Rare diseases and disorders / Projects

Second Programme of Community action in the Field of Health 2008-2013
Social Economic Burden and Health-Related Quality Of Life in Patients with Rare Diseases in Europe [BURQOL-RD]
The main aim of this project is to develop a disease based model capable of quantifying the socio-economic burden and Health-Related Quality of Life (HRQOL) for patients in Europe with rare diseases (...
The main aim of this project is to develop a disease based model capable of quantifying the socio-economic burden and Health-Related Quality of Life (HRQOL) for patients in Europe with rare diseases (RD) and their caregivers. The model that will be generated will not only be suitable to apply a wide range and hopefully all RD known to date, but it will also be sufficiently flexible to identify and adapt to the challenges faced by the different Health and Social Care Systems of EU Member States.
Start date: 21/04/2010 - End date: 21/04/2013

Call: Promote Health (Hp-2009)
Topic: Rare diseases and disorders
Second Programme of Community action in the Field of Health 2008-2013
European registry of patients with McArdle disease and very rare muscle glycogenolytic disorders (MGD) with exercise intolerance as the major symptom (PR-MDMGD) [EUROMAC]
General objective: The implementation of an EU registry of patients with McArdle disease and very rare muscle glycogenolytic disorders (MGD) with exercise intolerance as the major symptom (PR-MDMGD)....
General objective: The implementation of an EU registry of patients with McArdle disease and very rare muscle glycogenolytic disorders (MGD) with exercise intolerance as the major symptom (PR-MDMGD). A web portal, with public and intranet access will support the registry and the dissemination of information on these rare diseases. The main aim of this project will be to improve health outcomes while at the same time reducing health and social care costs by disseminating knowledge. In these patients delayed diagnosis and incorrect advice leads to debilitating symptoms and increased risk of life-threatening crises necessitating admission to critical care. All of which can be prevented by correct medical care.
Strategic relevance &contribution to the programme: The project will address the lack of data available on diagnosis and treatment of McArdle disease and MGD. By registering patient data from at least 8 European countries and moving towards a wider global patient registry, access and quality of care for patients across Europe will be improved which is highly relevant to the EU.
Start date: 22/03/2012 - End date: 22/07/2015

Call: Promote Health (Hp-2012)
Topic: Rare diseases and disorders
First Programme of Community action in the field of public health (2003-2008)
European Network of Reference for Rare Pediatric Neurological Diseases [nEUroped]
NEUROPED will focus on a number of such conditions, among which Alternating Hemiplegia of Childhood (AHC), Narcolepsy and Rare Surgically Treatable Epileptic Syndromes ( RSTES) to include Tuberous Scl...
NEUROPED will focus on a number of such conditions, among which Alternating Hemiplegia of Childhood (AHC), Narcolepsy and Rare Surgically Treatable Epileptic Syndromes ( RSTES) to include Tuberous Sclerosis; Sturge-Weber; Hypothalamic hamartoma, Landau- Kleffner syndrome and Rasmussen`s encephalitis.

Start date: 24/04/2008 - End date: 24/12/2011

Call: Health Information (Hi 2007)
Topic: Rare diseases and disorders