Moscow, Russia. February 2013 (BAPES).

National cystic fibrosis awareness raising campaign. Kick-off press conference, Plovdiv,

Bulgaria. 28 February 2013 (BAPES)

Ukrainian National EUROPLAN conference, Kiev, Ukraine. March 2013 (BAPES).

2nd Balkan Conference for Rare Diseases, Sofia, Bulgaria. April 2013 (BAPES).

1st IRDIRC Conference, Dublin, Ireland. April 15-17, 2013 (ISS).

3rd Rare Diseases Summer School for Health Authorities and Legislators, Antalya, Turkey.

May 2013 (BAPES, ISS, IEER).

European Actions on Rare Diseases, Master Programme Rare Diseases Training, University of

Santiago de Compostela, Spain. Presentation of BURQOL-RD targeted to psychologists and

therapeutic professionals. May 2013 (IIER).


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Socio-economic burden of rare diseases: results of the BURQOL-RD project, Annual Meeting

of the Hungarian Rheumatologists Association. Debrecen, Hungary. 27-29 September 2013

(CPASF).

4TH National Conference for Rare Diseases and Orphan Drugs. Plovdiv, Bulgaria. 13-14

September (BAPES).

1ST National Conference on Rare Diseases for Medical Students. Plovdiv, Bulgaria. 14

September (BAPES).

Europlan IV Conference, Budapest, Hungary, 25 October, 2013 - Oral presentations, Health

economic aspects of rare diseases and recruitment results of the BURQOL-RD questionnaire

survey (CPASF).

8th International Conference on Rare Diseases and Orphan Drugs (ICORD), Saint Petersburg,

Russia. 1-2 November 2013 (BAPES, IEER, ISS).

2.2 Presentations of initial results

3rd National Conference for Rare Diseases, Bulgaria, 14-15 September 2012 (BAPES):

o Presentation at the main conference (poster and leaflet)

o Parallel BURQOL-RD dissemination workshop

o Presentation at the National Alliance of People with Rare Diseases' Annual Assembly

o Presentation at the Cystic Fibrosis Association's patient workshop

o Presentation at the Annual Workshop of the Organisation of Thalassemia Patients in

Bulgaria

International Society for Pharmacoeconomics and Outcomes Research (ISPOR) Congress,

Berlin, Germany. November 2012 (FUNCIS).

VI Congreso de medicamentos huérfanos y enfermedades raras, Sevilla, Spain – Oral

presentation for representatives of POs and public. February 2013 (FUNCIS).

Jornadas de Medicamentos Huérfanos y Enfermedades Raras, Valencia, Spain – Workshop

with oral presentation of Spanish results for professionals and researchers. April 2013

(FUNCIS, SCS).

4th National Conference for Rare Diseases, Bulgaria, 13-14 September 2013 (BAPES):

o Presentation at the main conference (poster)

o Presentation at the National Alliance of People with Rare Diseases' Annual Assembly

IV Escuela de Formación CREER – FEDER 2013. Burgos, Spain. September 20-21, 2013 (FUNCIS,

SCS):

o Presentation of Spanish results at the main conference


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o Workshop with patients and representatives of the Spanish Cystic Fibrosis Federation

and the Association against Cystic Fibrosis of Madrid

o Workshop with patients and representatives of the Spanish Epidermolysis Bullosa

Association (DEBRA Spain)

o Workshop with patients and representatives of the Haemophilia Association of Andalucía

o Workshop with patients and representatives of the Spanish Association against

Histiocytosis

o Workshop with patients and representatives of the Neuromuscular Diseases Association

of Valencia Region

o Workshop with patients and representatives of the Spanish Association for Prader-Willi

Syndrome and the Catalan Association for Prader-Willi Syndrome

I Congreso Iberoamericano de Enfermedades Raras, Totana, Spain. October 2013 (SCS,

FUNCIS).

International Conference on Rare Diseases & Orphan Drugs (ICORD) 2013, St Petersburg,

Russia. November 2013 (IIER).

Europlan IV. Conference, Budapest, Hungary, 25 October, 2013 - Oral presentations,

Preliminary results of the BURQOL-RD - focus on Central and Eastern European Countries

(CPASF).

Corvinus University Health Economics Study Circle meeting: Points to consider in the

assessment of disease burden of rare diseases – lessons learned from the BURQOL-RD

project. November, 2013, Budapest, Hungary (CPASF).

2.3 Publications in peer-reviewed journals

Alonso V, Villaverde-Hueso A, Hens M, Morales-Piga A, Abaitua I, Posada de la Paz M. Public

health research on rare diseases. Georgian Med News. 2011 Apr;(193):11-6. Available from:

http://www.ncbi.nlm.nih.gov/pubmed/21617266 (IIER).

Linertová R, Serrano-Aguilar P, Posada-de-la-Paz M, Hens-Pérez M, Kanavos P, Taruscio D,

Schieppati A, Stefanov R, Péntek M, Delgado C, von der Schulenburg JM, Persson U, Chevreul

K, Fattore G, Worbes-Cerezo M, Sefton M, López-Bastida J; BURQOL-RD Research Group.

Delphi approach to select rare diseases for a European representative survey. The BURQOL-

RD study. Health Policy. 2012 Nov; 108(1):19-26.


16

López-Bastida J, Linertová R, Oliva-Moreno J, Posada-de-la-Paz M, Serrano-Aguilar P. Social

economic costs and health-related quality of life in patients with systemic sclerosis in Spain.

Arthritis Care Res (Hoboken). 2013 sep 10. (FUNCIS).

2.4 Other publications

BURQOL-RD project was included in the annual reports of the Corvinus University of

Budapest Department of Health Economics (former Health Economics and Health

Technology Assessment Research Centre). The report is sent yearly via mail to about 350

partners (CPASF).

“Proyecto BURQOL-RD. Los costes socioeconómicos y la calidad de vida relacionada con la

salud en pacientes con enfermedades raras.” Article in Bien Estar Journal of DEBRA España

(Epidermolysis Bullosa patients association). Nº43, page 5-6. November 2012 (FUNCIS).

