national plans for rare diseases - europa...core funding 4 additional national conferences in...

Report – CNA Meeting, 29/30 October 2012

Organiser: Anja Helm Chair: Yann le Cam 22 participants from 16 National RD Alliances in 15 countries met in Paris for a 1.5 day workshop (list of participants) to discuss the following topics.

National Plans for Rare Diseases Contacts: Valentina Bottarelli, Ariane Weinman 1) Overview of National Plans – where we stand (tour de table) Each alliance (NA) shortly presented the National Plan situation in their country. There is one common problem that most NAs are facing: the lack of funding. The only country that does have a Plan and funding for it in place is France, but there is a problem with access to off label drugs which are not reimbursed anymore. The Europlan conferences have helped in countries where they took place to get different stakeholders to work together, draft strategies and in general advance towards a National Plan. 2) Guidance to organise EUROPLAN II national conferences

Presentation available on www.eurordis.org/content/national-alliances-rare-diseases

EUROPLAN II is part of a broader picture: The EUCERD Joint Action on Rare Diseases (EJA): March 2012 – August 2015 Within this EJA, as a continuation of EUROPLAN I, EURORDIS will support and coordinate 19 National Conferences on RDs to be organised by National Alliances/ patient groups from

20113212_D02-00_OTH_EN_PS.pdf B.1.d. Outreach to POs - Annex 1 Report CNA Workshop October -

http://www.eurordis.org/content/national-alliances-rare-diseases



EU. One additional EU country is being recruited. EURORDIS will also support with its own core funding 4 additional National Conferences in Russia, Georgia, Ukraine and Serbia.

Countries organising a 1st EUROPLAN Conference are: Belgium, Cyprus, Finland, Luxembourg, Portugal, Slovakia, Georgia, Russia, Ukraine, Serbia. Countries organising a 2nd EUROPLAN Conference are: Croatia, Denmark, France, Greece, Hungary, Italy, Ireland, Netherlands, Poland, Romania, Spain, Sweden, United Kingdom. 10 Advisors have been assigned the following countries: Avril Daly Ireland Christel Nourissier France Dorica Dan Hungary, Romania, Slovakia Lene Jensen Belgium, Denmark, Portugal Lily Cannon Cyprus, Luxembourg Maria Gardsäter Finland, Sweden Oleg Kvlividze Georgia, Russia, Ukraine Simona Bellagambi Greece, Italy, Spain Stephen Nutt The Netherlands, United Kingdom Vlasta Zmazek Croatia, Poland, Serbia The advisors work with the EURORDIS staff to develop common format and content guidelines for all EUROPLAN conferences; Act as a liaison between NAs and EURORDIS staff; and advise one or two National Alliances in addition to their own NA in preparing the EUROPLAN National Conference.

EURORDIS is producing a set of tools to support NAs in the organisation of EUROPLAN Conferences including

o Common Conference Format; o Content guidelines reflecting the thematic structure of the EU main documents (Council

Recommendation, EUROPLAN Recommendations and Indicators, etc.); o Guidelines for Chairs and Rapporteurs; o Presentations for the thematic Workshops aligned with the main European documents.

The Common Format for national conference has been presented, as well as the Content Guidelines for the 6 thematic workshops of each conference :

1. Methodology and Governance of a National Plan 2. Definition and Inventorying of RD + Information and Training on RD 3. Research on RD 4. Care - Centres of Expertise and European Reference Networks 5. Orphan Medicinal Products 6. Specialised Social Services for Rare Diseases

Based on the Common Conference Format and the Content Guidelines, each conference organiser with the support of their Advisors will establish a conference programme that will be then discussed with EURORDIS.

The complete toolkit can be found here: http://www.eurordis.org/europlan-support Europlan 2 means to continue to support the momentum across Member States for National Plans, which should be implemented by 2013. In countries where a National Plan has already been adopted, the conferences will help assess the plan in place and to prepare for a next plan.


http://www.eurordis.org/europlan-support


National initiatives to support the 116 number application for RD help

lines Presentation available on www.eurordis.org/content/national-alliances-rare-diseases

Contact: François Houÿez EURORDIS, on behalf of the European Network of RD Help Lines, has asked the European Commission, DG Connect, to reserve a 116 number for RD help lines. If it is accepted, citizens from all Member States will have one single number to call wherever they are in Europe any time they need RD information, whether they are travelling or in their home country. Rare Disease Help Lines are an important part of National Plans for Rare Diseases. The proposal to create a 116 number for help lines is supported by the health programme of the European Commission (cf Commission Communication & Council Recommendation) National Alliances are invited to advocate at national level, as nowadays the European Commission requests 14 MS to support the establishment of a 116 number. So far, the following countries are supporting the 116: France, Italy, Portugal, Romania and Spain. 9 more MS are therefore needed to support the proposal. To advocate for the 116 number, NA can make sure that the creation or development of national help lines are included in the National Plan. The national conferences can be a good moment to advocate for RD help lines and the 116 number.

Rare Disease Day 2013 Presentation available on www.eurordis.org/content/national-alliances-rare-diseases Info Pack available on: www.eurordis.org/content/national-alliances-rare-diseases Contact: Paloma Tejada The theme of Rare Disease Day 2013 is solidarity. The slogan 2013 is: Rare Disorders without Borders Of course, this slogan, which sounds great in English, can be adapted in the national language if the direct translation doesn’t sound good or doesn’t make sense. The message that we want to convey is: Fighting diseases which affect only a few people in each country and for which expertise is scarce and scattered requires cross-border cooperation.







The common features amongst National Alliances and at the international level will be the “Joining hands” activity and the official video that EURORDIS is currently producing with an Italian filmmaker who has made a film documentary about a rare disease (XP). It will be a mix of real filming with patients and stop-motion animation. We will have approx. 2 min and 30" version for TV use. The casting was organised thanks to Simona Bellagambi (from the Italian NA UNIAMO). The official video will be promoted via email blasts, the RDD website, our members and partners websites, RDD social media and via YouTube. NAs are invited to organise photo shoots in their countries, ideally in front of a recognisable landmark and to upload it (before or on the day), on http://www.rarediseaseday.org/article/joining-hands-around-world. You can also send it with a comment to [email protected] A digital awareness campaign powered by a Facebook application will also encourage anyone across the world to share their picture joining hands. The digital campaign will feature a short video clip with real patients joining hands to encourage others to do the same and share the message via FB. The video clip is being produced free of charge by a group of students from the University of Porto in Portugal. The photos uploaded will be registered into an interactive map that will be displayed on the website. This will give a visual representation of the movement of solidarity with rare disease patients throughout the world. EURORDIS will launch the 2013 version of http://www.rarediseaseday.org/ in November. Participants will be able to download material (Info Pack, Logo, Banner, Flyer, E-mail signature). The poster will be available beginning of December in pdf and photoshop versions for NAs to adapt as needed. NAs are requested to fill in their Country Pages as soon as they can announce their events and to report back to EURORDIS, on the website via the country pages and also via the e-mail [email protected] before and after the event by sending short highlights, press clippings, photos, videos and any other relevant information to show the outcomes of the campaign at local and national level. EURORDIS has been approached by a publishing company called Media Planet, which has ran rare disease supplements for NAs in the UK, Canada and the US. They, and other similar companies that ran similar operations, are interested in approaching patient organisation to supply them with content and sometimes to put them in touch with potential advertisers from the pharma and biotech industry. A list of Media Planet contacts per country was distributed at the meeting for those NAs that would like to pursue this partnership further and ran a rare disease supplement in a big newspaper in their country on Feb 28. In addition, EURORDIS contacted a paper called Metro that is distributed in most European cities free of charge at metro stations. Running a Rare Disease Day banner and/or editorial has a cost that varies depending on country and circulation. A list of prices and contacts per country was also distributed at the meeting. EURORDIS will organise its yearly advocacy Rare Disease Day event in Brussels. In 2013, the event will be a public Hearing that will take place at the European Parliament on February 26, hosted by MEP Antoynia Parvanova, the rapporteur of the EU Directive on Transparency that will be voted the next day. This Directive means to accelerate the process to get orphan drugs on the market and to speed up decision-making on pricing & reimbursement. A small working group of volunteers is in charge of the strategy of the Disease Day. Current members are: Mirjam Mann, ACHSE, Germany, Claudia Delgado, FEDER, Spain, Simona Bellagambi, UNIAMO, Italy, Mary Dunkle, NORD, USA, Marie Roinet-Tournay, Alliance Maladies Rares and Avril Daly, GRDO, Ireland


http://www.rarediseaseday.org/article/joining-hands-around-world

http://www.rarediseaseday.org/

mailto:[email protected]


More volunteers are very welcome to join this working group and are invited to inform Lara Chappell by e-mail to [email protected]. Lara will be replacing Paloma during her maternity leave in 2013. NAs have been distributed the Info Pack of RDD 2013 and can send in their comments and suggestions until Nov 7. After that it will be considered approved by the CNA and uploaded on to rarediseaseday.org

Working together within Rare Connect Presentation available on www.eurordis.org/content/national-alliances-rare-diseases

Contact: Denis Costello, Rob Pleticha RareConnect www.rareconnect.org responds to rare disease patients’ need for information and connection. A joint initiative of EURORDIS and NORD, the National Organization for Rare Disorders, RareConnect was introduced as a pilot in 2009. Today, 32 disease-specific communities are now active on the site RareConnect is endorsed by more than 200 patient organisations and visited by approximately 16,000 unique visitors from 132 countries each month. At www.rareconnect.org, rare disease patients and their caregivers share their stories, discuss common issues, find information vetted by patient organisations, and post or learn about new events and articles related to their disease. The site is published in and translated by humans among five languages: English, French, German, Italian and Spanish. Each disease-specific community is a secure environment, moderated by trusted patient representatives, where patients can connect, share their experiences, and learn about their disease. Activities are organized around three sections: Understand, Meet and Learn. NAs are invited to promote this tool and to endorse it possibly with putting their logo on the website. More information: Denis Costello, Senior Web Communications Manager and RareConnect Project Leader (EURORDIS) [email protected] Robert Pleticha, Online Communities Manager [email protected], or tel. 34.6.71.88.22.18.



http://www.rareconnect.org/en


http://www.rareconnect.org/



tel:%2B34671882218


Promoting the European Rare Disease blog http://www.rarediseaseblogs.net/ Contact: Denis Costello

RareDiseaseBlogs.Net is a joint EURORDIS/NORD project whose aim it is to bring together key international opinion leaders in the fields of rare diseases & orphan drugs in order to promote debate and foster interaction with members of the public.

