1. 13° CONVEGNO
Patologia immune e malattie orfane 2010
Torino 21 - 23 gennaio, 2010
Network europei per le malattie rare
Domenica Taruscio
Direttore
Centro Nazionale Malattie Rare
Istituto Superiore di Sanità
Roma

5. I RIUNIONE: LUSSEMBURGO / BRUSSEL - 26 Febbraio 2010

6. EU NETWORKS FOR RARE DISEASES
Care & treatment
Advocacy
Research Surveillance
Policy development
Collaboration
Development and sharing of information
Patients &
patients associations
Health care
Public health specialists
professionals
Researches
Experts

7. Programme of Community action on rare
diseases within the framework for action in
the field of public health (1999 to 2003)
• Promote the development of, and access to, a coherent and
complementary European information network on rare diseases …
The availability of this information must be made as widely known as
possible, including via the Internet.
• Contribute to training and refresher courses for professionals in
order to improve early detection, recognition, intervention and prevention
in the field of rare diseases.
• Promote transnational collaboration and networking between groups
of persons directly or indirectly affected by the same rare conditions or
volunteers and professionals involved and coordination at Community
level in order to encourage continuity of work and trans-national
cooperation.
• Support at Community level the monitoring of rare diseases in the
Member States and early warning systems for clusters, and promote
the networking and training of experts concerned with the handling of
rare diseases and with rapid response to the phenomenon of clusters

8. Projects supported in the framework of the
Programme of Community Action on Rare
Disease (1999 – 2003) and the EU Public
Health programme 2003-2008
2003-
1. To strengthen collaboration at European level
among patient organisations
2. To increase the visibility and operational
capacity of organisations and networks active in
the field of rare diseases.

9. Second programme
of Community action in the field of health
(2008-
(2008-13)
• DG SANCO Work Plans for the implementation of the Public
Health Programme lines of action:
– exchange of information via existing European information
networks on rare diseases, and
– development of strategies and mechanisms for information
exchange and co-ordination at EU level to encourage continuity
of work and trans-national co-operation.
– Furthermore, regarding rare diseases projects, DG SANCO
prioritises generalist networks, which centralise information on
as many rare diseases as possible - not just a specific group or
a single disease - to improve information, monitoring and
surveillance.

10. Raccomandazione approvata: giugno 2009
www.iss.it/cnmr

11. www.iss.it/cnmr

12. www.iss.it/cnmr

13. www.iss.it/cnmr

14. EUROPLAN
EUROPLAN progetto europeo per lo sviluppo di piani
nazionali sulle malattie rare
è un progetto triennale, finanziato dalla Commissione
europea nell’ambito del Programma “Sanità Pubblica”
durata: Aprile 2008 – 2011
Responsabile scientifico: Dr. Domenica Taruscio
Obiettivo generale: elaborare raccomandazioni per la
realizzazione di piani e/o strategie nazionali e/o
regionali sulle malattie rare
www.iss.it/cnmr

15. Obiettivi specifici di EUROPLAN
- Raccogliere informazioni sulle iniziative già
esistenti nei vari Paesi
- Analizzare le informazioni raccolte e
identificare le azioni di maggior successo
e le “lessons learned”
- Elaborare le raccomandazioni di
EUROPLAN
- Elaborare indicatori per il monitoraggio, la
implementazione e la valutazione di
piani/strategie nazionali
- Discutere le raccomandazioni nei vari Paesi
- Diffondere nei vari Paesi le raccomandazioni
www.iss.it/cnmr

16. Partners di EUROPLAN
EUROPLAN
include
30 Paesi
e
EUROPLAN collabora con
l’Office for rare diseases (NIH-USA)
www.iss.it/cnmr

17. Paesi che
collaborano con
EUROPLAN
www.iss.it/cnmr

18. EUROPLAN: un progetto inclusivo
• Associated partners
• Collaborating partners
Rappresentanti delle Autorità sanitarie & health care planners
Medici, operatori socio-sanitari, ecc.
Ricercatori
Pazienti
www.iss.it/cnmr

19. A che punto siamo
nel progetto EUROPLAN?
(1) Raccolta delle informazioni già
realizzate nei vari Paesi
• Piani nazionali e/o strategie nazionali
• Ricerca scientifica (es. presenza di programmi o
azioni)
• Empowerment delle Associazioni dei pazienti
• Presenza di specifici programmi sui farmaci
orfani (uso compassionevole, ecc.)
• Finanziamenti specifici dedicati alle malattie rare
• Servizi sociali specializzati
www.iss.it/cnmr

