Research

The research of SPHINX-members has broadened in recent years. With respect to LSDs, SPHINX-members participate in various clinical studies regarding novel therapeutics as well as improvements of existing therapies. Laboratory diagnostic activities cover nowadays the whole spectrum of lysosomal disorders, and besides sphingolipidoses also mucopolysaccharidoses, in particular MPS1, III and IV, have become topic of patient care and clinical and laboratory research.

Clinical research has focussed on the natural history of these disorders as well as the effectiveness of novel therapeutics. Participation in multicenter clinical trials for Fabry disease and Niemann Pick disease is ongoing.

Importantly, non-industry sponsored studies are carried out to touch on relevant clinical issues that have less commercial priority such as the comparison of competitive treatments, dosing studies, the impact of antibody formation, studying long term complications as well as reasons for failure of treatment. For a number of these studies, collaborations with several European partners were established. Studies on the application of novel instruments, such as imaging, to assess disease severity is also focus of research. In addition, socio-economic implications of the costly treatments are an area of interest, resulting in, amongst others, studies on the appropriate use of these treatments.

For the identification of novel biomarkers, advanced proteomics techniques and metabolite analyses are in place and these play increasingly a role in fundamental research and patient care.

A comprehensive overview of research activities of SPHINX-members is available at this website.

Corona-maatregelen

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