Patients registries / 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: Patients registries
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: Patients registries
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: Patients registries
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: Patients registries
Second Programme of Community action in the Field of Health 2008-2013
European Porphyria Network: providing better healthcare for patients and their families [APHP-EPNET_FY2012]
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)since ...
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)since 2007. The objective is to establish an effective network of specialist porphyria centres throughout the EU. Currently, EPNET consists of 28 EU specialist centres from 17 European countries that work together to develop an up-to-date approach to the management of patients and families with porphyria that conforms to uniform standards. We also have members from Australia, New Zealand, South Africa and the USA.
Evidence from the last years shows that this network and its activities have a positive effect on the quality of diagnosis, number of patients diagnosed and treatment choices (shown through the collection of data, enquiries to the drug database and external quality scheme). However, porphyria centres and/or clinical experts are still not present in all EU countries; therefore the care is not equal in all member states. An objective for 2012 will be to work with national plans, the laboratory network and the cross boundary directive to find a method to reach out to patients in countries currently outside EPNET e.g. Bulgaria, Greece, Portugal, Croatia and others.
EPNET focuses on: provision of information to patients (in their own languages) and healthcare professionals (HCPs); 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; dissemination of information on safety of drugs. 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: 01/01/2012 - End date: 01/01/2013

Call: Promote Health (Hp-2010)
Topic: Patients registries