Collaborations
At Recordati Rare Diseases, we're committed to improving the diagnosis and management of rare diseases. Fundamental to this is our collaboration with rare disease networks, registries and clinical databases and also our work through the Recordati Rare Diseases Foundation. Our goal, in these collaborations, is to improve knowledge of rare diseases and their management.
Read more about collaborations in the USA.
In Europe, we collaborate or have collaborated on the following projects:
E-IMD
E-IMD is the European registry and network for intoxication type metabolic diseases. Its aim is to promote health for people affected with an organic aciduria or with a urea cycle defect. E-IMD is funded by the European Commission through its Public Health and Consumer Protection Directorate (DG SANCO) PHEA programme.
This network has two major activities:
- To establish a European patient registry
- To provide European evidence-based consensus care protocols
Recordati Rare Diseases is an E-IMD associate partner with responsibility for the project evaluation as well as education and training through the Recordati Rare Diseases Fondation d’Entreprise.
E-HOD
E-HOD is the European registry and network for homocystinurias and methylation defects. E-HOD is funded by the European Commission through its DG SANCO PHEA programme. The aim of E-HOD is to reduce variation in the diagnosis and care of homocystinuria and methylation defects between countries and allow patients, wherever they live, to access the necessary expertise and services. E-HOD has three objectives:
- Improve knowledge on homocystinurias and methylation defects by collecting clinical data in a registry
- Develop diagnosis and clinical care recommendations
- Evaluate newborn screening with recommendations.
E-HOD uses the same platform as the E-IMD project.
Recordati Rare Diseases is an associate partner with responsibility for project management and training.
EPNET
http://www.porphyria-europe.org
The mission of EPNET is to present an up-to-date approach to the understanding of porphyria, focusing on the prevention and treatment of acute attacks, to provide information and support to families affected by porphyria, and to support and encourage medical research. EPNET expert centres share data in a European patient registry.
Eunefron
EUNEFRON was a consortium of European partners working in kidney research focusing on orphan nephropathies that received EU funding through the EU Research Framework Programme 7. The project ended in May 2012. One of the Eunefron deliverables was to gather data on cystinosis, a rare nephropathy, into a European registry. The registry is hosted in France by Cemara. Orphan Europe continues to support this registry.
EuroWilson
EuroWilson is a network and registry for Wilson’s disease. EuroWilson has partners in over 20 countries and continues to follow an important cohort of Wilson’s disease patients, supports European patient organisations, participates in laboratory external quality schemes and supports a network of Wilson’s disease expert centres with annual meetings.