20. (2) Elaborazione delle
Raccomandazioni di EUROPLAN
Principali capitoli:
1. Introduzione
2. Definizione di Piano o
Strategia nazionale
3. etc.
Amsterdam, 17-18 settembre 2009
Roma (ISS), 18-19 gennaio 2010
www.iss.it/cnmr

21. 3) Sviluppo di indicatori per il monitoraggio,
implementazione e valutazione
dell’impatto di piani / strategie nazionali
Workshops:
1) Madrid :18-19/06/2009
2) Amsterdam:17-18/09/09
3) Roma: 18-19/01/2010
www.iss.it/cnmr

22. (4) Discutere le Raccomandazioni
nei vari Paesi con tutti gli stakeholders
Conferenze nazionali saranno organizzate da
EURORDIS, mediante le Alleanze Nazionali
a) presentare le raccomandazioni di EUROPLAN
b) discuterne la trasferibilità nei diversi Paesi,
discutendole con tutti le parti interessate
c) presentare la Communicazione della
Commissione e la Raccomandazione del Consiglio
I Paesi che EURORDIS ha selezionato sono 16:
Bulgaria, Croazia, Danimarca, Francia, Germania,
Grecia, Irlanda, Italia, Lussemburgo, Olanda,
Polonia, Romania, Spagna, Svezia, Ungheria, UK
www.iss.it/cnmr

23. Meeting futuri
• Cracovia, EU Conference; 13-15 Maggio,
2010
• Conferenze nazionali nei 16 Paesi scelti da
EURORDIS (2010)
• Conferenza conclusiva: Roma, ISS (2011)
www.iss.it/cnmr

24. http://www.europlanproject.eu/
www.iss.it/cnmr

25. E-mail: europlan@iss.it
National Centre for Rare Diseases
Istituto Superiore di Sanità
Via Giano della Bella, 34
000162 – Rome
Tel. +39 06 4990 4371
Fax. +39 06 4990 4370

26. www.iss.it/cnmr

27. E-Rare: Networking research programmes
on rare diseases in Europe
• EU funded project (DG Research)
• Scientific responsable: France, Italy – ISS (WP Leader)
• Objective: coordinate existing national research
programmes on RD to:
– Reduce fragmentation in research
– Launch multinational joint calls and other joint
initiatives
– Eventually develop joint programmes on RD

28. E-Rare roadmap
Exchange of information
and best practices
At program level & at project level
Survey & Electronic tool for project analysis
Strategic activities &
Research policy development
Workshops & consultations of experts (identification of
needs, new technologies, new ethical challenges)
Transnational activities
Joint activities
Development of common administrative and
Mobility & training legal procedures for research funding
into RD research
Mutual access to
technology platforms
Opening of national calls to
international participation
Implementation of transnational calls

29. Facts about the first transnational call
Budget: over 9 million euros
Partners: Mean of 5 partners/proposal
Proposals:
123 received; 18 thematic areas 13 funded; 7 thematic areas
% of projec ts per thematic area
4 7 8
9 5 15
8
5
6
10
15
18
4
2 8
38
2 6
2 2 8
9 2 2 5
Autoinmune and rare systemic diseases Bone diseases
Cardiovascular diseases Complex syndromes
Dermatological diseases Embryonic developement abnormalities
Endocrinological diseases Hepato Gastro Entero diseases
Immunodeficiency Kidney diseases
Lung diseases Lysosomal storage disorders
Metabolic diseases Mitochondrial diseases
Neurological diseases Neuromuscular diseases
Non malignant hematological diseases Sense organs diseases

30. What next
next?
• Success of E-Rare call reflects expectations and needs of the RD
research community
• Legal and administrative barriers among countries are still significant
E-Rare will continue its efforts towards:
Facilitating access of RD researchers to the best technology
platforms regardless their localization
Fostering multidisciplinarity thorough training and exchange
programs
Establishing joint programs for rare diseases research
E-Rare 2 has been submitted to the EU Commission
19 / 01 /2010

31. Projects supported in the framework of the
Programme of Community Action on Rare
Disease (1999 – 2003) and the EU Public
Health programme 2003-2008
2003-
The EU has supported EURORDIS projects to gather
the information required to help define a public policy
on rare diseases, to improve access to quality
information on rare diseases and orphan drugs, to
organise workshops at European and national level, as
well as to produce guidelines and pedagogical
documents.