Available from: http://www.debra.es/fotos/EstarBien_43_web.pdf

“Disability related with Rare Diseses” - book chapter from “Escuela de Formación CREER-

FEDER 2011”, December 2011, SE-9497-2011. National Reference Care Centre for People with

Rare Diseases and their Families (Centro de Referencia Estatal de Atención a Personas con

Enfermedades Raras y sus Familias), Ministry of Health, Burgos, Spain (IIER). Book is free

distributed by National Reference Care Centre for People with Rare Diseases and their

Families. Also free PDF available from:

http://www.creenfermedadesraras.es/InterPresent2/groups/imserso/documents/binario/guia

creer-federact.pdf

Report Analysis: Why pharmaceutical copayment waiver request? Why ask for exemption of

certain diseases in the exclusion of drugs? We analyze BURQOL-RD. Open access publication

in FEDER´s Website. November 2012 (FEDER).

Research report: Seltene Erkrankungen in Europa: Wie groß ist die Belastung von Menschen

mit Seltenen Erkrankungen und Pflegepersonen? Leigniz University Hannover, April 2012

(LUH).

Book chapter (electronic): “Az életminőség értékelése ritka betegségekben” In: Péntek M.

“Az életminőség értékelése és közgazdaságtani jelentősége” [Assessment of health related

quality of life in rare diseases. In: Péntek M. Economic importance and assessment of quality

of life] Budapesti Corvinus Egyetem Egészségügyi Közgazdaságtan Tanszék, Budapest, 2013,

pages 82-87. Available at: http://hecon.uni-corvinus.hu (CPASF).


17

Book chapter (electronic): “Gyakorlati példák: betegségteher értékelése krónikus

betegségekben – cisztás fibrózis” In: Péntek M. “Az életminőség értékelése és

közgazdaságtani jelentősége” [Disease burden in chronic disorders - cystic fibrosis. In.

Péntek M. Economic importance and assessment of quality of life] Budapesti Corvinus

Egyetem Egészségügyi Közgazdaságtan Tanszék, Budapest, 2013, pages 120-141. Available at:

http://hecon.uni-corvinus.hu (CPASF).

Research report: A BURQOL-RD projekt tapasztalatai és eredményei – kutatási jelentés

klinikusoknak és döntéshozóknak. [Lessons learned from and preliminary results of the

BURQOL-RD project – report for clinicians and decision makers] (CPASF).

2.5 On-line presentation

Mention of BURQOL-RD in CREER Newsletter. Electronic bulletin from The National

Reference Care Centre for People with Rare Diseases and their Families, Burgos, 2011

Available at:

http://www.creenfermedadesraras.es/creer_01/documentacion/boletindigitalcreer/2011/news

_agosto/iier_informa_agosto/iier_colabora_burqol/index.htm

Mention of BURQOL-RD in the Eurordis Newsletter (25/7/2011). Available at:

http://www.eurordis.org/content/burqol-rd-project

Mention of BURQOL-RD in CREER Newsletter. 5th International Congress on Orphan Drugs

and rare Diseases. Electronic bulletin from The National Reference Care Centre for People

with Rare Diseases and their Families, Burgos, 2011 Available

at:http://www.creenfermedadesraras.es/creer_06/documentacion/boletindigitalcreer/2011/fe

brero/creerinforma_feb/congreso_internacional_er/index.htm

For the Rare Disease Day 2012 BAPES prepared a special edition of their "Rare Diseases &

Orphan Drugs" newsletter, March 2012. BURQOL-RD was one of its main features. Link:

http://www.raredis.org/?page_id=2311&mel=7&smel=71&lang=en

The recruitment was announced in some local newsletters edited by patient organizations

(see below for the detailed actions of recruitment promotion).

Social network appearance: profile of the project on facebook. Available at:

http://www.facebook.com/pages/Burqol-Rd-International/279249402118613 and

http://www.facebook.com/pages/BURQOL-RD/247274868662392

A Bulgarian speech therapy webportal has published a BURQOL-RD news on their website in

Jan, 2012 under: http://logopedia.bg/


18

3. Promotion of recruitment

The aim of the recruitment process was to identify and include as many patients as possible among

those affected in the participating countries by one of the 10 RDs selected.

The recruitment was based on the delivery of successive e-mails with links to web-based

questionnaires that were distributed by patient associations and where many patients were

unavailable by e-mail, paper questionnaires were sent.

Patient organizations (POs) were also asked to send two reminders to all patients two and four

weeks after launching the initial e-mail round. There was no possibility of selective reminders, given

that no personal identification was requested in the questionnaires. Once patients and/or their carers

accessed the questionnaire, they were asked to consent to participate by checking a box after being

informed about the project objectives and procedures.

Links to all questionnaires for the ten RD included in their adult and child (aged under 18) versions

were also set up on the project’s website (www.burqol-rd.eu). All the organizations involved in the

project were requested to support recruitment by publishing the BURQOL-RD website link on their

respective websites, social media, newsletters, etc.


19

3.1 Bulgaria

The public health system in Bulgaria does not envisage a routine follow up for most of the 10

BURQOL-RD selected RD. Currently, only CF, PWS, HEMO and MPS (MPS was added to this group in

mid-2012) patients are regularly followed up. This monitoring is required by the health insurer, which

is fully or partially reimbursing the expensive medicinal treatment use by these patients. On the

other hand, RD like JIA, FXS, and SCL are currently practically untraceable in Bulgaria. Having been

diagnosed, these patients are only symptomatically treated by their family physician.

There is currently no official National registry for rare diseases in Bulgaria. Specific registries for

single rare diseases exist within medical institutions but only for internal use. In this context, the

registry of the RD inquiries at the Information Centre for Rare Diseases and Orphan Drugs, ICRDOD

(a project of BAPES, started in 2004) has proved to be an excellent database for BURQOL-RD

recruitment in Bulgaria. This registry contains thousands of contact details of patients and carers

that had previously approached ICRDOD. Target groups have been defined from this database and

contacted multiple times by e-mail and phone calls for BURQOL-RD recruitment.

