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Validity and feasibility of accelerometers for assessing habitual physical activity in children with mitochondrial disease.

Study i)Select the most valid and feasible accelerometer for measuring habitual physical activity in children with a mitochondrial disorderStudy ii)Measure the test-retest reliability of this instrument

Effect of sapropterin on variations of blood phenylalanine and tyrosine over 24 hours and from day to day in patients with phenylketonuria

Primary objective- To measure the effect of sapropterin on diurnal and day to day variations of blood phenylalanine concentrations.Secondary objective- To measure the effect of sapropterin on diurnal and day to day variations of blood tyrosine…

A pilot study to explore plasma abnormalities as possible biomarkers in patients with acid sphingomyelinase deficiency (ASMD)

Primary objectiveTo investigate the presence of plasma abnormalities in treated and untreated patients with ASMD to determine whether they can potentially serve as useful biomarker . Therefore we will determine- sphingolipids and *metabolites-…

Using D-Galactose as a food supplement in Congenital Disorders of Glycosylation (CDG)

The goal of this study is to better characterize the metabolic alterations and sugar structure alterations (glycosylation abnormalities) in patients diagnosed with Congenital Disorders of Glycosylation.

An Open-Label Extension of Study HGT-SAN-055 Evaluating Long Term Safety and Clinical Outcomes of Intrathecal Administration of rhHNS in Patients with Sanfilippo Syndrome Type A (MPS IIIA)

The primary objectives of this study are: • To determine the longterm safety and tolerability of rhHNS administered via an intrathecal (IT) route once monthly for 8 years in patients with MPS IIIA, who have received and tolerated 6 months of…

A PHASE 4 PROSPECTIVE EXPLORATORY MUSCLE BIOPSY, BIOMARKER, AND IMAGING ASSESSMENT STUDY IN PATIENTS WITH LATE-ONSET POMPE DISEASE TREATED WITH ALGLUCOSIDASE ALFA.

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…

Prospective study on the metabolic and linear growth effects of growh hormone treatment in children with Kabuki Syndrome

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 Phase I/II Safety, Tolerability, Ascending Dose and Dose Frequency Study of Recombinant Human Heparan-N-sulfatase (rhHNS) Intrathecal Administration via an Intrathecal Drug Delivery Device in Patients With Sanfilippo Syndrome Type A (MPS IIIA)

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…

A Multicenter, Multinational, Longitudinal Clinical Assessment Study of Subjects with Mucopolysaccharidosis IVA (Morquio Syndrome).

The objective of the study is to quantify endurance and respiratory function in subjects with MPS IV A and to better characterize the spectrum of symptoms and biochemical abnormalities in MPS IV A disease over time.

A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multinational Clinical Study to Evaluate the Efficacy and Safety of 2.0 mg/kg/week and 2.0 mg/kg/every other week BMN 110 in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome)

This study will evaluate the efficacy and safety of 2.0 mg/kg/week and 2.0 mg/kg/every other week BMN 110 in patients with mucopolysaccharidosis IVA (Morquio A Syndrome). This study will compare the effects of 24 weeks of infusions of BMN 110 at…

An open-label phase 2A study to investigate drug-drug interactions between AT1001 (migalastat hydrochloride) and agalsidase in subjects with Fabry disease.

The primary objectives of this study are: * To characterize the effects of 150 mg and 450 mg of AT1001 administered 2 hours before administration of agalsidase on the safety and plasma pharmacokinetics of agalsidase in subjects with Fabry Disease*…

An Efficacy and 2-Year Safety Study of Open-label Rosuvastatin in Children and Adolescents (aged from 6 to less than 18 years) with Familial Hypercholesterolaemia

Primary Objectives * To assess the efficacy of rosuvastatin in paediatric patients with familial hypercholesterolaemia. * To establish long-term safety, tolerability and efficacy of rosuvastatin in paediatric patients with familial…

Efficacy of dietary suppletion genestein in patients with the MPS III (A follow-up study)

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…

Quantitative Chemical Shift Imaging of the lumbar spine in healthy volunteers

To determine the effect of ageing on bone marrow fat fraction as assessed by QCSI measurements

6 minutes assisted leg and arm cycling test: feasibility, validity, test-retest responsivity and responsivity in patients with neuromuscular and metabolic disorders

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),…

A phase 1 study to investigate the absorption, metabolism and excretion of [14C] AT1001 (migalastat hydrochloride) following a single oral administration in healthy volunteers.

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…

A Randomized, Multicenter, Multinational, Phase 3B, Open-Label, Parallel-Group Study of Fabrazyme (agalsidase beta) in Treatment-Naive Male Pediatric Patients with Fabry Disease Without Severe Symptoms

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…

A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multi-Center Study
Confirming the Efficacy and Safety of Genz-112638 in Patients with Gaucher
Disease Type 1

The primary objective of this study is to confirm the efficacy and safety of Genz 112638 after 39 weeks of treatment in patients with Gaucher disease type 1.The secondary objective of this study is to determine the long term efficacy, safety, and…

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…

VKS/Erasmus MC Mucopolysaccharidosis Survey

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…