NN

13° CONVEGNOPatologia immune e malattie orfane 2010

Torino 21 - 23 gennaio, 2010

NNetwork europei per le malattie rareetwork europei per le malattie rare

Domenica TaruscioDirettoreCentro Nazionale Malattie RareIstituto Superiore di SanitàRoma

I RIUNIONE: LUSSEMBURGO / BRUSSEL - 26 Febbraio 2010

EU NETWORKS FOR RARE DISEASESEU NETWORKS FOR RARE DISEASES

SurveillanceResearch

Development and sharing of information

Care & treatment

AdvocacyPolicy developmentCollaboration

Experts

Health care professionals

Public health specialists

Patients & patients associations

Researches

Development and sharing of information

Programme of Community action on rare Programme of Community action on rare diseases within the framework for action in diseases within the framework for action in

the field of public health (1999 to 2003)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.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 cluster s, and promote the networking and training of experts concerned with the handling of rare diseases and with rapid response to the phenomenon of clusters

Projects supported in the framework of the Projects supported in the framework of the Programme of Community Action on Rare Programme of Community Action on Rare Disease (1999 Disease (1999 –– 2003) and the EU Public 2003) and the EU Public

Health programme 2003Health programme 2003--20082008

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.

Second programmeSecond programmeof Community action in the field of health of Community action in the field of health

(2008(2008--13)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 informationexchange and co-ordination at EU level to encourage continuity

– development of strategies and mechanisms for informationexchange 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.

www.iss.it/cnmr

Raccomandazione approvata: giugno 2009

www.iss.it/cnmr

www.iss.it/cnmr

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EUROPLANEUROPLANEUROPLAN progetto europeo per lo sviluppo di piani

nazionali sulle malattie rare

è un progetto triennale, finanziato dalla Commission e europea nell’ambito del Programma “Sanità Pubblica”

durata : Aprile 2008 – 2011

www.iss.it/cnmr

Responsabile scientifico: Dr. Domenica Taruscio

Obiettivo generale: elaborare raccomandazioni per la realizzazione di piani e/o strategie nazionali e/o regionali sulle malattie rare

Obiettivi specifici di EUROPLANObiettivi 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

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- 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

Partners di EUROPLANPartners di EUROPLAN

EUROPLAN include 30 Paesi

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e

EUROPLAN collabora con

l’Office for rare diseases (NIH-USA)

Paesi che collaborano con

EUROPLAN

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EUROPLAN: un progetto inclusivoEUROPLAN: un progetto inclusivo• Associated partners

• Collaborating partners

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• Collaborating partners

Rappresentanti delle Autorità sanitarie & health care planners

Medici, operatori socio-sanitari, ecc.

Ricercatori

Pazienti

A che punto siamo A che punto siamo nel progetto EUROPLAN?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)

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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

(2) Elaborazione delle (2) Elaborazione delle Raccomandazioni di EUROPLANRaccomandazioni di EUROPLAN

Principali capitoli:

1. Introduzione

www.iss.it/cnmr

1. Introduzione

2. Definizione di Piano o Strategia nazionale

3. etc.Amsterdam, 17-18 settembre 2009

Roma (ISS), 18-19 gennaio 2010

3) Sviluppo di Sviluppo di indicatoriindicatori per il monitoraggio, per il monitoraggio, implementazione e valutazione implementazione e valutazione

dell’impatto di piani / strategie nazionalidell’impatto di piani / strategie nazionali

Workshops:

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1) Madrid :18-19/06/2009

2) Amsterdam:17-18/09/09

3) Roma: 18-19/01/2010

(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

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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

Meeting futuri

• Cracovia , EU Conference; 13-15 Maggio, 2010

• Conferenze nazionali nei 16 Paesi scelti da

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• Conferenze nazionali nei 16 Paesi scelti da EURORDIS (2010)

• Conferenza conclusiva : Roma, ISS (2011)

http://www.europlanproject.eu/

www.iss.it/cnmr

E-mail: europlan@iss.it

National Centre for Rare Diseases

Istituto Superiore di SanitàIstituto Superiore di Sanità

Via Giano della Bella, 34

000162 – Rome

Tel. +39 06 4990 4371

Fax. +39 06 4990 4370

www.iss.it/cnmr

• EU funded project (DG Research)• Scientific responsable: France, Italy – ISS (WP Leader)