Additionally, RD-specific patient organisations and recognised medical experts were contacted when

available and asked to collaborate with BRUQOL-RD recruitment.

Coordination:

Name of

organization Recruitment process Link of the publication

Research Centre

Bulgarian Association for Promotion of Education and Science (BAPES)

-BAPES used their own patient database. They have been running a rare diseases information centre since 2004 and they contacted all the patients registered there by e-mail. -BAPES used the existing Internet tools (forums, social networks, etc.) to promote the BURQOL-RD questionnaires. Some of the patient associations were running their own website, they were asked to post news about the project. -They used public events such as conferences, workshops to promote the project.

Additional BURQOL-RD information channels by us: - BAPES/ICRDOD website - http://www.raredis.org/?s=burqol - BAPES newsletter - http://raredis.org/pub/Newsletter/Newsletter_7_BG.pdf - ICRDOD FB page - http://www.facebook.com/ICRDOD.

Nat. Fed. of RDs

National Alliance of People with Rare Diseases (NAPRD)


20

National Patient Organizations:

Name of

organization; Contact person

Recruitment process Link of the publication

CF

BAPES/ICRDOD helpline service database

√

ICRDOD helpline service database contains 52 contacts of patients with CF. They were contacted in Dec, 2011. Reminders were sent out again at the end of February, just before the Day of RD.

CF PO √

The Cystic Fibrosis Association is a very active organisation of CF patients and their families. It promoted recruitment within its membership.

Promotion on their website: http://www.lifewithcf.org/index.php?option=com_content&view=article&id=241:anketa&catid=55:2009-06-06-20-43-15&Itemid=70. Facebook group: http://www.facebook.com/group.php?gid=84890089344&v=wall.

PWS


√

ICRDOD helpline service database contains 25 contacts of patients with PWS. They were contacted in Dec, 2011. Reminders were sent out again at the end of February, just before the Day of RD.

Medical Professionals

√

A PWS parents seminar at the Paediatric Endocrinology Clinic in Varna was used to distributed paper questionnaires to PWS parents.

Contacting endocrinologists in Jan, 2012. - Paediatric Clinic, St Marina University Hospital, Varna, a regional reference centre for paediatric PWS patients - Endocrinology and Genetics Clinic, University Paediatric Hospital, Sofia), a regional and national reference centre for paediatric PWS and MPS patients - National Genetic Laboratory, Sofia, a national reference centre for genetic counselling and lab services - Screening Sector, University Paediatric Hospital, Sofia, a national reference centre for rare diseases screening.

PWS PO − The Bulgarian PWS PO is no longer active.


21

HEMO

Bulgarian Hematology Society

√


√

Contacting haematologists in Jan, 2012. (PWS). - Haematology Clinic, St George University Hospital, Plovdiv, a regional reference centre for adult HEMO patients - Paediatric Oncohaematology Clinic, St George University Hospital, Plovdiv, a regional reference centre for paediatric HEMO patients - Paediatric Oncohaematology Hospital, Sofia, a national and regional reference centre for paediatric HEMO patients

HEMO PO

√

The Bulgarian Haemophilia Society is a very active organisation of HEMO patients and their families. It promoted recruitment within its membership.

PO has published a BURQOL-RD announcement on their website - http://hemo-bg.org/index.php/site/article/46/bg.

DMD

DMD PO X

The Bulgarian Neuromuscular Disease Patient Organisation is an umbrella organisation for all neuromuscular diseases. They did not show any interest in the project.


√

The ICRDOD helpline service database contains 89 contacts of patients with DMD. They were contacted in Dec, 2011. Reminders were sent out again at the end of February, just before the Day of RD.

EB


√

The ICRDOD helpline service database contains 15 contacts of patients with EB. They were contacted in Dec, 2011. Reminders were sent out again at the end of February, just before the Day of RD.


√

Contacting dermatologists in Jan, 2012. (PWS). - Dermatology Clinic, George Stranski University Hospital, Pleven, a regional reference centre for EB patients

EB PO √

DEBRA Bulgaria is a very active organisation of EB patients and their families. It has promoted recruitment within its membership.


22

FXS

There is no FXS PO in Bulgaria

X


√

Contacting geneticists in Jan, 2012.(PWS). - Human Genetic Department, George Stranski University Hospital, Pleven - Human Genetic Department, St George University Hospital, Plovdiv - Human Genetic Department, St Marina University Hospital, Varna - Endocrinology and Genetics Clinic, University Paediatric Hospital, Sofia) - National Genetic Laboratory, Sofia, a national reference centre for genetic counselling and lab services

SCL


√

The ICRDOD helpline service database contains 8 contacts of patients with SCL. They were contacted in Dec, 2011. Reminders were sent out again at the end of February, just before the Day of RD.

There is no SCL PO in Bulgaria

X

MPS


√

The ICRDOD helpline service database contains 3 contacts of patients with MPS. They were contacted in Dec, 2011. Reminders were sent out again at the end of February, just before the Day of RD.

MPS PO √

The National MPS Organisation is a very active organisation of MPS patients and their families. It promoted recruitment within its membership.

JIA

There is no JIA PO in Bulgaria

X


√

The ICRDOD helpline service database contains 2 contacts of patients with JIA. They were contacted in Dec, 2011. Reminders were sent out again at the end of February, just before the Day of RD.

HISTIO There is no HISTI PO in Bulgaria

X


23


√

The ICRDOD helpline service database contains 29 contacts of patients with HISTIO. They were contacted in Dec, 2011. Reminders were sent out again at the end of February, just before the Day of RD.


