RAPSODYRare Disease Patient Solidarity project

EC2005120

Yann Le CamEURORDIS, Chief Executive Officer

RAPSODY, Project Leader

Luxembourg June 20 2007

www.eurordis.org

Progress Report June 2007

PHOTO PHOTO

Eurordis survey on patients’ experience and expectations

concerning access to health services in Europe(EurordisCare3 - Rapsody Work Package 5)

Presentation to the DG SanCo Rare Disease Task Force June 20th 20073

Represent a wide diversity of prevalence, age of onset, clinical manifestations,handicap generated and availability of treatments.

• Marfan syndrome (3,00 / 10 000)• Fragile X syndrome (1,42 / 10 000)• Williams syndrome (1,33 / 10 000)• Ehlers-Danlos syndrome (1,25 / 10 000)• Cystic fibrosis (1,20 / 10 000)• Prader-Willi syndrome (1,07 / 10 000)• Epidermolysis bullosa (1,00 / 10 000)• Tuberous sclerosis (0,88 / 10 000)• Myasthenia (0,85 / 10 000)• Osteogenesis imperfecta (0,65 / 10 000)• Huntington disease (0,62 / 10,000)• Ataxias (0,22 / 10 000)• Aniridia (0,17 / 10 000)• Pulmonary arterial hypertension (0,15 / 10 000)• Chromosome 11qdisorders (150 published cases)• Alternating hemiplegia (200 published cases, about 30 in France)

16 rare diseases

Presentation to the DG SanCo Rare Disease Task Force June 20th 20074

A true European dimension

• Commitment of 116 patient organisations as of 07/06/2007

• Representing 23 countriesOverall: 21 EEE states/28, plus Switzerland and CroatiaField work completed: France, Hungary, Spain Field work in progress: Austria, Belgium, Cyprus, Czech Republic, Denmark, Germany, Greece, Ireland, Italy, Malta, Netherlands, Slovakia, Sweden, Switzerland, United KingdomField work to be started: Croatia, Finland, Norway, Poland, Romania,

• Target: 16 languagesTranslation completed: Danish, Dutch, English, French, German, Greek, Hungarian, Italian, Slovak, Spanish, SwedishTranslation in progress: Croatian, Finnish, Polish, Romanian, Still to be translated: Norwegian

Presentation to the DG SanCo Rare Disease Task Force June 20th 20075

EurordisCare 3 Questionnaire progress

• 116 organisations agreed in principle as of 07/06/200718 additional patient organisations have joined since May 2007

• State of progress69 : pack of questionnaires already sent out24 : being printed9 : in progress9 : translation and/or validation of less frequent languages in

progress (Croatian, Finnish, Norwegian, Polish, Romanian)

• For each organisation: between 20 and 450 questionnaires sent out (between February and May)

• 3 135 questionnaires returned as of 07/06/20072 853 questionnaires analysed out of 12 480 sent (resp. rate: 25%)From Fra, Spa, Dnk, Ita, UK, Ire, Swe, Bel, Ger, Swi, Hun, Slk, Aus

Presentation to the DG SanCo Rare Disease Task Force June 20th 20076

Analysis of results

• Preliminary analysis :Deadline for responses 11/06/2007Data entry : May and JuneAnalysis : June and JulyFirst presentation and workshop : 12-13th July 2007 during the “European Workshop on Centres of Expertise/Reference networks”

• Overall analysis will last until 2008 Answers received after June 11th will be included, as well as participation of patient organisations that joined the study later (Deadline for participation agreement : 30/08/2007 // for responses : 30/09/2007)Second presentation : 27-28th November 2007 “4th European Conference on Rare Diseases (ECRD 2007)”

• In addition to overall results, each organisation will receive :• Statistical results of the analysis based on responses of their members,• Analyses obtained with data collected on their disease in other countries,• And data on the other 15 diseases in their own country.