Bloggers are drawn from a broad range of stakeholders and interests the rare disease community including patient advocates, rare disease national and international patient federations, regulators, public policy decision makers, national health authorities and research.

NAs are invited to participate in the debates on the blog and to promote it on their websites.

Information on Mutual Exchange Programme “Learning from Each

Other” Guidelines, Application & report form available on www.eurordis.org/content/national-alliances-rare-diseases Contact: Anja Helm In September 2012 EURORDIS launched a new Exchange Program for National Alliances in the form of Short Term Fellowships to enable more direct exchange, transfer of knowledge and collaboration between one National Alliance with another and to offer means of mutual support and capacity building. The programme is designed to provide short term, quick and flexible financial support to enhance the current efforts of the National Alliance, it shouldn’t

be considered as a source of significant or recurrent financial support.

Financial support is limited to a total of 600 € per Fellowship and a maximum of 2 fellowship per year and per National Alliance.

This program will be continued in 2013, the relevant documents will be sent out to all NAs at the beginning of 2013.

Information on EPIRARE Survey Presentation available on www.eurordis.org/content/national-alliances-rare-diseases

Link to survey in English: https://www.surveymonkey.com/s/3KBY96V For other languages go to: http://www.eurordis.org/news/eurordis-conducts-survey-rare-disease-registries Contact: Monica Ensini There is robust evidence that when a registry exists for a certain rare disease: •quality of care and life expectancy for patients improves dramatically


http://www.rarediseaseblogs.net/

http://www.eurordis.org/

http://www.rarediseases.org/




https://www.surveymonkey.com/s/3KBY96V


•higher level of networking between medical experts •more research activities on-going •more therapies under development The EPIRARE project objectives are: To elaborate propositions for EU policies on RD patient registries To propose the framework of a future EU registry platform/hub for RD (legal basis,

governance framework, option for sustainability, etc…). To explore the definition of a minimum data set common for all RD

The EPIRARE survey conducted by EURORDIS is specifically targeted to patients in order to gather their perspectives and expectations on RD patient registries. The survey is available in the following languages: English, French, German, Italian, Portuguese, Spanish, Greek (GR), Czech (CZ) and Romanian (RO), and will soon be available in Danish (DK) and Hungarian (HU). As of today: more than 3000 patients have accessed the survey. The preliminary data show that: •Patients expect registries to also fulfil health/social services planning for RD •There seems to be quite a dominant diffidence towards industry •Patients express interest and engagement with the core registry governance issues •Patients mainly expect the EC to provide long term funding for RD registries •Patients wish for a uniform EU legislation and for a EU reference platform/hub for RD registries EURODIS, NORD and CORD, have recently agreed of 10 Key Principles for Rare Disease Patient Registries that can be found http://www.eurordis.org/en/content/eurordis-nord-cord-release-joint-declaration-10-key-principles-rare-disease-patient-registri

Creation of an Interest Group for translational research* *Translational research is scientific research that facilitates the translation of findings from basic science to practical applications that enhance human health and well-being. (From bench to bedside)

Contact: John Dart John Dart, COO Debra International and EURORIDS Deputy General Secretary proposed the creation of an Interest Group for translational research. Many of the European Federations and National Alliances already have experience in research projects and are reaching the point of translation of potential new therapies from the laboratory to the clinic; it would be very interesting to pool that knowledge across the groups and diseases to discuss ways of approaching and promoting Rare Disease research, particularly around preparation for clinical trials, intellectual property issues, strategic planning and attracting and working with external partners. EURORDIS will create a mailing list for this group that the representatives of Federations and Alliances can sign up to and use to mutualise and spread knowledge. A specific e-mail will be sent shortly to all groups.


http://www.epirare.eu/


Specialised social services Presentation available on www.eurordis.org/content/national-alliances-rare-diseases

Contact: Raquel Castro Across EU there is a common need to integrate Rare Diseases into social policies and to guarantee PLWRD access adequate Specialised Social Services. The EUCERD joint Action (EJA; 2012-2015) includes a Work Package on Specialised Social Services addressing the 3 following main subjects: 1) Mapping of services 2) Training of staff and volunteers 3) Integration of RD into Social Policies Specialised Social Services for RD include:

Respite Care Services Therapeutic Recreation Programmes Adapted Housing and other habilitation services Resource Centres for Rare Diseases

A literature review paper has been developed to facilitate advocacy actions for the promotion of Specialised Social Services for PLWRD, to be made available in December 2012. Currently, services are being mapped in different countries and within the different categories, in order to prepare the European map of Specialised Social Services for PLWRD. The EURORDIS website section on Specialised Social Services – including the map of services in Europe, facts/guidelines and testimonies – is to be made available in December 2013 with on-going update. Two country visits have been performed in 2012: Frambu Resource Centre, Norway and Agrenska Respite Care Service, Sweden. Data collection of these visits will be disseminated in 2013 in the format of “case study”. A workshop on “Guiding Principles for Specialised Social Services” will take place on the 6-7th December, in Romania, involving EUCERD representatives, Specialised Social Services, Europlan Advisors, some academia and other relevant authorities. The outcome of the workshop discussion shall be disseminated in 2013 in the form of report.




Access to treatments in the context of the crisis Contact: Yann le Cam More information: EUCERD Recommendation for a CAVOMP information flow Equitable and timely access to market-authorised orphan medicinal products is an issue for thousands of rare disease patients and their families across the European Union, as reported by many patients and patient groups as well as robustly shown in the EURORDIS Surveys on Patients Access to Orphan Drugs. Large disparities in access exist between and even within the European Member State countries. Increasing cooperation between EU-level authorities and the Member States (MS) has been identified as a means of improving access to Orphan Medicinal Products (OMP) and reducing inequities. EURORDIS has promoted with several Position Papers the concept of a mechanism to improve and evaluate the Clinical Added Value of Orphan Drugs (CAVOD) together with our EURORDIS Round Table of Companies and the industry platform of EuropaBio-EBE-EFPIA Task Force. The auditing firm Ernst & Young was mandated by the European Commission to identify and assess the possible options for the creation of a mechanism for the exchange of knowledge between the MS and European authorities on the scientific assessment of the relative effectiveness of orphan medicines and issued a report in December 2011. Consequently, the European Commission asked the European Union Committee of Experts of Rare Diseases (EUCERD) to make recommendations in the area of facilitating the exchange of scientific information on orphan medicinal products that would support the clinical assessment processes undertaken by the MS. This “EUCERD Recommendation on the Clinical Added Value of Orphan Medicinal Products Information Flow (acronym: CAVOMP) to the European Union and Member States” has been adopted by the EUCERD in June 2012 by consensus of all its members (not unanimity because Austria abstained). We are now working on its implementation from 2013. But it is of major importance than the key measures adopted for Member States be introduced in the current MSs policies or upcoming national plans.

Also, EURORDIS represent its members in the EU Corporate Social Responsibility Forum piloted by EC DG Enterprise for the Working Group “ Mechanism of Coordinated Access to


http://www.eucerd.eu/?post_type=document&p=1446

http://www.eurordis.org/content/access-orphan-drugs

http://www.eucerd.eu/


Orphan Medicinal Products” (acronym: MOCA). After two years of work, the final report will be released in December 2012. The main measures, of great importance and usefulness for NAs, are: first, the adoption of a Common European Transparent Value Framework for exchange of information between Member States on the value of an orphan drug to have national “well informed” decisions based this European exchanged; second, pilots from 2013 of negotiation of prices of orphan drugs coordinated at European level based on this Value and on Volume (the targeted population of patients to be treated) as well as on commitment for post-marketing studies on long term safety, efficacy and effectiveness; third, joint procurement contract through which several Member States could coordinate their purchase of orphan drugs, particularly relevant for ultra-orphan diseases and for small or medium size countries. Besides, EURORDIS is active on supporting its members when issues are arising in their country such as national measures to reduce prices or access due to the crisis (ex: Germany or Greece or Spain or Poland or France), or HTA review of value of orphan drugs (ex: Netherlands CVZ or Sweden TLV), or on crisis situation (ex: access to Enzyme Replacement Therapy in Lithuania). We will continue to do so increasingly; François Houyez new position on “Information & Access to treatments” has been created to address this growing issues as well as to expand our work on compassionate use, off-label use of medicines, patients reported outcomes etc and making the link with our webservices and helplines. EURORDIS will continue to inform patient representatives of the developments and will issue a EURORDIS Policy Fact Sheet on Improving Access to Orphan Medicinal Products. The issue will as well be discussed at the EURORDIS Membership Meeting (EMM) 2012 Dubrovnik. Yann invites all participants to look at the relevant documents they have previously received and to send their information on access to medication problems in their country to the CNA/CEF. The EURORDIS blog can as well be used to exchange views or alert on specific problems.

Results of the off label use survey Presentation available on www.eurordis.org/content/national-alliances-rare-diseases

Contacts: François Houÿez, Rob Camp Off label use of medicines is very frequent amongst patients with rare diseases. Orphan medicines with a specific indication with a rare condition are in fact the exception. The objective of the Off-label use (OL) study launched by EURORDIS was to:

- Document patients’ experience with OL use - Learn about the information patients receive - Create database of off-label uses in rare

diseases - Explore how patients handle Adverse Drug

Reactions (ADRs) ADRs with OL use - Define future actions on OL use in rare diseases

The Off label use survey, consisting in a questionnaire available on the internet in 5 languages during summer 2012, has been developed by the DITA Task Force. So far, 255 responses have been analysed, the process is ongoing.




