Rare diseases and disorders / Projects

Second Programme of Community action in the Field of Health 2008-2013
Assistance Publique Hôpitaux de Paris [AP-HP-Wilson FY2011]
EuroWilsoN (EW) mission is to improve quality of care and access to multi-disciplinary expertise for EU patients with Wilson’s disease (WD). From 2004-2008 EW (LSHM CT2004 503430), has achieved:

- ...
EuroWilsoN (EW) mission is to improve quality of care and access to multi-disciplinary expertise for EU patients with Wilson’s disease (WD). From 2004-2008 EW (LSHM CT2004 503430), has achieved:

- An active patient registry
- Interaction between clinicians and an expert validation committee
- External molecular quality network
- A DVD in the neurological evaluation
- Transferring knowledge by contribution to the public consultation papers and participation in policy conferences
- organisation of a European patient meeting during the Eurordis conference

EW’s goals include maintaining and enhancing this network; the French centre for WD serves as a network model. The network will include all stakeholders involved in patient care: medical, scientific para-medical, EU authorities and patients’ associations. EW will:

- Promote exchange between participants
- Provide up-to-date disease information on its website (eurowilson.org) and Orphanet
- Develop and publish evidence based clinical guidelines
- Enhance the registry to provide epidemiological data, outcome indicators, country comparisons and to facilitate collaborative research and public health projects
- Support patients and patient associations in the EU

Start date: 01/01/2011 - End date: 01/01/2012

Call: Promote Health (Hp-2010)
Topic: Rare diseases and disorders
Second Programme of Community action in the Field of Health 2008-2013
European Surveillance of Congenital Anomalies [EUROCAT]
To facilitate the reduction of the public health burden of congenital anomalies (CA) by epidemiological surveillance through the EUROCAT network of population-based congenital anomaly registers.
Start date: 01/01/2011 - End date: 01/01/2014

Call: Promote Health (Hp-2010)
Topic: Rare diseases and disorders
Second Programme of Community action in the Field of Health 2008-2013
An EU Rare Diseases Registry for Wolfram Syndrome, Alstrom Syndrome and Bardet Biedl Syndrome [EURO-WABB]
The general objective of this project is to support efficient diagnosis, treatment, and research for the overlapping rare genetic diseases Wolfram, Alstrom and Bardet Biedl syndromes and other rarer ...
The general objective of this project is to support efficient diagnosis, treatment, and research for the overlapping rare genetic diseases Wolfram, Alstrom and Bardet Biedl syndromes and other rarer diabetes syndromes in Europe. We will achieve this by implementing an EU registry for Rare Diabetes Syndromes (RDS), containing clinical, genetic diagnostic and outcome data. The purpose of the registry is: a) to establish the natural history of RDS (their characteristics, management and outcomes); b) to assess clinical effectiveness of management and quality of care; c) to provide an inventory of patients for recruitment to intervention studies; d) to establish genotype-phenotype correlations. We will achieve high usage of the registry by linking it to rapid genetic testing; and to up to date, accurate information, FAQS, and education material.
Start date: 01/01/2011 - End date: 01/07/2014

Call: Promote Health (Hp-2010)
Topic: Rare diseases and disorders
Second Programme of Community action in the Field of Health 2008-2013
European registry and network for Intoxication type Metabolic Diseases [E-IMD]
The overall aim of the European registry and network for Intoxication type Metabolic Diseases (E-IMD)is to promote health for individuals affected with rare organic acidurias (OADs) or urea cycle defe...
The overall aim of the European registry and network for Intoxication type Metabolic Diseases (E-IMD)is to promote health for individuals affected with rare organic acidurias (OADs) or urea cycle defects (UCDs). E-IMD has two specific objectives:
(1) To establish a European patient registry describing the disease course, epidemiology, diagnostic and therapeutic strategies for OADs and UCDs and to provide information to national and EU healthcare authorities. Anonymised data collection via a web-based password-protected EU registry will be based on routine follow-up parameters in 15 EU countries.
(2) To provide European evidence-based consensus care protocols for patients with OADs and UCDs. Based on the largest available collection of patient data (see objective 1) and a systematic literature search, a European consensus group will describe the best evidence available for the diagnosis and treatment. Consensus care protocols will be translated into official EU languages, provided via the E-IMD website and serve as a template for national guidelines and patient brochures.
Start date: 01/01/2011 - End date: 01/05/2014

Call: Promote Health (Hp-2010)
Topic: Rare diseases and disorders
Second Programme of Community action in the Field of Health 2008-2013
The European Multiple Sclerosis Platform [EMSP_FY2012]
Founded in 1989, EMSP is the umbrella organisation representing 38 national MS societies from 34 European countries. EMSP represents their interests at European level and works collectively with its m...
Founded in 1989, EMSP is the umbrella organisation representing 38 national MS societies from 34 European countries. EMSP represents their interests at European level and works collectively with its members to achieve our goals of high quality equitable treatment and support for all people with Multiple Sclerosis (PwMS) throughout Europe.

EMSP vision is to move from high quality treatment and support for all PwMS in Europe to a world without MS.

EMSP`s mission is to ensure the development and the implementation of high quality standards of treatment and support for PwMS, their families and their carers in all EU member states, to allow them to lead their life independently and to recognise them as equal members of the society.

EMSP work priorities to achieve this mission are to:
- influence EU institutions and other decision-making bodies to improve the quality of life of PwMS;
- network with other European organisations which share of vision of truly patient centred approach;
- provide MS member organisations with information on relevant EU draft legislation and how we can influence it, and evidence - based projects that will contribute to their work;
- develop and promote recommendations for improved medical treatment and rehabilitation to be implemented in the EU member states and other countries;
- encourage coordinated research aiming to benefit of PwMS;
- initiate and implement cross-border projects to improve the living conditions of PwMS (e.g. in the field of therapies, employment, social security, infrastructure, etc.);
- act as information platform by exchanging knowledge and best practices relevant to the work of the national MS member organisations;
- enhance a general awareness on MS by informing and educating external audiences;
- and to support national MS Societies both recent and long-established in Europe.
Start date: 01/01/2012 - End date: 01/01/2013

Call: Generate And Disseminate Health Information And Knowledge (Hi-2010)
Topic: Rare diseases and disorders