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Natural course, effects of enzyme therapy and health economic aspects in patients with mucopolysaccharidosis type I, II and VI. Long-term folloe-up of untreated patients and patients receiving commercially available Aldurazyme, Elaprase and Naglazyme.

the objective of the current study is to evaluate the safety and efficacy of enzyme therapy in the Dutch population of patients with MPS I, II and VI; to compare this to the natural course of these diseases; to make an inventory of the direct and…

The effect of fibrate therapy in two patients with neutral lipid storage disease with myopathy (NLSDM).

We would like to evaluate the beneficial effects of fibrate treatment on muscle mitochondrial and cardiac function in patients with NLSDM.

An open-label, single-center, exploratory study of the safety and efficacy of avalglucosidase alfa in patients with non-classic Pompe disease aged >= 5 years.

This study has been transitioned to CTIS with ID 2024-518215-18-00 check the CTIS register for the current data. To explore safety, tolerability and efficacy of avalglucosidase alfa in previously treated alglucosidase alfa late-onset Pompe disease…

Treatment of Osteogenesis Imperfecta with Parathyroid hormone and Zoledronic acid

This study has been transitioned to CTIS with ID 2024-519705-36-00 check the CTIS register for the current data. The primary objective will be to investigate if a two-year course of TPTD followed by antiresorptive treatment with a single infusion of…

Long-term safety study of personalized cholic acid treatment in patients with bile acid synthesis defects

This study has been transitioned to CTIS with ID 2024-518652-23-00 check the CTIS register for the current data. Investigating the long-term safety of personalized cholic acid treatment in patients with defects in bile acid synthesis based on…