Cross Border Health Care and European Reference Networks Contact: Yann le Cam, Flaminia Macchia The national transposition of the CBHC Directive is now in the hands of the national Ministries. The directive, in article 13, specifically mentions Rare Diseases and the specific issues in Health Care at EU level. Patient organisations can impact he process, via the EUCERD and National Alliances, notably on the aspects of mobility and patient’s rights. The EUCERD will advise MS to involve patient organisations in the transposition process. Currently, the working groups responsible for the national transposition do not have to involve patient organisations. It is important that patient representatives get involved at the national level. A workshop at the EMM 2013 Dubrovnik will be dedicated to this subject. Hopefully Ms Nathalie Chaze of the EC will participate in this workshop. She is currently going to each MS to meet the people in charge of the national transposition Most CNA participants do not know who sits in their national working group; It is important that they identify these people and try to get in contact with them to make their voice heard. The list of national representatives in the EUCERD can be found on: http://ec.europa.eu/health/rare_diseases/docs/list_members_eucerd_en.pdf M. Margetidis of the EC underlines that each MS will have to put in place a contact point that will give answers to all questions concerning prior authorisation, reimbursement etc The question of whether patients should travel to experts or experts to patients is discussed. The Directive says clearly that expertise should travel first, but there can of course be cases where patients should travel to an expert centre if needed, in an organised way and not on an ad hoc basis as before the directive. It is important too that bio samples travel to the right laboratory for diagnosis, biobanking etc. European Reference Networks (ERN) will gather the knowledge and expertise. The development of centres of expertise and European Reference Networks in the field of rare diseases is encouraged in the Council Recommendation on an Action in the Field of Rare Diseases and CBHC Directive as a means of organising care for the thousands of rare conditions affecting patients across Europe. In order to share knowledge and expertise more efficiently, the EUCERD recommendations seek to introduce harmonious standards of quality practices by elaborating criteria for the Member States to incorporate into their process to designate centres of expertise, especially in the context of national plans/strategies for rare diseases which the Council has urged all Member States to elaborate by 2013.

Next CNA Meeting The 15th workshop of the Council of National Alliances will take place May 30 in Dubrovnik, Croatia, as a satellite meeting of the EURORDIS Membership Meeting EMM 2013 Dubrovnik (30 May-1st June)

This workshop has been funded with support from the European Union’s Health Programme and by the Association Française contre les Myopathies – Téléthon (AFM). This material only reflects the views of the author, and funders cannot be held responsible for any use which may be made of the information contained herein.


http://ec.europa.eu/health/rare_diseases/docs/list_members_eucerd_en.pdf


http://www.eurordis.org/content/membership-meetings

Council of National Alliances (December 2012)

Full Members1 Belgium RaDiOrg2 Denmark Rare Disorders Denmark (Sjaeldne Diagnoser)3 France Alliance Maladies Rares4 Germany ACHSE Allianz Chronischer seltener Erkrankungen e.V.5 Greece Greek Alliance for Rare Disease6 Hungary Rare Diseases Hungary7 Ireland Genetic and Rare Disorders Organisation (GRDO)8 Italy UNIAMO ‐ Federazione Italiana Malattie Rare9 Netherlands Vereniging Samenwerkende Ouder en Patiëntenorganisaties

10 Romania Rare Diseases Romania11 Spain Federación Española de Enfermedades Raras12 Sweden The Swedish Association of Rare Disorders (Riksförbundet Sällsynta diagnoser)13 UK Genetic Alliance (Rare Diseases UK)14 Switzerland Proraris

Observers15 Austria Pro Rare Austria16 Bulgaria National Alliance of People with Rare Diseases (NAPRD)17 Croatia Croatian Alliance for Rare Diseases18 Cyprus Cyprus Alliance for RD19 Czech Republic Czech National Association for Rare Diseases (CAVO)*20 Finland HARSO ‐ Organisation for RD and Disabilities in Finland*21 Georgia Georgian Foundation for Genetic and Rare Diseases22 Luxembourg ALAN23 Portugal Federaçao Portuguesa de Doenças Raras FEDRA24 Portugal Aliança Portuguesa de Associaçiones das Doenças Raras25 Russia National Association '"GENETICA26 Russia Russian Patients Union ‐ RD Working group27 Slovakia Slovak Alliance of Rare Diseases*

National Alliances outside Europe (observers in the CNA)28 Canada CORD29 USA NORD

National Alliances outside Europe (not part of the CNA)31 New Zealand NZORD31 Taiwan TFRD32 Malaysia MALAYSIAN RARE DISORDERS SOCIETY

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Organisations Contact surname emailAKU* Nick Sireau [email protected] EUROPE FEDERATION E.V. Alan Heywood‐Jones [email protected] Europe* Kay Parkinson [email protected] Europe Rosa SANCHEZ DE VEGA [email protected] FIBROSIS EUROPE Karleen DE RIJCKE [email protected] EUROPE John DART [email protected] EUROPEAN ALLIANCE OF NEUROMUSCULAR DISORDERS ASSOCIATIONS

Tadej Korosec [email protected]

EFAPH Jean Daniel Kahn [email protected] ATAXIA ‐ EUROPEAN FEDERATION OF HEREDITARY Balthasar SCHAAP [email protected] HSP Fina Mateo [email protected] ASSOCIATION OF PATIENT ORGANISATIONS OF SARCOIDOSIS (EPOS)

Hanns‐Peter Faber [email protected]

EUROPEAN CHROMOSOME 11 NETWORK Caroline VAN HEESEWIJK [email protected] CONGENITAL HEART DISEASE ORGANISATION Maya Campbell [email protected] Dysmelia Reference Information Centre Geoff Adams‐Spink geoff.adams‐[email protected] FEDERATION OF ASSOCIATIONS OF PATIENTS WITH Françoise Courtois [email protected]

EUROPEAN GAUCHER ALLIANCE Anne‐Grethe LAURIDSEN anne‐[email protected] HAEMOPHILIA CONSORTIUM Jo Eerens [email protected] HUNTINGTON ASSOCIATION Beatrice DE SCHEPPER [email protected] Myasthenia Gravis Association (EUMGA) Nadia RADULESCU [email protected] Network for Ichthyosis ‐ eni Geske WEHR [email protected] NETWORK FOR RESEARCH ON ALTERNATING Tsveta SCHYNS [email protected] Polio Union John R McFarlane [email protected] Society for Phenylketonuria Tobias‐S. Hagedorn tobias‐hagedorn@t‐online.deEuropean Waldenström Macroglobulinemia Network Marlies Oom [email protected] INTERNATIONAL NETWORK Anna Meriluoto [email protected] Euro‐HSP Dorthe Lykke [email protected] OF EUROPEAN SCLERODERMA ASSOCIATIONS Catherine Van den Bosch [email protected] ‐ FEDERATION OF EUROPEAN WILLIAMS SYNDROME Camelia LAZAR [email protected] X Europe Jörg Richstein [email protected] INTERNATIONAL PATIENT ORGANIZATION FOR C1 INHIBITOR DEFICIENCIES

Henrik BOYSEN [email protected]

International Mito Patients Elja van der Veer [email protected] ‐ INTERNATIONAL PATIENT ORGANIZATION FOR PRIMARY IMMUNODEFICIENCIES

Johan Prévot [email protected]

MULTINATIONAL INTERSTITIAL CYSTITIS ASSOCIATION (MICA) Elke Hufnagl elke.hufnagl@ica‐austria.atMyeloma Patients Europe Eric Low [email protected] Assocaition* Angelika Klucken [email protected] foundation Marieke van Meel [email protected] ‐ OSTEOGENEIS IMPERFECTA FEDERATION EUROPE Ute WALLENTIN [email protected] HYPERTENSION ASSOCIATION EUROPE (PHA Gerald Fischer [email protected] International* Rainald von Gizycki [email protected] SYNDROME EUROPE Martine Gaudy [email protected] Europe ‐ European Society for Paediatric Oncology Edel Fitzgerald edel.fitzgerald@ecco‐org.euSMA EUROPE Inge SCHWERSENZ info@initiative‐sma.deTHALASSAEMIA INTERNATIONAL FEDERATION (TIF) Androulla ELEFTHERIOU [email protected]

* European Federations in the making, not yet incorporated

Council of European Federations (December 2012)

20113212_D02-00_OTH_EN_PS.pdf B.1.e. Support EU Network of EFs - Annex 1 List of members of the CEF - Page 1

1 Report CEF Workshop, 30 + 31 October 2012

Report

5th Workshop of the

Council of European Federations Paris, 30 & 31 October 2012

Representatives of 19 European Rare Disease Federations (participants list attached) met in Paris on October 30 and 31. For the first time, part of the CEF meeting was organised jointly with the Council of National Alliances, to discuss topics of common interest and learn from each other. October 31st a training on the Promotion of Research took place.

This workshop was organised by Anja Helm and chaired by Yann le Cam, EURORDIS.

CEF meeting Paris 2012

20113212_D02-00_OTH_EN_PS.pdf B.1.e. Support EU Network of EFs - Annex 2 Report of the CEF - Page 1


Creation of an Interest Group for translational research* *Translational research is scientific research that facilitates the translation of findings from basic science to practical applications that enhance human health and well-being. (From bench to bedside)

Contact: John Dart John Dart, COO Debra International and EURORIDS Deputy General Secretary proposed the creation of an Interest Group for translational research. Many of the European Federations and National Alliances already have experience in research projects and are reaching the point of translation of potential new therapies from the laboratory to the clinic; it would be very interesting to pool that knowledge across the groups and diseases to discuss ways of approaching and promoting Rare Disease research, particularly around preparation for clinical trials, intellectual property issues, strategic planning and attracting and working with external partners. EURORDIS will create a mailing list for this group that the representatives of Federations and Alliances can sign up to and use to mutualise and spread knowledge. A specific e-mail will be sent shortly to all groups.

