Search for a trial

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…

An Open-Label Extension Study of Patients with Late-Onset Pompe Disease Who Were Previously Enrolled in Protocol AGLU02704

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.

Ferriprive anemia in patients with erythropoietic protoporphyria

To investigate the prevalence of anemia in EPP patients, related to the severity of symptoms and to investigate the cause of this anemia.

A Phase 2/3, Double-Blind, Randomized, Placebo-Controlled, Multi-center, International Study to Evaluate the Efficacy and Safety of Oxabact(TM) to Reduce Urinary Oxalate in Subjects with Primary Hyperoxaluria.

Primary Objective:To evaluate the efficacy of Oxabact TM to reduce urinary oxalate levels from Baseline to Week 24 in subjects with Primary Hyperoxaluria (PH).Secondary Objectives:To evaluate:* Percentage of subjects who have 20% or greater…

Creatine transporter defect in females.

1. Define the clinical spectrum in female carriers of creatine transporter defect. 2. Correlate the clinical phenotype with X-inactivation studies.

Sleep disturbances in chronic progressive external ophthalmoplegia

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…

Renal involvement in chronic progressive external ophthalmoplegia

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…

Effects of short term increase of phenylalanine levels
on neuropsychological functions and well-being
in adults with phenylketonuria: the *diet for life* study

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.

Effects and health economic aspects of enzyme therapy in children and adults with Pompe disease. Long-term follow-up of patients receiving commercially available Myozyme

This study has been transitioned to CTIS with ID 2024-518269-92-00 check the CTIS register for the current data. The objective of the study is to gather more information about the long-term effect of enzyme therapy in patients with Pompe disease…