√

Contacting haematologists and immunologists in Jan, 2012. (PWS). - Haematology Clinic, St George University Hospital, Plovdiv, a regional reference centre for adult HEMO patients - Paediatric Oncohaematology Clinic, St George University Hospital, Plovdiv, a regional reference centre for paediatric HEMO patients


24

3.2 France

Coordination:

Name of organization

Participation Recruitment process

Research Centre

University Paris Val de Marne

National Coordinator

Nat. Fed. of RDs

Alliance Maladies Rares


-Promotion on their website: http://www.alliance-maladies-rares.org/article/projet-europeen-sur-les-maladies-rares-158 and http://www.alliance-maladies-rares.org/article/prolongation-du-projet-burqol-rd-projet-europeen-sur-les-maladies-rares-187.


Name of organization

Partici-pation Recruitment process Link of the publication

CF

Centre de Référence Maladies Rares Mucoviscidose de Nantes-Roscoff [Nantes CF reference centre]

√

-This organization is a professional society and not a patient organization.

-The reference centre got involved at the late stage of the project in February 2013.

-The person responsible has presented the project on the meeting of the French CF Society on the 25th March, 2013.

PWS Assotiation Prader-Willi France

√

-This organization was the first French PO to start recruiting patients by sending out an invitation to participate in the project on 5th July, 2013.

-Online and paper recruitment (from Oct, 2012).

-Promotion on their website.

-Also uploaded an information sheet on their website about the project.

http://www.prader-willi.fr/participez-au-projet-europeen-de-recherche-sur-la-qualite-de-vie-des-patients-atteints-de-maladies-rares-en-europe/. and http://prader-willi.fr/wp-content/uploads/BURQOL-RD_Presentation_FR.ppt.

HEMO

Association française des hémophiles – AFH

√

-First the project was introduced at their General Meeting on the 29th Sept, 2012. -The National Coordinator relaunched recruitment again in the mid-Oct.


25

DMD AFMTéléthon X

The PO refused to participate in the project with the explanation: they also run a questionnaire which is broader than the BURQOL-RD. They did not feel appropriate to mobilize the families twice during the same period.

EB

DEBRA France- EBAE Epidermolyse Bulleuse Association d'Entraide

√

-They have contacted directly their own patients and also patients through the Reference Centres of Necker, Nice and St Louis. -The project was published in their internal paper. They also promised to promote the project on their website.

FXS

Mosaiques √ -Promotion on their website. -Online and paper recruitment: emails and 300 paper formats (150 adults+150 children) were sent out to patients to invite them and their carers to the survey in Dec, 2012.

http://mosaiques-xfragile.pagesperso-orange.fr/.

Association Le Goeland X-Fragile

√

SCL Association des Sclérodermiques de France

√

-Besides the standard invitation emails and the promotion on their website, they published an article in their online newsletter and sent it to 603 members (they have 1200 members and 603 of them have an e-mail). -Promotion on their website.

http://www.association-sclerodermie.fr/la-recherche-medicale/enquete-internationale.html.

MPS Vaincre les maladies lysosomales

X

The first reaction of the PO was positive, then they refused to participate in the project as they felt that the questionnaire was not adapted to the Mucopolysaccharidosis.

http://www.sallsyntadiagnoser.se/

JIA

PO for neuromusculaire

X They were in process of distributing their own questionnaire to their members.

Rheumatism PO X They do not work in Juvenile idiopathic arthritis and do not have joint initiatives.

Fondation Clarens

X They seek to ameliorate life conditions for persons who have rheumatism (adults and children).

HISTI Association Histiocytose France

√ -Online and paper recruitment in Nov, 2012 (it was requested by some elder people). -Promotion on their website.

http://www.histiocytose.org/agenda-france.html#53.


26

3.3 Germany

Coordination:

Name of the organization


Research Centre

Leibniz University Hannover (LUH)


Supported the recruitment of patients by contacting relevant institutions in Germany, such as NAMSE, ACHSE, national POs; ENCA, PReS, EUSTAR - sent over 200 mails - over 50 phone calls - press release - informational leaflet - cover letter for all relevant diseases - reviewing of several information texts for homepages, mails etc. - conducting information texts for PWS, Hemo, Eurordis in German, ENCA, PReS, JIA (international)

Nat. Fed. of RDs

ACHSE

Although ACHSE agreed to support the project, they have only supported the project by publishing one BURQOL-RD article on their website.

Promotion on the website (http://www.achse-online.de/)


Name of

organization Participation Recruitment process

Links to other publications

CF

Mukoviszidose e.V. Bundesverband Cystische Fibrose

√ Around 5,400 members

1.) Start of recruitment on the 13th February 2012 - mail to members (≈1,000 members) - homepage (http://muko.info/nc/mukoviszidose/news-detail-und-archiv/detailansicht/article/studienteilnehmer-mit-cf-gesucht/1571.html) - Twitter (≈1,000 followers; https://twitter.com/mukoinfo/status/169016080361201664) - Facebook (http://de-de.facebook.com/mukoinfo/posts/275934739143359?comment_id=2401417) 2.) 1st reminder end of May 2012 - mail to members 3.) 2nd reminder beginning of September 2012 - mail to members

http://www.bewaehrte-originale.de/service/pressemeldung.php?clw=1280&ref=Mukoviszidose&sid=4a3d0b0901c7d583c29ae82233569df4


27

PWS

Prader Willi Syndrom Vereinigung Deutschland e.V.

√ Around 600 members.

1.) Start of recruitment on the 1st April 2012 - Newsletter - homepage (http://www.prader-willi.de/; http://www.prader-willi.de/index.php?option=com_content&view=article&id=3:aktuelles&catid=1:aktuelles) 2.) 1st reminder end of Mai - mail to local groups 3.) 2nd reminder beginning of July - Newsletter (file attached) 4.) 3rd reminder - mail

http://www.prader-willi.de/; and http://www.prader-willi.de/index.php?option=com_content&view=article&id=3:aktuelles&catid=1:aktuelles

HEMO

Deutsche Haemophiliegesellschaft

X Refused to participate in the project due to the research topics and other studies.

Interessengemeinschaft Hämophiler e.V.