Specialised social services Presentation available on: http://www.eurordis.org/content/european-disease-specific-federations

Contact: Raquel Castro Across EU there is a common need to integrate Rare Diseases into social policies and to garantee PLWRD access adequate Specialised Social Services. The EUCERD joint Action (EJA; 2012-2015) includes a Work Package on Specialised Social Services addressing the 3 following main subjects: 1) Mapping of services 2) Training of staff and volunteers 3) Integration of RD into Social Policies Specialised Social Services for RD include:

Respite Care Services Therapeutic Recreation Programmes Adapted Housing and other habilitation services Resource Centers for Rare Diseases

A literature review paper has been developed to facilitate advocacy actions for the promotion of Specialised Social Services for PLWRD, to be made available in December 2012. Currently, services are being mapped in different countries and within the different categories, in order to prepare the European map of Specialised Social Services for PLWRD. The EURORDIS website section on Specialised Social Services – including the map of services in Europe, facts/guidelines and testimonies – is to be made available in December 2013 with ongoing update. Two country visits have been performed in 2012: Frambu Resource Centre, Norway and Agrenska Respite Care Service, Sweden. Data collection of these visits will be disseminated in 2013 in the format of “case study”. A workshop on “Guiding Principles for Specialised Social Services” will take place on the 6-7th December, in Romania, involving EUCERD representatives, Specialised Social Services, Europlan Advisors, some academia and other relevant authorities. The outcome of the workshop discussion shall be disseminated in 2013 in the form of report.


http://www.eurordis.org/content/european-disease-specific-federations


Access to treatments in the context of the crisis Contact: Yann le Cam More information: EUCERD Recommendation for a CAVOMP information flow Equitable and timely access to market-authorised orphan medicinal products is an issue for thousands of rare disease patients and their families across the European Union, as reported by many patients and patient groups as well as robustly shown in the EURORDIS Surveys on Patients Access to Orphan Drugs. Large disparities in access exist between and even within the European Member State countries. Increasing cooperation between EU-level authorities and the Member States (MS) has been identified as a means of improving access to Orphan Medicinal Products (OMP) and reducing inequities. EURORDIS has promoted with several Position Papers the concept of a mechanism to improve and evaluate the Clinical Added Value of Orphan Drugs (CAVOD) together with our EURORDIS Round Table of Companies and the industry platform of EuropaBio-EBE-EFPIA Task Force. The auditing firm Ernst & Young was mandated by the European Commission to identify and assess the possible options for the creation of a mechanism for the exchange of knowledge between the MS and European authorities on the scientific assessment of the relative effectiveness of orphan medicines and issued a report in December 2011. Consequently, the European Commission asked the European Union Committee of Experts of Rare Diseases (EUCERD) to make recommendations in the area of facilitating the exchange of scientific information on orphan medicinal products that would support the clinical assessment processes undertaken by the MS. This “EUCERD Recommendation on the Clinical Added Value of Orphan Medicinal Products Information Flow (acronym: CAVOMP) to the European Union and Member States” has been adopted by the EUCERD in June 2012 by consensus of all its members (not unanimity because Austria abstained). We are now working on its implementation from 2013. But it is of major importance than the key measures adopted for Member States be introduced in the current MSs policies or upcoming national plans.



http://www.eurordis.org/content/access-orphan-drugs

http://www.eucerd.eu/


Also, EURORDIS represent its members in the EU Corporate Social Responsibility Forum piloted by EC DG Enterprise for the Working Group “ Mechanism of Coordinated Access to Orphan Medicinal Products” (acronym: MOCA). After two years of work, the final report will be released in December 2012. The main measures, of great importance and usefulness for NAs, are: first, the adoption of a Common European Transparent Value Framework for exchange of information between Member States on the value of an orphan drug to have national “well informed” decisions based this European exchanged; second, pilots from 2013 of negotiation of prices of orphan drugs coordinated at European level based on this Value and on Volume (the targeted population of patients to be treated) as well as on commitment for post-marketing studies on long term safety, efficacy and effectiveness; third, joint procurement contract through which several Member States could coordinate their purchase of orphan drugs, particularly relevant for ultra-orphan diseases and for small or medium size countries. Besides, EURORDIS is active on supporting its members when issues are arising in their country such as national measures to reduce prices or access due to the crisis (ex: Germany or Greece or Spain or Poland or France), or HTA review of value of orphan drugs (ex: Netherlands CVZ or Sweden TLV), or on crisis situation (ex: access to Enzyme Replacement Therapy in Lithuania). We will continue to do so increasingly; François Houyez new position on “Information & Access to treatments” has been created to address this growing issues as well as to expand our work on compassionate use, off-label use of medicines, patients reported outcomes etc and making the link with our webservices and helplines. EURORDIS will continue to inform patient representatives of the developments and will issue a EURORDIS Policy Fact Sheet on Improving Access to Orphan Medicinal Products. The issue will as well be discussed at the EURORDIS Membership Meeting (EMM) 2012 Dubrovnik. Yann invites all participants to look at the relevant documents they have previously received and to send their information on access to medication problems in their country to the CNA/CEF. The EURORDIS blog can as well be used to exchange views or alert on specific problems.

Results of the off label use survey Presentation available on: http://www.eurordis.org/content/european-disease-specific-federations

Contacts: François Houÿez, Rob Camp Off label use of medicines is very frequent amongst patients with rare diseases. Orphan medicines with a specific indication with a rare condition are in fact the exception. The objective of the Off-label use (OL) study launched by EURORDIS was to:

- Document patients’ experience with OL use - Learn about the information patients receive - Create database of off-label uses in rare

diseases - Explore how patients handle Adverse Drug

Reactions (ADRs) ADRs with OL use - Define future actions on OL use in rare diseases

The Off label use survey, consisting in a questionnaire available on the internet in 5 languages during summer 2012, has been developed by the DITA Task Force. So far, 255 responses have been analysed, the process is ongoing.

Cross Border Health Care and European Reference Networks




Contact: Yann le Cam, Flaminia Macchia The national transposition of the CBHC Directive is now in the hands of the national Ministries. The directive, in article 13, specifically mentions Rare Diseases and the specific issues in Health Care at EU level. Patient organisations can impact he process, via the EUCERD and National Alliances, notably on the aspects of mobility and patient’s rights. The EUCERD will advise MS to involve patient organisations in the transposition process. Currently, the working groups responsible for the national transposition do not have to involve patient organisations. It is important that patient representatives get involved at the national level. A workshop at the EMM 2013 Dubrovnik will be dedicated to this subject. Hopefully Ms Nathalie Chaze of the EC will participate in this workshop. She is currently going to each MS to meet the people in charge of the national transposition Most CNA participants do not know who sits in their national working group; It is important that they identify these people and try to get in contact with them to make their voice heard. The list of national representatives in the EUCERD can be found on: http://ec.europa.eu/health/rare_diseases/docs/list_members_eucerd_en.pdf M. Margetidis of the EC underlines that each MS will have to put in place a contact point that will give answers to all questions concerning prior authorisation, reimbursement etc The question of whether patients should travel to experts or experts to patients is discussed. The Directive says clearly that expertise should travel first, but there can of course be cases where patients should travel to an expert centre if needed, in an organised way and not on an ad hoc basis as before the directive. It is important too that bio samples travel to the right laboratory for diagnosis, biobanking etc. European Reference Networks (ERN) will gather the knowledge and expertise. The development of centres of expertise and European Reference Networks in the field of rare diseases is encouraged in the Council Recommendation on an Action in the Field of Rare Diseases and CBHC Directive as a means of organising care for the thousands of rare conditions affecting patients across Europe. In order to share knowledge and expertise more efficiently, the EUCERD recommendations seek to introduce harmonious standards of quality practices by elaborating criteria for the Member States to incorporate into their process to designate centres of expertise, especially in the context of national plans/strategies for rare diseases which the Council has urged all Member States to elaborate by 2013.

Support to European RD Federations 2013 Terms of References 2012 available on http://www.eurordis.org/content/european-disease-specific-federations Contact: Anja Helm In September 012 EURORDIS launched a new Exchange Program for European Federation in the form of Short Term Fellowships to enable more direct exchange, transfer of knowledge and collaboration between one Federation with another and to offer means of mutual support and capacity building: European Federations’ Exchange Program- Learning from Each Other All European Federations member of EURORDIS can apply for this support. The program covers the travel expenses (main travel and hotel) of one representative of a European Federation to visit another Federation for a short to collaborate on a specific pre-defined topic. Financial support is limited to a total of 600 € per Fellowship and a maximum of 2 fellowship per year and per Federation. This program will be continued in 2013. The other support program, entitled “Support to European Federations” will be continued as well. Once the EURORDIS Board of Directors has approved the budget 2013, all member federations will receive the relevant documents and application form. Whereas the Support to EF aims at helping federations to organize meetings ( board meetings, conference, meetings with researchers, network meetings…) the Learning from each other program means to enhance the exchange between individual federations, who can benefit greatly from each other’s experience in order to pool and mutualize knowledge and best practices.


http://ec.europa.eu/health/rare_diseases/docs/list_members_eucerd_en.pdf





RareConnect for European RD Federations Presentation available on http://www.eurordis.org/content/european-disease-specific-federations Contacts: Denis Costello, Rob Pleticha, Marta Campadal

RareConnect www.rareconnect.org responds to rare disease patients’ need for information and connection. A joint initiative of EURORDIS and NORD, the National Organization for Rare Disorders, RareConnect was introduced as a pilot in 2009. Today, 32 disease-specific communities are now active on the site RareConnect is endorsed by more than 200 patient organisations and visited by approximately 16,000 unique visitors from 132 countries each month. At www.rareconnect.org, rare disease patients and their caregivers share their stories, discuss common issues, find information vetted by patient organisations, and post or learn about new events and articles related to their disease. The site is published in and translated by humans among five languages: English, French, German, Italian and Spanish. Each disease-specific community is a secure environment, moderated by trusted patient representatives, where patients can connect, share their experiences, and learn about their disease. Activities are organized around three sections: Understand, Meet and Learn. Rare Connect communities are not only a place for patients and caregivers to exchange, but can be as well a shared project that acts as a catalyst for starting and maintaining a vibrant European federation. Some European federations have already successfully launched their community, such as: EDRIC/Dysnet, HSP Europe, Waldenstrom Europe, AKU and others. One of the questions that comes back often is the added value of Rare connect versus Facebook:

Human translation Moderator support and training Ongoing technical improvements Non profit model Allows for disease conversations and Facebook conversations to be separate 3 full time Community Managers Your conversations and stories are there to stay

According to representatives who already have an active community, there is huge added value as well compared to national websites, RareConnect acts like an extension of the national website, the translations allowing for discussions across Europe or the world.

