Patients registries / Projects

Second Programme of Community action in the Field of Health 2008-2013
Inherited NeuRoMetabolic Diseases INFORMATION NETWORK [InNerMeD-I-Network]
NeuroMetabolic Diseases (NMDs) are genetic rare diseases constituted by metabolic disorders that impact on the brain from birth.
Drugs replacing the missing enzyme or detoxifying cell metabolism can, ...
NeuroMetabolic Diseases (NMDs) are genetic rare diseases constituted by metabolic disorders that impact on the brain from birth.
Drugs replacing the missing enzyme or detoxifying cell metabolism can, if promptly used in newborns or young children, slow the neurodegeneration and increase life expectancies. In addition, pre-symptomatic, prenatal diagnosis and newborn screening are already available for about 70 diseases and will be soon routine tools of prevention in newborns.
But data on NMDs are few, often bad disseminated, and experts are poorly connected. Then a challange is to increase the general and medical awareness on NMDs by disseminating proper information.
Inherited NeuroMetabolic Disease-Information-network (InNerMeD-I-network) is aimed to develop a network of information targeted on diagnosis and treatment of inherited NMDs based on the exchange of information among experts, collect standardised data and disseminate validated data among patients and all the interested parties.

Start date: 01/04/2013 - End date: 01/10/2015

Call: Promote Health (Hp-2012)
Topic: Patients registries
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: Patients registries
Second Programme of Community action in the Field of Health 2008-2013
European Framework for Evaluation of Organ Transplants [EFRETOS]
To evaluate the results of transplantation, by promoting a register of registries to follow-up on organ recipients.
Start date: 01/05/2009 - End date: 01/05/2011

Call: Improve Citizen'S Health Security (Hs-2008)
Topic: Patients registries
Second Programme of Community action in the Field of Health 2008-2013
Cross-Border Patient Registries Initiative [PARENT]
The overall objective is to support member states in developing comparable and coherent patient registries in fields of identified importance (e.g. chronic diseases, rare diseases, medical technology)...
The overall objective is to support member states in developing comparable and coherent patient registries in fields of identified importance (e.g. chronic diseases, rare diseases, medical technology) with the aim to rationalize and harmonize the development and governance of patient registries, thus enabling analyses of secondary data for public health and research purposes. (Please find the entire text in the accompanying Word document, Annex 1b).
Start date: 01/05/2012 - End date: 01/12/2015

Call: Generate And Disseminate Health Information And Knowledge (Hi-2010)
Topic: Patients registries
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: Patients registries