Centres of Expertise / European Reference Networks(Rapsody Work Package 8)

Presentation to the DG SanCo Rare Disease Task Force June 20th 20078

11 National workshops held

Ass. Haemophil PortugalAna Rita DagninoMarch 30thPortugal11

EGANAlastair Kent GIGMelissa WinterMarch 28thUnited Kingdom10

VSOPPauline EversApril 11thThe Netherlands9

Swedish AllianceElisabeth WalleniusMarch 16thSweden8

FEDERRosa Sanchez de VegaMarch 23rdSpain7

ALLAN asblBettina VogelMarch 22ndLuxembourg6

UNIAMOSimona BellagambiMarch 24thItaly5

ACHSEMirjam MannMarch 19thGermany4

Alliance Maladies RaresFrançoise AntoniniMarch 29thFrance3

RDDTorben GrönnebaekMarch 26thDenmark2

SUKLMaryna KrenkovaMarch 2ndCzech Rep.1

OrganisationParticipantsDatesMember state

Presentation to the DG SanCo Rare Disease Task Force June 20th 20079

263 Participants & 10 Synthesis report

Participants total: 263

received14 PO, 10 HCP, 1 PM = 25March 30thPortugal11

received16 PO, 12 HCP, 1 PM = 29March 28thUnited Kingdom10

received9 PO, 11 HCP, 2 PM = 22April 11thThe Netherlands9

received30March 16thSweden8

received17 PO, 16 HCP, 4PM = 37March 23rdSpain7

pendingMarch 22ndLuxembourg6

received10 PO, 7 HCP, 1 PM = 18March 24thItaly5

received11PO, 6 HCP, 5 PM = 20March 19thGermany4

received12 PO, 6 HCP, 7 PM, 1 Pharm = 26March 29thFrance3

received10 PO, 7 HCP, 2 PM = 19April 20thDenmark2

received21 PO, 12 HCP, 4 PM = 37March 2ndCzech Rep.1

ReportParticipantsDatesMember state

Presentation to the DG SanCo Rare Disease Task Force June 20th 200710

Next steps

• Advisory group meeting (synthesis of 10 reports): June 11Question N° 1: Needs and expectations for national rare diseases centres ofreference/expertiseQuestion N° 2: Proposals for the evaluation of national centres of reference in your countryQuestion N° 3. Cooperation with other countries and recommendation for European reference networks

• Information to EU HLG WG ERN (Brussels): June 14• Information to DG SanCo RDTF (Luxembourg): June 20• First results EurordisCare survey (Paris): End June• European Workshop (Prague): July 12-13• Report to European Conference on Rare Diseases Nov 27-28

Presentation to the DG SanCo Rare Disease Task Force June 20th 200711

European Workshop in Prague – Day 1

EurordisCare Survey results, 2.30 – 4.30 pmCo-chairs: Terkel Andersen +/- Panos Kanavos LSE

Survey on patient experience and expectations in access to health services (EurordisCare3)Pierre Chauvin, INSERM, Unit Public HealthPanel with representatives of the selected diseases

Lunch 1.00 pm to 2.30 pm90 min

Introduction 11.00 to 12.00 amCo-chairs: Birthe Holm (Rare Disorders Denmark), Martin Benes (SUKL director)Welcome speechCzech patient representativeWorkshop objectivesFrançois Houyez EURORDIS, EUPresentation of the proposals of the High Level Group on Health Services and Medical CareAude Marlier Sutter, Ministry of Health, FrancePresentation of the DG Sanco Rare Disease Task Force reportDr Ségolène Aymé, DG SanCo Rare Disease Task Force, EUDiscussion

Presentation of selected European networks 12.00 – 1.00 pmCo-chairs: Birthe Holm (Rare Disorders Denmark) Martin Benes (SUKL director)- Establishing the six first European Reference Networks: practical experienceProl Lara Fragonese, Rare Bleeding Disorders Network, Netherlands- Cystic fibrosis, a European Reference Network supported by DG SanCoProf Thomas Wagner, ECORN-CF, Germany- EuroAtaxia, a European Network of Centre of Expertise supported by DG. ResearchProf Olaf Riess, EuroAtaxia, GermanyDiscussion