√ Around 300 members

1.) Start of recruitment on the 3rd February 2012 - mail to members (≈300) - homepage - twitter - Facebook 2.) 1st reminder end of May 2012 - mail to members - info letter to members - journal to members - homepage - Twitter 3.) 2nd reminder beginning of September - mail to members - homepage

http://www.igh.info/nachrichten/aktuelles/aktuelles/2012/forschungsprojekt-bu.html and http://www.igh.info/nachrichten/aktuelles/aktuelles/2012/burqol-studie-schlie.html Twitter: https://twitter.com/IGH_eV/status/165376015714091008

DMD

Deutsche Gesellschaft für Muskelkranke e.V.


1.) Start of recruitment on the 7th February 2012 - mail to members (≈300) 2.) 1st reminder end of March 2012 - info letter to members (≈230)

Aktion benni & co. e.V.

X Refused to participate.

Questionnaire not specific enough. The DMD PO has a close partnership with a medical school and currently they carry out a project together, which was a priority.

EB

Interessengemeinschaft Epidermolysis Bullosa e.V.

√

Around 300 members (200 of them are patients).

1.) Start of recruitment on the 5th March 2012 - homepage 2.) 1st reminder end of May 2012 - homepage - newsletter mailed to members 3.) 2nd reminder beginning of September 2012 - mail to members - homepage

http://www.ieb-debra.de Newsletter: http://tools.emailsys.net/mailing/62/161796/652411/pb0t6b/index.html


28

FXS Interessengemeinschaft Fragiles-X e.V.

X

Refused to participate in the project due to the research topics and other studies

There was not an alternative PO found that would have supported the recruitment of patients with FXS. The Spanish FXS PO contacted the German PO to ask for their participation.

SCL

Sklerodermie Selbsthilfe e.V.

√ 1200-1300 members.

1.) Start of recruitment on the 10th January 2012 - homepage - leaflet to local groups 2.) 1st reminder on the 12th March - homepage 3.) 2nd reminder beginning of September - homepage

http://www.sklerodermie-selbsthilfe.de/forum/viewtopic.php?f=3&t=146&sid=bfbdc7930560476fac99f1f78081be02

EUSTAR X (no reply)

FESCA √ Involved in the project on international level

MPS Gesellschaft für Mukopolysaccharidosen e.V.


1.) Start of recruitment on the 27th February 2012 - mail to members (≈450) 2.) 1st reminder end of Mai - mail to local groups 3.) 2nd reminder beginning of September - mail to members

JIA

JIA PO X There is no JIA PO in Germany.

Deutsche Rheuma-Liga Bundesverband e.V.

√

1.) Start of recruitment on the 7th February 2012 - newsletter - family circles 2.) 1st reminder end of May 2012 - newsletter - family circles

http://www.rheuma-online.de/news/news-archiv/artikel/patientensicherheit-eine-frage-de/kategorie/startseiten-kategorien/seite/5.html

HISTIO Histiozytosehilfe e.V.


1.) Start of recruitment on the 5th March 2012 - mail to members (≈300) 2.) 1st reminder end of July 2012 - mail to members 3.) 2nd reminder beginning of September 2012 - mail to members


29

EHX e.V. · Erwachsenen Histiozytose X e.V.

X Hesitated to participate until recruitment had finished

Spanish HISTIO PO

√ Involvement of the Spanish HISTI PO to active the PO in Germany.


30

3.4 Hungary

All representatives of the relevant POs participated at the national kick-off meeting on the 18th April,

2012. Here they all agreed to support the project and work on the recruitment strategy. They agree

on a standard recruitment method, sending out the online invitation letters and later on reminders.

Some POs offered to support the recruitment with further promotional activities, as listed in the

table.

At the end of the Hungarian recruitment the number of responses was more than doubled (244%)

the initial expectations (relative success rate compared to the Spanish results).

Coordination:

Name of the organization


Research Centre

Centre for Public Affairs Studies Foundation (CPASF)

Translation of questionnaires, ethical approval, unit costs.

Nat. Fed. of RDs

Hungarian Federation of People with rare and congenital diseases (RIROSZ)

National Coordination

RIROSZ introduced the project to the representatives of the Hungarian Ministry at the 2nd Europlan Conference on the 17th Nov, 2011. They also organized a kick-off meeting with the representatives of the national POs on the 18th April, 2012.



CF √

PWS √

HEMO √

DMD √ The project was promoted on the Family Day and on the Rehab Week of the national PO.

EB √

FXS √

SCL √ Published an article on the project in their Newsletter (at the end of May) and also promoted the project on their website. Introduced the project on their Annual Meeting (AGM) on the 21th April, 2012.


31

MPS √ Paper recruitment was launched on their Family Day (May, 2012).

JIA − No PO in Hungary

HISTI − No PO in Hungary


32

3.5 Italy

Coordination:

Name of

organization Recruitment process Link of the publication

Research Centre

Istituto Superiore di Sanita (ISS)

The ISS managed to build a close collaboration with the POs and Associations, and they managed to involve 17 POs of the 32 relevant PO’s.

http://www.iss.it/cnmr/prog/index.php?lang=1&tipo=64&anno=2008

University Commerciale "Luigi Bocconi" (Bocconi)

http://www.unibocconi.it/wps/wcm/connect/cdr/centro_cergasen/home/research/health+economics+health+technology+assessment/research_he-hta

Nat. Fed. of RDs

Consulta Nazionale delle Malattie Rare (CONSULTA)

http://www.iss.it/cnmr/prog/index.php?lang=1&tipo=64&anno=2008

Federazione Italiana Malattie Rare (UNIAMO)

Project promotion on the UNIAMO website.

http://www.uniamo.org/it/news/news-uniamo/338-burqol-rd-il-questionario-europeo-e-on-line.html


Name of


Link of the publication

CF L.I.F.C.- Lega Italiana Fibrosi cistica

√

1 PO →Coordinated by CONSULTA/ISS. Patients' registry (overall/ email): 2010/1408 contacts

-The BURQOL-RD article was published on their website. -Inviting emails and reminders were also sent out.

http://www.fibrosicistica.it/page.php?cPath=0&id_page=9&module=News&action=view&id=525

PWS

F.A.P.W. Federazione fra le associazioni per l'aiuto sai soggetti con la sindrome di Prader Willi e le loro famiglie

√

1 PO →Coordinated by CONSULTA/ISS. Patients' registry (overall/ email): 500/250 contacts

-Inviting emails and reminders were also sent out.

