Rare diseases and disorders / Projects

Second Programme of Community action in the Field of Health 2008-2013
An EU rare diseases registry for Niemann-Pick Disease type A, B and C. [NPDR]
The general objective of this project is to support accurate and timely diagnosis, treatment, and research for the overlapping but distinct rare genetic diseases, Niemann-Pick disease (NPD) type A, B ...
The general objective of this project is to support accurate and timely diagnosis, treatment, and research for the overlapping but distinct rare genetic diseases, Niemann-Pick disease (NPD) type A, B & C in Europe. We will achieve this by implementing an EU registry for NPD, containing clinical, genetic diagnostic and outcome data. The
purpose of the registry is: a) to establish the natural history of the 3 diseases (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 interventional studies; d) to establish genotype-phenotype correlations. We will achieve high usage of the registry by linking it to rapid biochemical testing; and to up-to-date, accurate information, FAQS, and education material.
Start date: 01/04/2013 - End date: 01/10/2016

Call: Promote Health (Hp-2012)
Topic: Rare diseases and disorders
Second Programme of Community action in the Field of Health 2008-2013
Information network on rare cancers [RARECARENet]
The project aims at building an information network to provide comprehensive information on rare cancers to the community at large (oncologists, general practitioners, researchers, health authorities,...
The project aims at building an information network to provide comprehensive information on rare cancers to the community at large (oncologists, general practitioners, researchers, health authorities, patients). The final objectives are to improve the timeliness and accuracy of diagnosis, to facilitate the access to high quality treatment for patients with rare cancers, to identify centres of expertise for rare cancers in Europe and to standardize practices across Member States (MS).
Start date: 01/05/2012 - End date: 01/05/2016

Call: Promote Health (Hp-2010)
Topic: Rare diseases and disorders
First Programme of Community action in the field of public health (2003-2008)
A European Network of Centres of Reference for Dysmorphology [DYSCERNE]

To establish a network of existing centres of expertise for dysmorphology in order to raise standards for diagnosis, management, and information exchange and dissemination, and to serve as a demonst...

To establish a network of existing centres of expertise for dysmorphology in order to raise standards for diagnosis, management, and information exchange and dissemination, and to serve as a demonstration project for other EU networks of centres of expertise.
Start date: 01/06/2007 - End date: 01/06/2010

Call: Health Information (Hi 2006)
Topic: Rare diseases and disorders
Second Programme of Community action in the Field of Health 2008-2013
EUROPEAN REFERENCE NETWORK OF EXPERT CENTRES IN RARE ANAEMIAS [ENERCA 3]
The main objective of ENERCA 3 is the establishment of a European Reference Network (ERN) of Expert Centres (EC) in Rare Anaemias (RA). Identify appropriate centres of expertise (Expert Centres) throu...
The main objective of ENERCA 3 is the establishment of a European Reference Network (ERN) of Expert Centres (EC) in Rare Anaemias (RA). Identify appropriate centres of expertise (Expert Centres) throughout each national territory involved in ENERCA 3 Project is one of its most important goals. The ERN will establish a link between the ECs and will serve as a platform for foster their participation respecting the national competences and rules in regard of their authorisation or recognition. Once established the ERN will be responsible of organize healthcare pathways for patients suffering from rare anaemias through the establishment of cooperation with relevant experts and exchange of professionals and expertise within country or from abroad when necessary. The ECs will include in their plans or strategies the necessary conditions for the diffusion and mobility of expertise and knowledge on order to facilitate the treatment of patients in their proximity. One of the most important tools for ENERCA activities will be the Web site (www.enerca.org), established by ENERCA 1 and consolidated by ENERCA 2. The Website will be also very useful for giving support to the use of information and communication technologies such as telemedicine where it is necessary to ensure distant access to the specific healthcare needed.
Start date: 01/06/2009 - End date: 01/06/2012

Call: Promote Health (Hp-2008)
Topic: Rare diseases and disorders
Second Programme of Community action in the Field of Health 2008-2013
European network for central hypoventilation syndromes : Optimizing health care to patients [EU-CHS]
The ECHS project aims to optimize health care to patients with CHS in Europe. Central hypoventilation syndromes (CHS) are extremely rare disorders of central autonomic respiratory control and global d...
The ECHS project aims to optimize health care to patients with CHS in Europe. Central hypoventilation syndromes (CHS) are extremely rare disorders of central autonomic respiratory control and global dysfunction of autonomous nervous system. CHS include a heterogeneous group of not fully characterized diseases. Severe chronic central hypoventilation is the hallmark and the most life-threatening feature. Treatment requires advanced techniques of ventilation support (positive pressure ventilation, chest shell ventilation, phrenic nerve pacing, diaphragm pacing) during lifetime. However, currently large disparities exist in access to diagnosis and treatment across Europe while long-term outcomes are unknown.
Start date: 01/06/2009 - End date: 01/06/2012

Call: Promote Health (Hp-2008)
Topic: Rare diseases and disorders