Sustainable orphan drug development through registries and monitoring
09 / 2008 - 09 / 2012
Website TI Pharma
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.