EE--Rare: Networking research programmes Rare: Networking research programmes on rare diseases in Europeon rare diseases in Europe

• Scientific responsable: France, Italy – ISS (WP Leader)

• Objective: coordinate existing national research programmes on RD to:

–– Reduce fragmentationReduce fragmentation in research–– Launch multinational joint callsLaunch multinational joint calls and other joint

initiatives–– Eventually develop joint programmes on RDEventually develop joint programmes on RD

At program level & at project level

Exchange of information

and best practices

Survey & Electronic tool for project analysis

Workshops & consultations of experts (identification of

Strategic activities &

Research policy development

EE--Rare roadmapRare roadmap

Mobility & training into RD research

Mutual access to technology platforms

Joint activities

Workshops & consultations of experts (identification of needs, new technologies, new ethical challenges)

Development of common administrative and legal procedures for research funding

Transnational activities

Opening of national calls to international participation

Implementation of transnational calls

10

574

9

56

% of projec ts per thematic area

815

8

Budget: over 9 million eurosPartners: Mean of 5 partners/proposal Proposals:

123 received; 18 thematic areas 13 funded; 7 thematic areas

Facts about the first transnational callFacts about the first transnational call

5

6

10

9

2

2 22 2

2

418

Autoinmune and rare systemic diseases Bone diseasesCardiovascular diseases Complex syndromesDermatological diseases Embryonic developement abnormalitiesEndocrinological diseases Hepato Gastro Entero diseasesImmunodeficiency Kidney diseasesLung diseases Lysosomal storage disordersMetabolic diseases Mitochondrial diseasesNeurological diseases Neuromuscular diseasesNon malignant hematological diseases Sense organs diseases

38

8

8

15

• 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

What nextWhat next?

� Fostering multidisciplinarity thorough training and exchange programs

� Establishing joint programs for rare diseases research

EE--Rare 2 has been submitted to the EU Commission Rare 2 has been submitted to the EU Commission 19 / 01 /2010

Projects supported in the framework of the Projects supported in the framework of the Programme of Community Action on Rare Programme of Community Action on Rare Disease (1999 Disease (1999 –– 2003) and the EU Public 2003) and the EU Public

Health programme 2003Health programme 2003--20082008

The EU has supported EURORDIS projects to gatherthe information required to help define a public policyon rare diseases, to improve access to qualityinformation on rare diseases and orphan drugs, toorganise workshops at European and national level, aswell as to produce guidelines and pedagogicaldocuments.

• Network of Public Health Institutions on Rare Disea ses (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.

Projects supported in the framework of the Projects supported in the framework of the Programme of Community Action on Rare Programme of Community Action on Rare

Disease (1999 Disease (1999 –– 2003) and the EU Public Health 2003) and the EU Public Health programme 2003programme 2003--20082008

of life of RDs patients.

• The EU Surveillance of congenital anomalies in Europ e project , (EUROCAT) a European network of 51 registries in 28 countries for the epidemiological surveillance of congenital anomalies.

• European educational programme on Rare DiseasesThe 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).

• 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

Projects supported in the framework of the Projects supported in the framework of the Programme of Community Action on Rare Programme of Community Action on Rare

Disease (1999 Disease (1999 –– 2003) and the EU Public Health 2003) and the EU Public Health programme 2003programme 2003--20082008

rare and disabling disorders : Creation of a European information network • The EU CAUSE Project - Charg e 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

2005• EU Primary Immunodeficiency Consensus Conference • European Myasthenia Gravis Network• European Autism Information System

2006• Rare Diseases portal (Orphanet)

Projects supported in the framework of the Projects supported in the framework of the Programme of Community Action on Rare Programme of Community Action on Rare

Disease (1999 Disease (1999 –– 2003) and the EU Public Health 2003) and the EU Public Health programme 2003programme 2003--20082008

• 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 D evelopment

(EUROPLAN)• Patients' Consensus on Preferred Policy Scenarios f or Rare Diseases

Reference networks pilot projectsReference 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) (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 forhemorragic syndromes (Prof. Flora Payvandi, Milan).

The RDTF recommendationsThe RDTF recommendations

•• the wording "centre of reference" is not usedthe wording "centre of reference" is not used in the in the futurefuture when referring to the nodes of a network to be established. The preferred wording is “centre of expertisecentre of 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.