October 31st: CEF training: "Research coordination & promotion"

Most European Federations have been or are actively involved in research activities, but only a few (Debra International, SIOPE, CF Europe) have or are participating in EU funded projects, be it DG SANCO or DG Research. All federations are very interested in projects funded by the EC but writing proposals is difficult. A few have tried and failed.

Angelika Klucken of Hoffnungsbaum, Germany and Kay Parkinson, Alstrom UK, are participating in EU funded projects, with very different experiences.

TIRCON - Collaborative Research for a very rare disease as a global approach under FP7

Experiences of the German NBIA patient organization "Hoffnungsbaum e.V." as TIRCON Partner, Angelika Klucken Presentation available on http://www.eurordis.org/content/european-disease-specific-federations



http://www.rareconnect.org/

www.rareconnect.org



Hoffnungsbaum is the German NBIA organisation, which provides support to families, information and networking between patients, clinicians and researchers, notably via the bi-annual family conferences. Hoffnungsbaum supports NBIA research financially and by national and international networking. TIRCON (Treat Iron Related Childhood Onset Neurodegeneration) is a research consortium comprising 13 partners from 8 countries, funded by the EU under FP7. 2 NBIA patient organisations are partners in TIRCON: Hoffnungsbaum e.V. (Germany) and the NBIA Disorders Association (USA). TIRCON’s concept is to bring together the existing outstanding but scattered expertise in NBIA research and care through Europe and internationally. The project aims to set up a structured network to improve diagnosis and treatment of NBIA. The scientific workpackages include a patient-registry, biobank, biomarker-studies, a clinical trial and further preclinical studies. The other TIRCON- workpackages are ethics, management and dissemination. Hoffnungsbaum helped, to bring researchers from Europe and the USA together, which was the start of the TIRCON project, born from a spirit of cooperation. In TIRCON, both patient organisations are mainly in charge of the Work Package “Dissemination” with Hoffnungsbaum e.V. as WP-leader. Hoffnungsbaum is member of the Scientific Steering Committee. TIRCON Dissemination tasks (not only of the patient groups but of all TIRCON-partners) include:

Networking and communication plan to raise knowledge and awareness of PKAN and other NBIA

- dissemination strategy - set-up of TIRCON website www.tircon.eu with patient information in

several languages, - development of target-group specific information packages - networking with key stakeholders in health care systems and Rare

Diseases policy - the use of the advocacies’ usual media like websites, newsletters, leaflets - development of new services like a healthcare notebook for patient families

to track medical history “doctor’s telegram” as online newsletter and patient-friendly care-guidelines

for PKAN, scientifically elaborated by TIRCON-partner OHSU NBIA Network in Europe and USA to harmonize care standards - development of a clinical NBIA network, currently the TIRCON clinical

centers - development of an international network of NBIA patient advocacies, the

NBIA ALLIANCE Dissemination of research results - Publications (scientific and non-scientific journals), Website - International scientific conferences (e.g. neurology, neuropediatrics, human

genetics ) Teaching PKAN/NBIA - Specific educational training of the early-career scientists and clinicians - Creation of an international research prize for early-career scientists

Hoffnungsbaum and NBIA Disorders Association USA are as well partner in 3 other Work Packages: Clinical Trial, patient registry and Ethics. The experience as partner in an EU project has been positive, the integration of patient organisations as partners a success because they can contribute specific competences like networking abilities, expertise with PR and act as a bridge between scientists and patients. It is important that the patients‘ perspective is brought into science. To make the partnership work, patient organisations need to stick to the rules of the Consortium Agreement and respect Responsibility Confidentiality, Reliability


www.tircon.eu%20%20


John Dart, Kay Parkinson

The EURO-WABB Project (DG Health), an instrument to increase knowledge, improve the

lives of affected people through better management, and to develop clinical research

Kay Parkinson, Alström Europe & Partner EU WABB Presentation available on http://www.eurordis.org/content/european-disease-specific-federations Alström Syndrome UK was created by Kay Parkinson in 1998 with three key aims:

to help people with Alström Syndrome to provide support for them, their carers and the professionals who are working with them

to raise awareness amongst both the public and medical professions of Alström Syndrome to raise funds to promote research into Alström Syndrome

One of the key achievements of Alström UK is the development of patient led NHS funded multi disciplinary clinic for Alström Syndrome. EURO-WABB is an EU Rare Diseases Registry for Wolfram syndrome, Alström syndrome, Bardet-Biedl syndrome and other rare diabetes syndromes. The EURO-WABB Project is a collaboration of doctors, scientists and patient support groups from all over Europe. It is supported by the EU Directorate General for Health and Consumers (DG-SANCO) via its Executive Agency for Health and Consumers. The overall aim is for this register to be a key instrument to increase knowledge on these rare diseases, improve the lives of affected people through better management, and to develop clinical research. Alström Syndrome UK was invited to join the project, on EURORDIS recommendation, to lead the work package Dissemination. There was no patient input when the project was drafted. The Work Package Dissemination includes:

Identifying and engaging with stakeholders Awareness Raising Associate Partner & Member of the Project Management Committee contributing to the delivery of Euro-WABB Leading analysis of the learning and information needs of patients and families Contributing to the development of guidelines

The Plans for continuation are:

– EU health providers: network of experts in WABB diseases – Industry: new indications for existing drugs – Disease specific charities




Future developments: - Alström Europe and later possibly European Wolfram and BBS Federations There are many challenges for EURO WABB as the conditions are all extremely rare; and there are no patient organisations for these diseases across Europe, apart from the newly formed Alström Europe. Recruitment, therefore of patients to participate in the registries is proving difficult for some of the conditions in the group. Medical consultants with databases of these diseases are often reluctant to share their information, having collected the information over many years; some degree of “ownership” is seen and quite a few are reluctant to join the EURO WABB project. As the conditions are already rare this means that for a condition like Alström Syndrome for example, there are currently three separate databases in place. Patient groups are usually more likely to share data as patient benefit is paramount for them- unfortunately two of the conditions involved in EURO WABB do not have patient groups ready to form European Associations. It is difficult when one country which has evolved specialist care for very rare conditions tries to expand this knowledge EU wide before consulting all patient groups involved. There is no doubt patients EU wide could and should benefit from the advances in one country, however, reaching these patients before the patient group networks are in place via medical professionals is proving to be a barrier because of the reasons stated above. EURORDIS advice from the start for EU projects which include very rare conditions could lead to better patient outcomes.

---- Wrap up: It is important that patient organisations be included from the start in research projects, whether DG Research of DG Health funded. It’s equally important that the patient organisations are included as equal partners and with an adequate budget. The upcoming EU Framework Programme for Research and Innovation is called Horizon 2020. It will represent the financial instrument implementing the Innovation Union, a Europe 2020 flagship initiative aimed at securing Europe's global competitiveness. Running from 2014 to 2020 with an €80 billion budget, the EU’s new programme for research and innovation is part of the drive to create new growth and jobs in Europe. Patient organisations can be involved in other Work Packages than Dissemination. EURORDIS for example only gets involved in projects where participation in the Steering Committee is assured. The patient organisations need to make sure that the project they are invited to participate in fits into their strategy, that the partners involved are the right ones and that the PO can actually add real value to the project. It is therefore very important that the PO sees the full outline of the project. EURORDIS will organise capacity building workshops for patient organisations to increase their knowledge of EU funded research projects. The CEF meeting in November 2013 could be an occasion to have this workshop. Patient advocates need to get involved in clinical work and to increase their knowledge by participating in, for example, the EURORDIS Summer school and/or specific webinars that are organised on the topic.

-----

This workshop has been funded with support from the European Union’s Health Programme and by the Association Française contre les Myopathies – Téléthon (AFM). This material only reflects the views of the author, and funders cannot be held responsible for any use which may be made of the information contained herein.


http://ec.europa.eu/research/horizon2020/index_en.cfm?pg=h2020

http://ec.europa.eu/research/innovation-union/index_en.cfm

http://ec.europa.eu/research/innovation-union/index_en.cfm

http://ec.europa.eu/europe2020/index_en.htm

Max Real Type of meeting Dates Place Nbr

support support Participants

Alstrom Europe 2 200 2 200 Networking meeting 26/27 Sept Strasbourg 15

Aniridia Europe 2 200 2 200 Conference 27/28 Oct Germany 50

Cystic Fibrosis Europe 2 200 2 200 Conference 5/6 June Dublin 50

EDRIC 2 200 2 200 Conference 22/23 Sep Budapest 40

EFAPH 1 200 1 200 General Assembly 31 Aug Rennes 30

EGA 2 200 2 200 Conference 16/18 Nov Franklfurt 40

ENI 1 200 1 166 Networking meeting 26/27 May Brussels 15

EuMGA 2 200 2 200 Networking meeting 26 May Brussels 20

Eur. Fragile X Network 2 200 2 200 Travel allowances 3/4 Nov London 15/18

Euro HSP 2 200 1 700 Board meeting 26/27 May Brussels 14

European Chromosome 11 Networ 600 600 Board meeting 30‐mars Germany 10

FEDAIRG 2 200 2 116 Conference 24/27 May Paris 40

FESCA 1 200 1 061 Conference 6‐9 June Berlin 3

OIFE 2 200 2 200 Conference 20/22 Sep Lisbon 100

TSC Europe 1 200 1 200 Board/conference 6/9 Sept Naples 10

Total 27 400 26 643

EURORDIS Support to European Federations 2012

20113212_D02-00_OTH_EN_PS.pdf B.1.e. Support EU Network of EFs - Annex 3 Beneficiaries & amount for the Support Programme - Page 1

from European federations who received Support for their meetings in 2012

The board of EDRIC is greatly indebted to EURORDIS for its on-going support of our organisation and, in particular, for its support of its first - arguably its most important - members’ meeting. The Malmö event represents something of a quantum leap in terms of our organisational development. Network activity has seen a marked increase and the board itself has been expanded from four to five and then seven members. Plans are already well under way for an experts’ conference in 2013 which will encourage the formation of a parallel experts forum for limb difference - something that is an essential pillar of EDRIC’s long-term vision. Geoff Adams-Spink EDRIC Chairman