HEMO

FEDEMO - Federazione delle Associazioni Emofilici ONLUS (alliance of 33 PO federeted)

√

POs →Coordinated by UNIAMO/ISS. Patients' registry (overall/ email): 550/65 contacts

-Invitational emails and reminders were also sent out. -The BURQOL-RD article was published on their website.

http://fedemo.it/progetto-di-ricerca-europeo-burqol-rd-invito-alla-partecipazione/


33

A.E.L.- Associazione emofilici del Lazio

√

http://webcache.googleusercontent.com/search?q=cache:jVpyIKImLj8J:www.aelonlus.it/+&cd=1&hl=it&ct=clnk&gl=it&client=firefox-a

DMD

Parent Project- - Genitori con figli affetti da distrofia muscolare di Duchenne e Becker

√

1 PO →Coordinated by ISS. Patients' registry (overall/ email): 567/350 contacts

EB DEBRA ITALIA ONLUS

√

1 PO →Coordinated by UNIAMO. Patients' registry (overall/ email): 200/70 contacts

-The BURQOL-RD article was published on their website.

http://www.debraitaliaonlus.org/forum/viewtopic.php?f=4&t=2451

FXS Associazione Italiana Sindrome X Fragile

√

1 PO →Coordinated by ISS. Patients' registry (overall/ email): 850/200 contacts

-The BURQOL-RD article was published on their website.

http://www.xfragile.net/scheda.asp?idprod=477&idpadrerif=39

SCL

AILS- Associazione italiana lotta alla Sclerodermia

√ 2 POs →Coordinated by ISS. Patients' registry (overall/ email): 650/40 contacts

-The BURQOL-RD article was published on their website. -350 paper formats were sent out to patients in Oct and Nov 2012.

http://www.ails.it/news/progetto-burqol-per-i-pazienti-sclerodermici.html

AS.MA.RA – Associazione malattia rara Sclerodermia ed altre malattie rare "Elisabetta Giuffre'"

√ -Invitational letters and reminders were also sent out.

MPS

A.I.MPS- Associazione italiana mucopolisaccaridosi e malattie affini

√

1 PO →Coordinated by CONSULTA. Patients' registry (overall/ email): 730/261 contacts

-Invitational emails and reminders were also sent out.

JIA

A.M.R.I- Associazione per le malattie reumatiche infantili

√

1 PO →Coordinated by UNIAMO/ISS. Patients' registry (overall/ email): 500/100 contacts

-Invitational emails and reminders were also sent out.


34

HISTI

AIRI LCH Onlus - Associazione Italiana Ricerca Istiocitosi

√ 1 PO →Coordinated by ISS.

-The BURQOL-RD article was published on their website

https://www.facebook.com/groups/184294620180/permalink/10151435222360181


35

3.6 Sweden

Coordination:

Name of the organization Participation Link of the publication

Research Centre

The Swedish Institute for Health Economics (IHE)

National Coordination

Kick-off Meeting on the 21st August, 2012

Nat. Fed. of RDs

Rare Diseases Sweden

Umbrella organisation for EB, PWS, FXS and MPS

http://www.sallsyntadiagnoser.se/


Name of

organization Partici-pation


CF The Swedish Cystic Fibrosis Association

X http://rfcf.se/

PWS National Federation of RD

√ Info-mail to members. http://www.sallsyntadiagnoser.se/

HEMO Swedish Hemophilia Society

√ Advertisement in their member paper "Gensvar".

http://www.fbis.se/se/

DMD RBU PO √ Posted on FB and PO's web-page. www.rbu.se

EB National Federation of RD

√ Info-mail to member + sub PO. http://www.sallsyntadiagnoser.se/

FXS National Federation of RD

√ Info-mail to members. http://www.sallsyntadiagnoser.se/

SCL

Rheumatism PO √ Posted on PO's web-site. https://reumatikerforbundet.org/

Reumatikerförbundet

√

Involved by FESCA. Information on FB and link to survey 10th Oct, on official web-page and FB-page the following week.

https://reumatikerforbundet.org/

MPS National Federation of RD

√ Info-mail to member + sub PO. http://www.sallsyntadiagnoser.se/


36

JIA

Unga Reumatiker √

-After the JIA adult questionnaire became available (16 Oct, 2012), internal dissemination activities were launched within the organisation and on their Facebook profile. -Reminders approx every 2 weeks. -The survey was presented on a "Child- & parent-camp" on FB. - Posted the patient information on the web page (10th Oct, 2012)

https://ungareumatiker.reumatikerforbundet.org/aktuellt/nyheter/enkat-om-barnreumatism-jia-och-systemisk-skleros/

Rheumatism PO √ Posted project promotion on their web-site.

https://reumatikerforbundet.org/

HISTI LCH √ Posted in their Facebook-group. www.histiocytos.se


37

3.7 Spain

The recruitment process in Spain was managed by the Spanish Federation of Rare Diseases’

Patient Associations (FEDER). Three of the RDs selected (CF, FXS and DMD) had their own

national federation, comprising regional patient organizations that, in some cases, were not

included in FEDER. FEDER, as strategic partner of the BURQOL-RD project, contacted 24

patient organizations (20 of whom were regional patient organizations) related to selected

RDs, except JIA given that there was no specific patient organization available in Spain for

this RD.

Despite the fact that the unified national registry of RDs is still being developed in the

Spanish Institute of Rare Diseases Research (IIER), another two project partners have

developed databases for specific RDs: FEDER and the Spanish Reference Centre for Rare

Diseases (CREER). Patients included in these databases were contacted by e-mail as in the

case of patient organizations.

