Workpackage 2

Natural history of lysosomal diseases and enzyme replacement therapy

Leader of the WP is Arnold J.J. Reuser from the Erasmus Medical Center (Rotterdam, The Netherlands).

Although natural history studies have been published for some PD, GD and MPS VI patients, many aspects are still insufficiently known including age and condition at onset of therapy in relation to outcome, recombinant enzyme dose regimens, immune reaction to exogenous enzymes, availability of biomarkers and pathological markers of enzyme replacement therapy (ERT) efficacy.

In this WP specific attention will be given to the natural history of three LSDs (namely PD, GD and MPS VI), essential for the evaluation of long-term ERT efficacy and potential alternative treatments. This will provide tools to develop standardized European protocols for follow-up and treatment of these diseases, and to further validate the information available until now on the therapeutic outcome.