The HAMLET study will valorize clinical and laboratory tools for improved diagnosis and subsequent treatment of Fabry disease
Fabry disease is an X-chromosomal-linked inherited multisystem disorder that belongs to the group of lysosomal storage disorders. Increased awareness of Fabry disease and screening in risk groups have led to identification of alfa Galactosidase A mutations of unknown clinical significance. This can result in a delay in identifying true Fabry patients as well as erroneously diagnosing patients who do not have Fabry disease.

The aim of this project is to establish an improved way of diagnosing, counselling and appropriately initiating treatment in Fabry patients, which can lead to important medical, societal and economical benefit. For each of the organ systems that can be affected by Fabry disease, diagnostic algorithms will be built and linked to standard biochemical and genetic tests.

Fast facts
Full project title: Fabry or not Fabry: valorization of clinical and laboratory tools for improved diagnosis of Fabry disease
Start date: 1 January 2012
End date: 31 December 2013
Goal: To develop a preliminary diagnostic algorithm for Fabry disease
Principal investigator: Carla Hollak
Project size: 4 FTE's
Project budget: 390 k€
Partners: Genzyme, Academic Medical Centre of the University of Amsterdam Supporting partner: Shire

PhD theses from this project

“TI Pharma has developed frameworks in which academia and industry bring their ideas together and they work on the best ideas together.”

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