32. Projects supported in the framework of the
Programme of Community Action on Rare
Disease (1999 – 2003) and the EU Public Health
programme 2003-2008
2003-
• Network of Public Health Institutions on Rare Diseases
(NEPHIRD)
The project aimed at discussing and analysing the epidemiological
data collection for RD in participating countries in order to identify
and suggest possible approaches for estimating epidemiological
indices. It aimed also at analysing the state of the art with regard to
RDs focusing on health care services accessibility and quality for
RDs patients and undertaking a specific assessment of the quality
of life of RDs patients.
• The EU Surveillance of congenital anomalies in Europe project,
(EUROCAT) a European network of 51 registries in 28 countries
for the epidemiological surveillance of congenital anomalies.
• European educational programme on Rare Diseases
The project involved several public conferences with the aim of
improving communication and co-operation between people professionally
interested in rare diseases in Europe and offered education and training
opportunities to health professionals and others involved in the field of rare
diseases (scientists, doctors, nurses, patient support groups).

33. Projects supported in the framework of the
Programme of Community Action on Rare
Disease (1999 – 2003) and the EU Public Health
programme 2003-2008
2003-
• ENERCA (European Network for Rare Congenital Anaemias)
• European network on the epidemiology, pathophysiology and treatment of
severe chronic neutropenia
• The EU Rare Forms of Dementia projects
• The EU EUROMUSCLERNET project - Muscle diseases - prototype of
rare and disabling disorders: Creation of a European information network
• The EU CAUSE Project - Charge Association and Usher Syndrome in
Europe
• The European Information Network on Paediatric Rheumatic Diseases
Project
• The EU project establishing European Neurofibromatosis Lay Group
Network
• Health promotion, improving health information and knowledge for
neurofibromatosis (NF) in Europe
• The EU Information network for immunodeficiencies
• The EU TEAM project - Transfer of expertise on rare metabolic diseases in
adults

34. Projects supported in the framework of the
Programme of Community Action on Rare
Disease (1999 – 2003) and the EU Public Health
programme 2003-2008
2003-
2005
• EU Primary Immunodeficiency Consensus Conference
• European Myasthenia Gravis Network
• European Autism Information System
2006
• Rare Diseases portal (Orphanet)
• Surveillance of rare cancers in Europe (RARECARE)
• European Register on Cushing’s Syndrome (ERCUSYN)
2007
• European Haemophilia Safety Surveillance System
• European Project for Rare Diseases National Plans Development
(EUROPLAN)
• Patients' Consensus on Preferred Policy Scenarios for Rare Diseases

35. Reference networks pilot projects
• The 2006 Annual Work Programme for grants from the European
Commission ….the development of European Network of Centre
of Expertise for rare diseases as a prority, priority 2.1.4(e).
• Six networks of centres of reference for a specific rare
disease or a group of rare diseases have been selected,
spanning six EU countries. They will serve as pilot projects
for reference networks of Centres of expertise:
– European Centres of Expertise Network for Cushing
Syndrome
(Dr Susan Webb, University of San Pau, Barcelona)
– European Centres of Expertise Network for porphyria
(Prof. Jean-Charles Deybach, Paris)
– European Centres of Expertise Network alpha-1
antitrypsin deficit (Prof. Jan Stolk, Leiden)
– European Centres of Expertise Network for dysmorphic
syndromes (Prof. Jill Clayton-Smith, Manchester)
– European Centres of Expertise Network for cystic
fibrosis
(Prof. Thomas Wagner, Frankfurt)
– European Centres of Expertise Network for
hemorragic syndromes (Prof. Flora Payvandi, Milan).

37. The RDTF recommendations
• the wording "centre of reference" is not used in the
future when referring to the nodes of a network to be
established.
The preferred wording is “centre of expertise
centre expertise”.
“Centres of expertise” exist everywhere,
whereas “centres of reference” are confined to a few
countries.
• ... Countries with established centres of reference
should be encouraged to share their experience and the
results of their outcome measures.
• the European Commission plays an important role in
supporting the identification of centres of expertise and
in the diffusion of the information about them.