Coordination:

Name of


Research Centre

FUNCIS Coordinator

Access to all questionnaires through the project Website: www.burqol-rd.eu. Promotion on the local government web site: http://www2.gobiernodecanarias.org/sanidad/scs/contenidoGenerico.jsp?idDocument=d3625932-2ae5-11e0-b0af-955d71e6f888&idCarpeta=a2f2a550-cf8e-11de-8e48-21acdc92fc68

Research Centre

IIER Associated Partner

IIER RD register. Contacted patients with one of the 10 RDs. https://registroraras.isciii.es/Comun/Inicio.aspx

Nat. Fed. of RDs

Federación Española de Enfermedades Raras (FEDER)

Recruitment Coordinator

Contact with patients associations and promotion on their website: http://www.enfermedades-raras.org/index.php?option=com_content&view=article&id=1403:burqol-resultados-de-la-participacion-en-espana&catid=1:latest-news&Itemid=247


38

Reference Centre

CREER Collaborating Partner

RD Register of CREER. Contacted patients with one of the 10 RDs. http://www.creenfermedadesraras.es/creer_01/documentacion/boletindigitalcreer/2011/news_agosto/iier_informa_agosto/iier_colabora_burqol/index.htm


Name of organization Partici-pation


CF

Federación Española de Fibrosis Quística

√

On-line recruitment through FEDER.

http://www.fibrosisquistica.org/index.php?pagina=noticias&esnoticia=360

http://fqgalicia.blogspot.com.es/2011/09/encuestas-burqol.html

Asociación Madrileña Contra la Fibrosis Quística

√ http://www.fqmadrid.org/Noticias/costes_socioeconomicos.htm

Associació Catalana de Fibrosi Quística

√

Asociación Extremeña contra la Fibrosis Quística

√

Asociación Andaluza contra la Fibrosis Quística

√

PWS

Asociación Valenciana Síndrome Prader Willi

√


Paper questionnaires

sent by mail.

Asociación Catalana para el Síndrome de Prader Willi

√

Asociación Española para el Síndrome de Prader Willi

√

http://www.prader-willi-esp.com/noticias/varios.html

http://www.praderwilli.org.es/que-hacemos/formacion-e-informacion/burqol-espana-resultados.html

Asociación del Síndrome de Prader-Willi de Andalucía

√

FXS

Federación Española del Síndrome de X Frágil

√


Asociación para la integración de personas afectadas por X-Frágil u otro TGD en Andalucía

√

Asociación del Síndrome X-Frágil de Madrid

√

Asociación Síndrome X-Frágil de Extremadura

√

Associació Catalana Síndrome X Frágil

√

HEMO

Asociación Andaluza de Hemofilia Canf Cocemfe

√ On-line recruitment through FEDER.

Asociación de Hemofilia de √


39

la Comunidad de Madrid

DMD

Federación Española de Enfermedades Neuromusculares

√


Asociación Aragonesa de Enfermedades Neuromusculares

√ http://www.asemaragon.com/noticias/75-noticias-generales/295-burqol-rd-primeros-resultados-del-proyecto-.html

Asociación de Enfermedades Neuromusculares de la Comunidad Valenciana

√

Asociación de Enfermos Neuromusculares de Castilla La Mancha

√

Asociación Ourensana de EM, ELA, Parkinson y otras Enfermedades Neurodegenerativas

√

EB Asociación Epidermolisis Bullosa de España

√


Paper questionnaires sent by mail.

SCL

Asociación Española de Esclerodermia


Paper questionnaires sent by mail.

http://www.esclerodermia.org/scleroderma/?page_id=864

Asociación de Esclerodermia de Castellón

√

JIA No specific PO X

HISTIO Asociación Española contra la Histiocitosis


http://www.histiocitosis.org/index.php?id=105&no_cache=1&sword_list[]=burqol-rd

MPS

Asociación Valenciana de Sanfilippo i altres mucopolisacaridosis

√


Asociación Española de las Mucopolisacaridosis y Síndromes Relacionados

√

Information on recruitment on their blog:

http://infompsesp.blogspot.com.es/2012/06/proyecto-burqol-rd.html

Reminder: http://mpspapas.wordpress.com/2012/06/03/burqol-rd-la-encuesta-para-mps-aun-esta-activa%E2%80%8F/


40

3.8 United Kingdom

Coordination:

Name of

organization Publication Link of the publication

Research Centre

LSE Health

Nat. Fed. of RDs

Rare Disease UK

Website of Genetic Alliance UK

http://www.geneticalliance.org.uk/projects/burqol.htm http://www.geneticalliance.org.uk/e-updates/september2012.htm

e-Newsletter September 2012

www.raredisease.org.uk/news/september2012.htm


Name of


Link of the publication

CF Cystic Fibrosis Trust

√

-At a face-to-face meeting with the National Coordinator (Mr Walker) on the 27th Nov. 2012 they agreed to look over the survey in December and take a decision on the collaboration in January. -They agreed to participate.

-Appointment via phone the 1st March, review the recruitment plan. -They sent the survey to their contacts at end of February. -They sent out the reminders at the end of April. -The survey was posted on their website, forums and Facebook. Reminder ad on Facebook in May, 2013.

https://www.facebook.com/find-friends/browser/?rpix=1#!/cftrust?fref=ts

PWS Prader-Willi Syndrome Association

√ PO agreed to participate.

-Advertisement on the PO's website in May, 2012 and in June, 2012 as well. -They distributed the survey twice among their patient members. -The PO sent round the reminders again in Sept, 2012. -Face-to-face meeting with the National Coordinator (Mrs Nicod) on the 21st January, 2013 to review the recruitment strategy.

www.pwsa.co.uk/index.php/quick-links/research/221-call-for-participation-in-the-european-research-project-burqol-rd


41

HEMO

Haemophilia Society

√

The PO agreed to participate if we made a minor modification in the questionnaire. The change was realized (Oct, 2012) and they then agreed to participate.

