Search for a trial

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…

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*…

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 Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 110 in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome)

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.

Mapping the galactosemic brain: Finding the neural correlates of language impairments

To identify affected functional networks and underlying structural pathology of the cognition problems in galactosemia.

Validation of athe conchotome percutaneous technique to perform a muscle biopsy to measure biochemical parameters in mitochondrial disease

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…