November, 2012

Dear Anja and Yann, dear all, it is my great pleasure to be able to tell you that we had a very successful 3rd meeting of the European Fragile X Network on the weekend of November 3 and 4 in London. We were able to welcome one new association to our network (Finland), making it 14 associations in 13 countries that now make up EFXN. Present at the London meeting were 11 associations from 10 countries We are on a very good way to strengthening EFXN. The meeting again showed that there is a strong need for cooperation, mutual support and information exchange. The Italian Association has already started to prepare the next meeting, which will take place in Rome in October 2013. The participants are very thankful for the support by Eurordis. EFXN would not exist without Eurordis' help. With all my best regards, Jörg Richstein ------------------------------------------------------ Dr. Jörg Richstein Chairman Interessengemeinschaft Fragiles-X e.V. (Fragile X Association of Germany) 2nd Vice Chairman of the German Alliance for Rare Diseases (ACHSE e.V.) +49-641-6304043 [email protected] [email protected] http://www.frax.de

Dear Anja, dear EURORDIS board and staff,

20113212_D02-00_OTH_EN_PS.pdf B.1.e. Support EU Network of EFs - Annex 4 Testimonies on Support Programme - Page 1



http://www.frax.de/

on behalf of the board and all members of the European Chromosome 11 Network I want to thank YOU ALL from EURORDIS and the Steering Commitee very hearty for the granted seed money for our "7th International Conference of the European Chromosome 11 Network" in the framework of the 2nd edition of the Pilot Project "Support to European Rare Disease Federations". Especially I want to mention that the uncomplicated procedure has been appreciated very much! That´s exactly what we need. Thank you very much!!! I´m looking forward to seeing you in Brussels. Best wishes and warmest regards, Arne Eiwen __________________________________________________________________________ European Chromosome 11 Network e.V. www.chromosome11.eu Mrs. Arne Eiwen / President Rembrandtstr. 17/1 De - 75446 Wiernsheim Tel.: +49 (0)7044 - 920 865 Fax: +49 (0)7044 - 906 082 Email: [email protected]

For us (Aniridia Europe), Eurordis grant has been and is still essential to move forward, in organise activities in order to expand knowledge on aniridia, stimulate research on this rare diseases and empower patients and patients organisations and this is only doable by bringing expert doctors and patients together. But for us, a new born European Federation, putting this into practice is difficult without your support, because we do not have any funds yet. Than, I highly appreciate your support. Without it, we could not go ahead and, patients with aniridia NEED this, THEY NEED HOPE, like other rare diseases that have no accurate information, no treatment and no centre or hospital unit of expertise to receive an accurate and updated palliative treatment, even more difficult to have it reimbursed when we have to travel far away for an available surgery. I am sure you can understand and I hope you can support us. Thank you very much. Rosa Sánchez de Vega Aniridia Europe President [email protected] tel. 0034 646718142

This is great news indeed. Our heartfelt thanks to Eurordis for enabling us to invite more people to this important networking and capacity building activity! Kind regards, Karleen De Rijcke Cystic Fibrosis Europe President


imap://anja%2Ehelm%40eurordis%[email protected]:993/fetch%3EUID%3E/CEF/Support%20applications%3E156

imap://anja%2Ehelm%40eurordis%[email protected]:993/fetch%3EUID%3E/CEF/Support%20applications%3E156


Very many thanks to EURORDIS for your support of 2200 Euros for our Alstrom Europe meeting 26/27th September, hosted by Professor Helene Dollfus You are the first organisation Alstrom Europe has received a grant from...lets hope this is the start of EU wide funding. We would like to use your patronage and I have attached our Agenda which shows how this would be used. I look forward to being able to report a very successful meeting, new collaborations and development of new research possibilities, I am as you will see presenting on “A parents perspective” which I hope will motivate all present to work collaboratively to improve the lives and longevity of Alstrom patients. Thank you once again EURORDIS for your support. With very best wishes Kay Parkinson Chief Executive Officer Alstrom Syndrome UK 01803 524238 Mob: 07985243834


European Network of Rare Disease Help Lines Meeting Report

Paris, Rare Diseases Platform

8 June 2012

20113212_D02-00_OTH_EN_PS.pdf B.2.a. EU Network of RD Help Lines - Annex 1 Report of Meeting 06_2012 - Page 1

EU R O PEA N H EL P L I NES F O R RA R E DISE ASE S NE T W O RK MEE TI N G

1. Situation of the network as of June 2012

1.1. One new help line joined the network recently: the National Help Line for

Croatia presented by Vlasta Zmazek. The help line receives calls/emails mostly

for social support more than diagnosis. A frequent problem is single mothers

who have huge difficulties taking care of their affected child.

AFM MyoInfo is now referred to as AFM-Téléthon.

The network is composed of one full member, seven conditional members, and

three observers. The network is also in contact with five other help lines:

Full members Conditional members Observers Applicants / others

AFM Téléthon ANSAPERT ENERCA ICRDOD MRIS Linha Rara Telefono Verde Coordinating Centre – Veneto Region

SIO-FEDER Romanian MG NORO Help Line

Croatian Help Line RadioOrg Switzerland (Orphanet) Sweden Denmark

1.2. All letters of agreement have been signed.

2. Feedback from the 4th Caller Profile Analysis 2011 (CPA)

2.1. Results: the results of the CPA campaign 2011 were presented (see presentation

and report).

2.2. Review of items and fields to be completed

The following suggestions were made for the next CPA:

PA RTI CI PA N TS

Nadia Radulescu, M. Gravis, Romania

Tuy Nga Brignol, AFM-Téléthon, France

Andreia Bernardo, Linha Rara, Portugal

Nuno Branco, Linha Rara, Portugal

Monica Mazzucato, Coordinating Centre Veneto, Italy

Paula Cuibus (for Dorica Dan), NORO Help Line, Romania

Marial del Mar, Enerca, Spain

Vlasta Zmazek, Croatian help line, Croatia

Jonathan Ventura, RadioOrg, Belgium

Estrella Mayoral, SIO-Feder, Spain

Sara Perez, ANSAPeRT, Spain

Agata Polizzi, Telefono Verde, Italy

Thomas Heuyer, Maladies Rares Info Services, France

François Houÿez, Eurordis

Robert Pleticha, Eurordis

Raquel Castro, Eurordis

Excused

ICRDOD, Bulgaria

POI N TS DI S C USS E D



– For the duration of calls: to keep minutes as the unit for calls of less than 60 minutes, and

to create a field for calls/emails of more than 60 minutes.

– To add a new category for Orpha Codes/diseases: undiagnosed

– To add three entries for the Purpose of Call question

o questions on treatments and drugs

o questions on reimbursement issues

o questions on awareness campaigns and events

2.3. Launch of next CPA 2012: it was decided to renew the CPA in 2012, and to keep the annual

frequency.

2.4. Others: it was proposed to submit an article to a scientific public health journal, as for help lines

for tobacco quitting.

3. Launch of the 116 number reservation

3.1. The 116 number for social services and the consequences for participating help lines were

presented and discussed. Five help lines, who had committed to implement the 116 number,

should the Commission accept to reserve such a number, confirmed their interest. One concern

is the process, once the decision will be made. National authorities are responsible for selecting

the entity that will be responsible for the 116 for rare diseases, at the national level. Of course

we will advocate for the members of the network to be selected, as they all have demonstrated

their capacity to work together and to exchange information already. However this is not our

decision (see www. erg.eu.in):

Member State

Authority Acronym Web site

Belgium Institut Belge des services Postaux et de

Télécommunications BIPT http://www.ibpt.be

Bulgaria Communications Regulation Commission CRC http://www.crc.bg

Croatia Hrvatska agencija za poštu i elektroničke

komunikacije HAKOM http://www.hakom.hr

Denmark National IT and Telecom Agency NTA http://www.itst.dk

France Autorité de Régulation des

Communications Electroniques et des Postes

ARCEP http://www.art-telecom.fr

Italy Autorità per le Garanzie nelle

Comunicazioni AGCOM http://www.agcom.it

Portugal National Communications Authority

Autoridade Nacional de Comunicações ANACOM www.anacom.pt

Romania National Regulatory Authority for

Communications ANCOM

Spain Comisión del Mercado de las

Telecomunicaciones CMT http://www.cmt.es

Sweden National Post and Telecom Agency PTS http://www.pts.se

Switzerland Office fédéral de la

Communication OFCOM http://www.bakom.admin.ch

POINTS DISCUSSED


http://www.ibpt.be/

http://www.crc.bg/

http://www.hakom.hr/

http://www.itst.dk/

http://www.art-telecom.fr/

http://www.agcom.it/

http://www.anacom.pt/

http://www.cmt.es/

http://www.pts.se/

http://www.bakom.admin.ch/


4. Information on the pharmacovigilance legislation and a possible role for help lines

See the presentation of the DIOD project and of self-reporting of adverse drug reactions by

patients

Some help lines / patients’ organisations have already been invited by their national competent

authorities to work on reporting tools. This is the case for example for Rarissimas in Portugal,

with Inframed.