-Face-to-face meeting with the National Coordinator (Mrs Nicod) on the 28th January to develop the recruitment plan.

DMD

Action Duchenne

X PO refused to participate.

Muscular Dystrophy Campaign

√ PO agreed to participate. They sent out the survey in Dec, 2012.

Duchenne family support group

X PO refused to participate.

EB DEBRA √ Online registry of 300 patients.

-In mid-November they used newsletter, Facebook, twitter and their website to boost patients' motivation. -On the DEBRA Facebook page. "The BURQOL-RD project has been included in the In-Touch newsletter that is sent directly to all members. The project has already been circulated to the clinical network team."

http://www.debra.org.uk/call-for-participation-in-the-european-research-project-burqol-rd.html

-A half page publication in their magazine and Facebook due beginning or mid-February. -They sent out the invitation letters again at the same time (Feb. 2013) an email to her 300 contacts.

FXS Fragile X Society

X

They refused to participate because they did not think if the project would obtain useful information at the end of the research.

Afterwards the Spanish FXS PO got in touch with them to try, unsuccessfully, to involve them in the project.

SCL FESCA √ Involved in the project on an international level

-FESCA had contacted the Scleroderma Society who advertised the survey. -FESCA introduced the project at the AGM on the 6th April. -FESCA published the project advertisement on their website (twice during the recruitment period).


42

Raynaud's and Scleroderma Association

√ Po agreed to participate

They distributed the survey among their membership of patients three times, in May, June and Sept, 2012.

Scleroderma Society

√ The PO is involved by FESCA

Publication on their website

www.sclerodermasociety.co.uk/news/would-you-like-to-take-part-in-a-research-project

MPS Mucopolysaccharidosis Society

X

They claimed that they have “extensive knowledge of health assessments and the relevance of socio-economic evaluations. The BURQOL-RD survey is sufficiently data sensitive to do justice to its objectives and most importantly the patients and their carers.” They were concerned that the project coordination should have consulted with the MPS Society at a much earlier stage of the project.

JIA

NRAS √

The PO insisted on the adult version of the JIA questionnaire. This survey was created.

-They sent an e-bulletin to the patients on the 21th January. -The PO agreed to send out the invitation letters in Oct, 2012. -Clare suggested contacting 3 additional POs: CCAA, Scottish Network for Arthritis in Children and Arthritis Care.

Rheumatism PO

√

CCAA X Phone contact was not possible and therefore the National Coordinator (Mr Walker) emailed them in January, 2013. He got in touch with them via phone afterwards and forwarded them the links and adverts of the survey.

As far as we are informed there were no actions taken on their side.

Scottish Network for Arthritis in Children – (SNAC)

X

Arthritis Care

X

HISTIO Histiocytosis Reseach Trust

√

The Spanish HISTIO PO has contacted them to request their active participation. PO agreed to participate.

-They have distributed the survey three times among their patient membership, namely their 'circle of friends' in May, June and Sept, 2012. -The survey wasn't placed on the website as there was no convenient section for it. -Advertisement on their Facebook profile in January, 2013.


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4. Conclusions

The dissemination activities undertaken within the BURQOL-RD project focused on three main

objectives: to make all interested parties aware of the project and its objectives; to promote the

recruitment of patients affected by the selected RDs; and to disseminate the main results on socio-

economic burden and HRQL in each participating country. Therefore, the target groups toward

which the dissemination activities were addressed included experts in the field of RDs and health

economics, patients with RDs and their caregivers, patient associations and federations of both the

selected and other RDs, health policy makers, other EU or national research projects, and the general

public.

The Consortium made every effort to choose adequate dissemination channels for each target

group, using a wide range of media, from presentations at numerous national and international

events, to publications in different media - scientific, non-peer-reviewed or self-edited – and an on-

line presence on web sites, newsletters and social media of all stakeholders. It is planned to publish

the main results on costs and health-related quality of life from all eight countries in an international

peer-reviewed journal of health economics, and other publications will also be produced at a local

level and/or focusing on different variables.

The national health authorities and health policy makers within the EU represent an important target

group. The Consortium has kept them informed directly during the course of the project through e-

mails resuming the latest developments and achievements, and indirectly through presentations in

RD schools for health authorities, workshops and conferences in the field of RDs, as well as through

established contacts with national federations and alliances for RDs. However, the most important

outcome for this target group will be the results on socio-economic burden of RDs and possible

recommendations at a national level, which will be delivered to the interested parties directly by e-

mail and other channels, such as self-edited publications, workshops and the aforementioned

scientific publications.

A large chapter in the dissemination activities was taken up by the promotion of the recruitment of

patients with one of the selected RDs, as this was a crucial aspect of the project in order to ensure

that a relevant sample of patients was obtained for the analysis of socio-economic burden of their

diseases. Despite the low frequency of RDs, this study succeeded in recruiting a significant number

of patients through the cooperation of national federations and local patient organizations in each

country, and using the on-line tools for gathering data directly from patients and their caregivers. It


44

should be pointed out that empowerment of patients and patient organisations was one of the main

aims of the Council Recommendation (2009/C151/02). The present study shows that patient

organisations can participate in equivalent conditions with researchers and academics health

economists, being able to get closer to the patients and offering a unique perspective for the

interpretation of data.

The information on the burden and HRQOL consequences of RDs in different European countries

should help policy makers to evaluate the current situation of patients with RDs in these countries,

and using the same instruments in the future, to measure the impact of new policies, interventions,

treatments and diagnostic techniques. Likewise, patient associations and federations should use this

information to add weight to the presentation of their requirements towards health policy makers.

For the scientific community, the results that emerge from this project should stimulate future

research in the field of RDs and allow them to be compared with the data from other diseases.

Finally, all the dissemination activities, past and future, will raise the awareness and literacy of the

general public in Europe towards RDs.

report on dissemination activities filegrant agreement no. 2009 12 04 3 1. dissemination strategy...

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