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Fighting rare diseases: sustainable orphan drug development
The expertise of several partners involved in the research of rare inborn errors of metabolism (IEM) has been assembled in the Orphan Disease Registry Consortium. Bundling of expertise will greatly support registry of IEM in The Netherlands and will lead to improved guidelines for treatment and monitoring as well as a better understanding of IEM in the future.
In one of the subprojects, the expertise of eight Dutch clinical genetic centers is bundled in a disease specific registry system, which will support the registry of IEM in particular. Another subproject is the identification of biomarkers as an important tool to improve IEM diagnosis, and monitor disease severity and the effect of therapy on IEM. In close collaboration with the VUMC, the feasibility as well as social, legal and ethical implications of neonatal screening as an early diagnostic tool for IEM is investigated.
By facilitating the development of new orphan drugs, these projects contribute to the wellbeing of society and patients with rare diseases in particular.
Full project title: Sustainable orphan drug development through registries and monitoring
Start date: September 2008
End date: September 2012
Goal: Understanding rare inborn errors of metabolism and improving treatment
Principal investigator: Sonja van Weely, ZonMW
Project size: 4 FTE's
Partners: Academic Medical Center, Erasmus University Medical Center, Genzyme, Health Care Insurance Board, University Medical Center Utrecht, Shire, Steering Committee on Orphan Drugs, ZonMw
Around 29 million people in the European Union and approximately 1 million people in the Netherlands suffer from a rare disease. Rare diseases are life threatening or chronically debilitating diseases with a prevalence of less than 5 per 10,000 inhabitants in the European Union. On estimate, there are between 5,000 and 8,000 distinct rare diseases. An estimated 80% of these diseases have a genetic origin (inborn), whilst the other 20% may be rare infectious diseases, auto?immune diseases or rare poisonings. Thirty percent of children with a rare disease do not make it past their fifth birthday. For most rare diseases therapy has not been developed due to lack of general awareness and gaps in knowledge. Medicines aimed at rare diseases are called orphan drugs.
Machtelt Bouwman (project T6-208)
Fabry Disease: studies on diagnosis, screening and patients' perspectives