58 results
The objectives of this open-label study are to evaluate the efficacy (GL-3 clearance), pharmacokinetics (PK), and safety parameters (including immunogenicity) for 2 alternative dose regimens of Fabrazyme (0.5 mg/kg every 2 weeks [q2w] and 1.0 mg/kg…
The objective of the study is to establish the effect of genestein in patients with MPS III on urinary and serum GAGs levels, hair morphology, GAG accumulation in skinbiopsy, cognitive functions and behavior (Piotrowska et al, 2008). MPS III is a…
1. To include the patients* point of view in the characterization and description of the mucopolysaccharidoses; and to compare between the different types of mucopolysaccharidoses.2. To assess *health damage* at the moment of diagnosis, in order to…
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…
To determine the effect of ageing on bone marrow fat fraction as assessed by QCSI measurements
To evaluate the long-term safety and efficacy of BMN 110 administration at 2.0 mg/kg/qw and 2.0 mg/kg/qow in patients with MPS IVA.
2.1 Primary Objectives: 1) To test the feasibility of the six minute assisted leg and arm cycling test in patients aged 6-18 years with Duchenne muscular dystrophy (DMD), Beckers muscular dystrophy (BMD), Limb Girdle muscular dystrophy (LGMD),…
Primary :to assess the mass balance profile (i.e., excretion in urine and feces) of a single dose of AT1001 using 14C-labeled AT1001to characterize the absorption and elimination profiles of a single dose of AT1001 using 14C-labeled AT1001to…
The primary objectives of this study is:* To determine the safety and tolerability of rhHNS via ascending doses administered via a surgically implanted intrathecal drug device (IDDD) once monthly for 6 months, in patientswith MPS IIIA.The secondary…
Primary objective:The validation of the conchotome percutaneous muscle biopsy to measure ATP production in patients suspected of mitochondrial disease.Secondary objectives:The validation of the conchotome percutaneous muscle biopsy to measure…
The objective of the study is to establish the effect of genestein in patients with MPS III on urinary and serum GAGs levels, hair morphology, GAG accumulation in skinbiopsy, cognitive functions and behavior (Piotrowska et al, 2008).MPS III is a…
1. To obtain knowledge about the nutritional status of adult patients with mitochondrial disease and the determinants that contribute to this.2. Evaluate the effect of dietary intervention in adult patients with mitochondrial disease on nutritional…
The primary objective of this study is to assess the relation between the short term metabolic changes after start of rhGH therapy and the long term change in height SDS after one and two years of treatment. Secondly, we want to assess the effects…
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…
The primary objectives are: 1. To assess BBB integrity in MPS IIIB patients by estimating the CSF AI.2. To determine the BBB transfer coefficient by DCE-MRI in MPS IIIB patients.The secondary objectives are: 1. To describe the relationship between…
Primary ObjectiveThe primary objective of this study is to evaluate glycogen clearance in muscle tissue samples collected pre and post alglucosidase alfa treatment in patients with late-onset Pompe disease.Secondary ObjectivesThe secondary…
The objective of this extension study is to assess the long-term safety and efficacy of Myozyme treatment in patients with Late-Onset Pompe Disease who were previously treated under the placebo-controlled, double-blind study AGLU02704.
To evaluate the effects of short term supplementation of Phe to levels comparable to levels observed in adult patients who fully discontinued their diet on neuropsychological functions and wellbeing of adult patients with PKU.
Using a nighttime sleep recorder, we want to answer the following questions:1. description of sleep quality (duration, efficiency and structure of various stages of sleep)2. quantification of specific sleep disturbances (RLS, OSAS and periodic limb…
The goal of this study is to answer the following questions:1. Is the chance of detecting mtDNA mutations in blood or urine sediment as high as in a (much more invasive) skeletal muscle biopsy sample?2. What is the prevalence of renal failure in…