Rare diseases / Projects

Second Programme of Community action in the Field of Health 2008-2013
AP-HP_Porphyria_FY2011 [AP-HP_FY2011]
Our mission is to improve the lives of porphyria patients by improving the diagnosis and treatment of these rare conditions. EPNET has been funded by the EU Commission (DG SANCO, PHEA programme). The ...
Our mission is to improve the lives of porphyria patients by improving the diagnosis and treatment of these rare conditions. EPNET has been funded by the EU Commission (DG SANCO, PHEA programme). The objective is to provide an effective network of specialist porphyria centres in each country. EPNET contains 28 EU specialist centres that work together to develop an up-to-date approach to the management of patients and families with porphyria that conforms to uniform standards. EPNET focuses on: provision of information to patients (in their own languages) and healthcare professionals (HCPs); collection of information on safety of drugs; use of external quality assessment to develop quality standards for diagnosis and clinical advice; a web-based registry to collect data about the porphyrias to inform clinical practice and healthcare planning. Progress is communicated to partners through regular meetings and reports. Information on the porphyrias and drug selection is made available to patients, public health authorities and HCP’s at www.porphyria-europe.org; www.drugs-porphyria.org.
Start date: 01/01/2011 - End date: 01/01/2012

Call: Promote Health (Hp-2010)
Topic: Rare diseases
Second Programme of Community action in the Field of Health 2008-2013
European Organisation for Rare Diseases [EURORDIS_FY2011]
EURORDIS is a patient-driven alliance of Patient Organisations(POs) and individuals active in the field of rare diseases (RD). It represents the voice of an estimated 29 million citizens in the EU.

E...
EURORDIS is a patient-driven alliance of Patient Organisations(POs) and individuals active in the field of rare diseases (RD). It represents the voice of an estimated 29 million citizens in the EU.

EURORDIS mission is to build a strong pan-European community of Patient Organisations and people living with RD, to be their voice at the European level and to fight against the impact of RD on their lives.

To this end, EURORDIS undertakes activities on behalf of its members:

• Empowering RD patient groups
• Advocating RD as a public health priority
• Raising public awareness on RD
• Improving access to information, treatment, care and support for people living with RD
• Improving quality of life
• Encouraging good practices in relation to these issues
• Promoting scientific and clinical research on RD
• Developing treatments and drugs for people with RD

EURORDIS plays a pivotal role in the implementation of the EU strategy on RD (EC Communication, Dec.2008 and Council Recommendations, June 2009), in the EU Committee of Experts on RD and in the elaboration of National Plans or Strategies on RD.
Start date: 01/01/2011 - End date: 01/01/2012

Call: Promote Health (Hp-2010)
Topic: Rare diseases
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
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
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