5 min

5 min

20 min

20 min

10 min

10 min

10 min

10 min

30 min

First day: starts at 11.00 am

Presentation to the DG SanCo Rare Disease Task Force June 20th 200712

European Workshop in Prague - Day 2

Ends at 4.00 pm

Closing remarks 3.45 to 4.00 pmThe way forward form the Commission^’s perspectiveToni Montserrat, DG SanCo, EU (tbc)

15 min

Methodology to assess the outcomes of European Reference Networks, 2.30 to 4.00 pmChair person: Prof Birgitta Strandvik, Sweden and Prof Olaf Riess, GermanyDiscussion based on DG SanCo RDTF meeting June 2007Dr Edmund Jessop, Ministry of Health, UKDescription of the evaluation plan as proposed by the French policy on centres of expertiseHAS representative (France)Discussion

20 min

20 min

30 min

Lunch 1.00 pm to 2.30 pm

Synthesis of national workshops 9.30 am – 1.00 pmChair person: Terkel Andersen (EURORDIS), Maryna Krenkova (SUKL, Czeck Republic)Overall presentation of the national workshops

Synthesis of responses to question 1 by Christel Nourissier, EURORDIS, EUDiscussionResponses to question 2 by Simona Bellagambi, UNIAMO, ItalyDiscussionCoffee break 11.00 am to 11.20 amResponses to question 3 by Birthe Holm, Rare Disorders DenmarkDiscussionProposed priority of criteria and their content for European Reference NetworksYann Le Cam, EURORDIS, EUDiscussion

10 min

10 min30 min10 min30 min11.00 am10 min30 min12.00 am

30 min

Second day

Presentation to the DG SanCo Rare Disease Task Force June 20th 200713

Participantsas of June 8th: 54 confirmed, 47 pending

Anders Fasth

Manuel Posada

Dr Domenica Taruscio

Prof. Flora PayvandiDr François Faurrisson

Prof Jan StolkDr Pierre Chauvin

President HLG HSMCDr Frédéric Sicard

Claire Joan Scharf-KrönerProf Dian DonnaïDr Edmund Jessop

Martin TerbergerFrançoise GrossetêteProf Thomas Wagner

Martin DorazilDr Alexandra FourcadeProf Jean Charles Deybach

John RyanDr Kerstin WestermarkProf Olaf Riess

Dr Catherine BerensDr Susan WebbDr Edmund Jessop

Manuel HallenDr Jill Clayton-SmithDr Ségolène Aymé

Dr Andrzej RysOctavie Quintana-TriasToni Montserrat

PendingNot attendingConfirmed

Presentation to the DG SanCo Rare Disease Task Force June 20th 200714

Participants as of June 11th 2007 (2)

• Confirmed (54)22 patient representatives from national workshops 7 members Advisory Committee WP8 & WP5 10 health care professionals3 MS representatives4 policy makers7 Eurordis Board members/staff

• Pending (47)7 MS representatives / EU HLG HSMC WG ERN12 participants from disease networks EurordisCare survey9 EC representatives8 patient representatives from national workshops4 MEPs5 members Advisory groups WP5 & WP82 health care professionals

• Expected total: 101

European Conference on Rare Diseases2007 in Lisbon

(Rapsody Work Package 2)

Presentation to the DG SanCo Rare Disease Task Force June 20th 200716

Organisation

• On-line registration opened: www.rare-diseases.eu

• See Electronic announcement for more information

This paper was produced for a meeting organized by Health & Consumer Protection DG and represents the views of its author on thesubject. These views have not been adopted or in any way approved by the Commission and should not be relied upon as a statement of the Commission's or Health & Consumer Protection DG's views. The European Commission does not guarantee the accuracy of the dataincluded in this paper, nor does it accept responsibility for any use made thereof.