Our proposal is summarised below:

Target: rare diseases help lines professional respondents or volunteers

Objective: to train them on the European pharmacovigilance system, in particular about the

new tools for patients to report suspected adverse drug reactions (online forms created by

national competent authorities, or printed forms)

Rational: to ensure high quality of these reports, it is important all data fields are completed,

with minimum errors or missing data. Help lines can assist patients when they fill in their forms

(selection of the right medicine name, dose, other medicines, background medical information

and co-morbidities...)

Format: a 5 day course

Day 1: European pharmaco-vigilance system

Role of actors (EMA, NCA, industry, HCP…)

Day 2: Eudravigilance database of suspected ADRs, European form for self-reporting

How to code the ADR

How to select the medicines(s)

How to document on the patient’s condition(s) and lifestyle

Day 3: where to find validated information on the internet?

Focus on medicines: EMA websites, other databases on medicines, Merck Manual…

Day 4: how to record and evaluate calls

How to code rare diseases

Evaluation tools

How to use Rapsodyonline tools

Day 5: simulations and local NCA tools

Partners:

EMA (has already expressed its interest) and PRAC

Agemed (to be contacted) and other national competent authorities

European Network of Rare Diseases Help Lines (has already expressed its interest)

Fundacio Doctor Robert

Coordinating Centre Veneto Region - University of Padova

Eurordis

Class: 20 to 40 participants

Funding: Grundtvig programme Life Long Learning

All help lines agreed this was a great proposal and mandated Eurordis to make it happen.

5. AOB

5.1. Joint Action Social Services : Raquel Castro presented her work in the frame on the Joint Action

for Rare Diseases, particularly the work package on social guidelines and social services.

5.2. Online Patient Communities Rob Pleticha presented the Online Patient Communities as a

service to link very isolated patients.



Communi ty Contact: EURORDIS

Plateforme Maladies Rares

96 rue Didot

75014 Paris - France

Tel: + 331 56 53 52 10

Fax: + 331 56 53 52 15

www.eurordis.org

T HE E U R OP EA N

NE T W O RK OF

HEL P L I NES

FO R R A RE

DIS EAS ES

The European

Network of Help

Lines for Rare

Diseases is aiming at

better serving the

needs of callers by

sharing resources,

best practices and

common tools. It was

created in Sept.

2006 and is

coordinated by

Eurordis. The

network aims at

increasing

awareness,

efficiency, and best

practice standards

for its members.

For More

Information, please

contact:

François Houÿez

Plateforme Maladies

Rares

96 rue Didot

75014 Paris - France

Tel: + 331 56 53 52 18

Fax: + 331 56 53 52 15

www.eurordis.org

POINTS DISCUSSED

6. Feedback on Quality criteria for web sites – guidelines

David Oziel developed quality criteria to select web sites. The help lines are consulted on the appropriateness, completeness and relevance of the criteria. Comments are expected before the end of July 2012.

7. Upcoming meetings

We will try to organise a second face to face meeting in 2012, October or November, to work on the training programme for pharmacovigilance.


EUROPEAN NETWORK OF RARE DISEASES HELP LINES -CALLER PROFILE ANALYSIS 2012-

20113212_D02-00_OTH_EN_PS.pdf B.2.a. EU Network of RD Help Lines - Annex 2 Caller Profile Analysis Report - Page 1

European Network of Help Lines for Rare Diseases Caller Profile Analysis 2012-v2

1. CALLER PROFILE ANALYSIS NOVEMBER 2012 ............................................................................................... 2

2. GENERAL INFORMATION ON THE 12 HELP LINES THAT PARTICIPATED IN CPA 2012 ..................................... 6

3. NUMBER OF ENQUIRIES BY POPULATION SIZE ............................................................................................. 7

4. AGE OF ENQUIRERS AND PATIENTS, GENDER OF ENQUIRERS ...................................................................... 8

5. CATEGORY OF ENQUIRERS ........................................................................................................................... 9

6. TYPE OF CONTACT .......................................................................................................................................12

7. HELP LINE AWARENESS ...............................................................................................................................13

8. PURPOSE OF ENQUIRY AND RESPONSE GIVEN ............................................................................................14

9. DURATION OF THE ENQUIRY .......................................................................................................................15

10. SELF-EVALUATION OF THE QUALITY OF THE RESPONSE GIVEN BY THE RESPONDENTS ................................17

11. DISEASES ENQUIRED ...................................................................................................................................18

12. ENQUIRIES FOR PATIENTS LOOKING FOR A “PATIENT LIKE ME“ ..................................................................20

ACKNOWLEDGEMENTS ........................................................................................................................................21

1. Caller Profile Analysis November 2012

ne of the goals of the European Network of Rare Diseases is to allow member help lines to exchange data across Europe. One of the criteria that members are asked to adhere to before becoming a member of the network is to record core call information in a

uniform manner.

This makes it possible to compare data and exchange information amongst the network members. The initiative is particularly important considering the scarcity of available information on rare diseases.

This is the fourth time the CPA exercise has been attempted. Although there have been improvements in the quality of data there is still a lot of work to be done by the participating help lines in order to ensure that it will be possible to make activity reports for the network as a whole. These activity reports will serve as an advocacy tool when convincing policy makers to allocate financial resources to information services.

As part of the network membership criteria, help lines are asked to meet certain criteria; one of these is to ensure that they are using the Orphanet coding system when recording call information.

O



This year the following 12 help lines took part in the exercise.

France – AFM Téléthon

Spain - SIO Feder

Spain - European Network for Rare and Congenital Anaemias (ENERCA)

Portugal – Linha Rara

Bulgaria - Information Centre for Rare Diseases and Orphan Drugs (ICRDOD)

Italy - Università di Padova, Coordinating Centre for Rare Diseases, Veneto Region

Romania - Romanian Myasthenia Gravis National Information Centre

Romania - Romanian National Alliance for Rare Disease (NORO Help Line)

Italy – Telefono Verde Malattie Rare

Croatia – National Help Line Zagreb

France - Maladies Rares Info Services (MRIS)

Denmark - Sjældne Handicap As help lines not only respond to calls but also to emails, we define as enquirer any person who calls, sends an email, writes a letter of visit the information service. The following data were collected: the category of the enquirer, his/her age, the type of contact, the reason for calling, the patient’s age group, the enquirer’s gender, the response given, the time needed to respond, the region were the enquirer resides... The information was gathered by each help line over the month of November 2012. It is based on the analysis of a total of 1676 calls, emails, letters or visits. Enquiries were mostly about specific diseases. The enquiry discussed a disease in 1337 calls or emails out of 1676. A total of 474 distinct rare diseases were discussed. The data is a summary of a more detailed CPA report which details each participating help lines performance in the CPA. This report then allows the coordinator to give the help lines advice on what changes they need to make to the way they record data at their help line. Data were received from 12 help lines (AFM-Téléthon, Feder SIO, NORO Help Line, Linha Rara, ICRDOD, Romanian Myasthenia Gravis Info Centre, ENERCA, Coordinating Centre for Rare Diseases-Veneto Region, Telefono Verde Malattie Rare, National Help line Zagreb, Maladies Rare Info Services and Sjældne Handicap, Denmark):



Table 1: Participation of help lines in the Caller Profile Analysis since 2008

Help Line Country

2008 2009 2011 2012

Number of calls

Use of OrphaCodes

Number of calls

Use of OrphaCodes

Number of calls

Use of OrphaCodes

Number of calls

Use of OrphaCodes

SIO-FEDER Spain 154 No 239 No 163 No 203 Yes

CSH (Sjældne Handicap)

Denmark 49 No 72 No - - 17 No

Maladies Rares Info Services

France 335 No 495 No 458 No 389 No

National Information Centre for Metabolic Diseases (Climb)

United Kingdom

1251 No - - - - - -

Swedish Information

Centre for Rare Diseases

Sweden - - - - - - - -

AFM-Téléthon France 239 No 130 Yes 257 Yes 254 Yes

Uniamo Italy - - 10 Yes - - - -

Linha Rara Portugal - - 75 No 164 Yes 196 Yes

NORO Romania - - 29 No 52 Yes 90 Yes

RadioOrg Belgium - - 10 Yes - - - -

ICRDOD Bulgaria - - - - 24 Yes 17 Yes

Myasthenia Gravis

Romania - - - - 25 Yes 28 Yes

ENERCA Spain/EU - - 3 No 3 Yes

Telefono Verde Italy - - - - 239 Yes 170 Yes

National Help Line

Croatia - - - - 12 No 15 No

Coordinating Centre Veneto

Italy - - - - 342 Yes 294 Yes

Total 2028 0/5 1060 3/8 1739 7/11 1676 9/12



The following help lines did not participate in the Caller Profile Analysis in 20121:

Spain - Association National Syndrome de Apert: was invited to participate but with no reply

National Information Centre on Metabolic Disorders, Climb, United Kingdom: in fact this organisation decided not to be a network member anymore

Swedish Information Centre for Rare Diseases, Sweden: since 2008, SICRD has not been authorised to share information with other organisations like our network

RadioOrg, Belgium: RadioOrg has suspended its help line

UNIAMO, Italy: UNIAMO has not applied to become a network member

Figure 1: location of the 11 help lines that participated in the Caller Profile Analysis 2012



2. General information on the 12 help lines that participated in CPA 2012

Table 2: characteristics of the help lines in 2012

Help Line Creation year Number of

enquiries in 11/2012

Number of respondents

% fields completed

Overall satisfaction

AFM-Téléthon 2001 254 16 100 8.79

SIO-Feder 2001 203 6 76.9 ND

ENERCA 2002 3 2 92.3 9.33

ICRDOD 2004 17 2 92.3 8.88

Linha Rara 2008 196 3 100 9.13

NORO help line

2008 90 1 100 9.61

Myasthenia Gravis

2006 28 2 100 9.29

Coordinating Centre Veneto

2002 294 6 100 8.77

Telefono Verde

2008 170 3 92.3 ND

National Help Line Croatia

In creation 15 3 92.3 9.4

Maladies Rare Info Services

2001 389 4 84.6 ND

Sjældne Handicap

2007 17 3 84.6 9.06

Total 1676 51 92.9 8.9

All together:

#helplines # calls # respondents

12 1676

51

#calls/respondent

32,9

#calls/help line

163,8

Table 3: in November 2012, 12 help lines received 1676 enquiries. 51 respondents replied, for an average of 32.9

replies/respondent. Large variability amongts help lines.



