16 results
Primary objective is to objectively investigate the therapeutic potential of Ivacaftor in Dutch CF patients carrying a mutation associated with residual CFTR function. A secondary objective is to evaluate the correlations between individual…
Primary objective: To show that the variability of whole blood total and unbound plasma tacrolimus concentrations during the first 6 days post transplantation is larger than the variation of tacrolimus concentrations in stable clinical situation.…
The primary objective is to evaluate the safety of ReFacto AF in previously untreated patients (no prior exposure to factor products or any blood products) of less than 6 years of age.
1. What are the effects of cinacalcet on clinical and biochemical parameters, including bone turnover markers, in patients with primary hyperparathyroidism due to a MEN-I mutation?2. What are the effects of cinacalcet on bone mineral density and…
Evaluate whether FVIII/VWF concentrates successfully induce immune tolerance in patients who have already experienced and failed immune tolerance induction with VWF-free FVIII concentrates.
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…
A Cross-sectional Study of Renal Function in Treatment-naïve, Young Male Patients with Fabry Disease
The objectives of this study are (1) to document renal function and other Fabry disease manifestations across age in treatment-naïve, young male patients with Fabry disease; and (2) to provide a reference group for comparison with interventional…
To show that an individually tailored treatment of the calf muscles with BTX-A promotes the balance capacity and mobility of HSP patients by an effective reduction of spasticity while preserving muscle strength. This explorative study uses a pre-…
The objective of the study is two-fold:First, we want to improve the design of the study for future extension, by critical evaluation of the efficacy, the instruments used and the outcome measures. Second, we want to assess the cognitive and…
The objective of the study is to investigate the long-termeffects of lithium on the development of children who are exposed to lithium during pregnancy.
The objective of this study is to examine the effect of riluzole on the glutamate/GABA balance in the brain in patients with 22q11.2DS. The secondary objective is to examine the effects of riluzole on psychotic symptoms and cognitive functioning. In…
This study aims to evaluate the PK profile and IIV of drug exposure in plasma in children (aged 6-17 years) receiving (elexacaftor-)tezacaftor-ivacaftor. Secondary objectives are to evaluate the relationship between covariates and PK parameters that…
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…
In this study, we want to investigate the effect of the change in co-medication from lumacaftor to tezacaftor on the kinetics and exposure levels of ivacaftor described by the through concentrationsPrimary Objective: - the through concentration of…
To study the effect of crizanlizumab on the hemodynamics of the cerebral vasculature (CBF and CVR)
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…