Of note, 10/12 help lines are now using the Orpha codes created by Orphanet/WHO for the classification of rare diseases. This is a major improvment since the last Caller Profile Analysis 2009-2010 where 4/8 help lines had implemented these codes. The table 4 below indicates which help lines have been coding diseases using Orpha codes:

Orphacode

Enerca Yes

SIO-Feder Yes

ICRDOD Yes

Linha Raras Yes

Myasthenia Romania Yes

NORO Yes

AFM-Téléthon Yes

CC Veneto Region Yes

Telefono Verde Yes

Croatian help line No

MRIS Yes

Sjældne Handicap No

Table 4: help lines that are using the OrphaCodes for rare diseases in November 2012

3. Number of enquiries by population size

In total the population served by the 12 help lines represented 222 millions European citizens. The 1676 enquiries received represented 7.56 enquiries per million inhabitants, and this varied by country as shown in figure 2.

Figure 2: Number of enquiries by population size. Demographics are from Eurostat 2012.



4. Age of enquirers and patients, gender of enquirers

Another progress since 2009 is the clarification for the age groups: in 2009, some help lines collected the age of the enquirer, while other collected the age of the patient. In 2012, most help lines are now collecting both the age of the patient and of the enquirer.

Figure 3: age of the patients in 2012 (1028 data available)

Figure 4: Adults and children among patients in 2012 (1028 data available)

Figure 5: age of enquirers in 2012 (701 data available)

Most of enquirers were adults (16% were young adults, 61% adults from 30 to 50, and 23% more than 50). As regards the enquirer’s gender, the same distribution among men and women was observed in 2012 and in 2011, with a larger number of enquiries made by women.



When the enquirer was a relative of the patient (parent, relative, partner or child), the enquirer was more often a woman :

5. Category of enquirers

The enquirers dit no differ in 2012 compared to 2011 in terms of who they were. Figure 8: category of enquirers in 2012.

Figure 6: Men and women among enquirers in 2012

Figure 7: Gender of the enquirer according to the relation with the patient (relative or patient)



The diversity in help lines respective audiences is illustrated below: for each help line, the different types of enquirers are shown.



6. Type of contact

A majority of enquiries were made by telephone in 2012, as shown below:

Figure 9: 59% of enquiries were made by telephone in 2012 (62% in 2011)

Of note, this was the same distribution as in 2011 and 2009.

Figure 10: Some help lines operates almost

exclusively by telephone, others manage emails

also.



By age group, only in the 20-29 years age category did enquirers use email/web as much as telephone. Older age groups tend to call more often than to send emails:

Figure 11: distribution of type of contact by age groups (727 data available)

7. Help Line awareness In 2009, most of enquirers heard about the help line on internet. In 2011, 35% of enquirers heard about help lines via health care professionals.

Figure 12: 27% of enquirers were informed about the help line via internet and 24% by

healthcare professionals in 2012



8. Purpose of enquiry and response given

The purpose of contact in 2012 was very not different from 2011. Request for information on the disease remained the main purpose, and information on centres of expertise and/or experts was the second reason for contacting a help line (several reasons can lead to contact a help line, reason why the number of reasons exceeds the number of enquiries).

Figure 13: : purpose of contact by phone or email in 2012, 2011 and 2009

Similarly, different responses could be given to the enquirer, and a total of 2164 information/responses were given to 1739 enquiries:

Figure 14: responses given in 2012



9. Duration of the enquiry

The information on the duration of the query was available for 1446 calls, emails, letters or visits. In average, queries lasted for 23 minutes (SD 24) and median was 15. The distribution of duration of queries is as follows:

Figure 15: ditribution of the duration of queries in 2012

Eventhough 50% of the calls lasted for 15 minutes or less, the proportion of the calls or emails which needed more than 20 minutes was high (604/1446 or 42%). For the help lines who could collect that information, we could estimate the average duration according to the type of contact used, as shown below:



These estimates were calculated from 900 calls, 479 emails and 66 others for which a duration was indicated. Some help lines did not collect the duration of the call or the email. For the duration of calls, this did not include the time needed to prepare additional responses sent be email or by mail. Others included letters or on site visits.

Duration by help line

All calls included, for the help lines that responded on the duration of each call, we can estimate the average duration (shown below). The duration of an enquiry varied greatly within help lines, even if the average is 23 minutes, some calls or emails may require several hours to respond to.

Figure 17: the average duration of an enquiry varied byhelp line (ENERCA not shown)

There was a weak relation between the mean duration of enquiries and the number of calls/emails responded by person, as indicated in figure below. There seemed to be a plateau,

Figure 16: mean duration of calls, emails or others responses, by type of contact, in 2012.



where beyond 50 enquiries for each respondent, the average duration is 10 minutes and does not change, even for respondents who can take twice as many enquiries:

Figure 18: relation between duration of enquiries and number of calls/emails per person

10. Self-evaluation of the quality of the response given by the respondents

Respondents were invited to score the quality of the call/email on a scale from 0 (could not haven been worst) to 10 (could not have been better). The distribution of the scores is shown below:

Not all help lines ask their respondents to grade the quality of the interaction and response given, reason why the total equals 829 scores from 9 help lines. The mean score was 8.9 (SD: 1.1) and the median 9.

Figure 19: distribution of scores by respondents, from 0 to 10.



This score varied by help line:

Figure 20: average score (SD) by help line

11. Diseases enquired

Some of the network help lines are specialised in one disease or in one group of diseases (AFM-Myoinfo for neuro-muscular diseases, Myasthenia Gravis Romania for Myasthenia Gravis, and Enerca for rare anaemias). Therefore the analysis was made all help lines included, and a second one for general help lines only. Out of the total of 1676 enquiries, 337 were not about a disease. For 1337 calls/emails, the enquiry addressed one or more diseases (other enquiries were general ones about the organisation of care for rare diseases in the country, or no specific disease was discussed). A total of 474 distinct diseases were discussed.

Figure 21: diseases addressed, grouped by categories, for 1674 enquiries, all help lines considered



There was a large representation of neurological diseases, or of diseases with a dominant impact on cognitive functions. As this may have been influenced by two help lines that are specialised in neurological and neuro-muscular diseases, we also analysed the diseases enquired for general help lines (1392 enquiries):

Figure 22: diseases addressed, grouped by category, 1392 enquiries, general help lines only

Neurological diseases and diseases with an impact on cognitive function remain the largest group of diseases discussed.

Enquiries by prevalence of diseases

In total, 11% of enquiries were for very rare diseases (less than 4500 patients in the European Union), 29% for diseases affecting 5000 to 45 000 patients, and 24% for the most frequent of the rare diseases (50 000 to 250 000 patients in the EU). Of note, the prevalence of the disease was not known for 20% of the diseases, and 9% of the diseases were common diseases.

Figure 23: enquiries by prevalence of diseases



12. Enquiries for patients looking for a “patient like me“ 68 enquiries were specifically from patients or relatives looking for another patient with the same disease. The diseases in questions are listed below:

Achondroplasia Man of stone

alternating haemiplegia Medullar aplasia

Arnold-Chiari malformation Monosomy 22q13

Asperger syndrome Multiple sclerosis

Chronic fatigue syndrome Multiple system atrophy

Common variable immunodeficiency Muscular dystrophy

Congenital disorder of glycosylation Myasthenia gravis

Congenital muscular dystrophy type 1A Neurofibromatosis type 2

Congenital myasthenic syndromes Osteogenesis imperfecta

Cornelia de Lange syndrome Primary immunodeficiency

Cyclic neutropenia Progressive supranuclear palsy

Demence à corps de lewy Proximal spinal muscular atrophy

Duchenne muscular dystrophy Proximal spinal muscular atrophy type 2

Familial hypoaldosteronism Rare myoclonus

Glucose-6-phosphate-dehydrogenase deficiency Ring chromosome 14

Hereditary angioedema Robinow, Síndrome de

Holmes-Adie syndrome Septo-optic dysplasia

hydroxyglutaric aciduria Smith Magenis

Isolated Dandy-Walker malformation Vogt-Koyanagi-Harada disease

Juvenile dermatomyositis Willebrand disease

Landau Kleffner, Síndrome de Wolfram, Síndrome de

Lymphangioleiomyomatosis Xanthomatose These diseases are not the rarest of the rare diseases, as illustrated in graph below:

Figure 24: Enquiries for patients looking for another patient with same condition, groupes by prevalence of disease

Only 20% were for extremely rare diseases.



Acknowledgements

We would like to thank the following persons for their participation: AFM Téléthon: Dr Tuy Nga Brignol Rare Diseases Coordinating Centre Veneto Region: Dr Monica Mazzucato, and Prof

Paola Facchin Telefono Verde Malattie Rare: Dr Domenica Taruscio, Agata Polizzi NORO Help Line: Dorica Dan, Paula Cuibus National Help Line Croatia: Vlasta Zamek ENERCA: Joan Lluis Vives Corrons, MD, PhD, María del Mar Mañú Pereira, BSc, PhD

and Laura Olaya Costa, BSc Myasthenia Gravis Romania: Nadia Radulescu Linha Rara: Andreia Bernardo ICRDOD: Georgi Iskrov SIO Feder: Estrella Mayoral Rivero Maladies Rares Info Services: Emilie Ribe, Thomas Heuyer Sjældne Handicap: Gunver Bording

This Caller Profile Analysis is one of the outcomes of the RAPSODY project supported by the European Commission, conducted by Eurordis and its partners:

Funding European Commission, Public Health Programme, DG Health and Consumer Protection Programme of Community action in the field of public health Executive Agency for Health and Consumers

The responsibility of the content of this report lies with the project partners. The Executive Agency is not responsible for any use that may be made of the information contained therein.


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