Active clinical trials for "Glycogen Storage Disease"

The goal of this multicentre, randomized and controlled cross-over trial is to evaluate the efficacy of a programme of Inspiratory Muscle Training in subjects with Late On-set Pompe Disease (LOPD). The main question is to: verify changes in Forced Vital Capacity, Postural Drop, Maximal Inspiratory Pressure, Maximal Expiratory Pressure, Peak expiratory cough pressure, Maximal Inspiratory Capacity, six- minute walk test and or 6-minute pegboard ring test.- measure changes in some questionnaries investigating dispnoea and quality of life (Short-Form 36, Individualized-Neuromuscular-Quality-of-Life, Maugeri-Respiratory-Failure 28, Borg scale, Dispnoea 12, Mulditimensional Dispnea Profile, modified Medical Research Council, Fatigue Severity Scale, Epsworth Scale, Visual Analogue Scale). Measurement will take place at baseline and after one, three, four, six and twelve months. Participants will undergo a specific treatment consisting of aerobic exercise and Inspiratory Muscle Training with Powerbreathe device or Air-Stacking. Researchers will study if Powerbreathe device is more effective than Air-stacking maneuvres

Empagliflozin Treatment of GSD-1b patients

The main goal of this trial is to evaluate the safety and tolerability of mRNA-3745 via intravenous (IV) administration in adult and pediatric participants with GSD1a.

This is a single group, treatment, Phase 3, open-label study to assess efficacy, safety, pharmacokinetic (PK), pharmacodynamics (PD) of avalglucosidase alfa in treatment-naïve male and female participants with IOPD. Study details include: Study duration: Screening - up to 4 weeks; Primary Analysis Period (PAP) - 52 weeks; Extended Treatment Period (ETP) - 52 weeks; Extended Long term Treatment Period (ELTP) - 104 weeks; 4-week follow-up period for a total study duration - up to 4.08 years. Treatment duration: Up to 4 years Visit frequency: every other week and potentially every week

This is a Phase 3, open-label, multicenter study to evaluate the safety, efficacy, PK, PD, and immunogenicity of cipaglucosidase alfa/miglustat treatment in ERT-experienced and ERT-naïve pediatric subjects with IOPD.

The aims of the current study are as follow: i) Evaluate the safety, usability, and acute efficiency of a powered knee-hip dermoskeleton (MyoSuit, MyoSwiss, Zurich, Switzerland) in patients with neuromuscular disorders, ii) Elaborate recommendations regarding usability criteria for safe and efficient use the device in patients with neuromuscular disorders (e.g. type and severity of patient's functional deficits), iii) generate necessary data to foresee a future study involving a home use of the device and assessment of long-term benefits.

The aims of the current study are as follow: i) Evaluate the safety, usability, and acute efficiency of a programmable ambulation exoskeleton (KeeogoTM Dermoskeleton System, B-Temia Inc., Quebec, Canada) in patients with neuromuscular disorders, ii) Elaborate recommendations regarding usability criteria for safe and efficient use the device in patients with neuromuscular disorders (e.g. type and severity of patient's functional deficits), iii) generate necessary data to foresee a future study involving a home use of the device and assessment of long-term benefits.

The purpose of this study is to evaluate the safety, tolerability, and efficacy of a single intravenous infusion of SPK-3006 in adults with clinically moderate, late-onset Pompe disease receiving enzyme replacement therapy (ERT). Participants will be treated in sequential, dose-level cohorts.

This long-term open label safety and efficacy study is intended to follow up, and to provide post-trial access to enzyme replacement therapy (ERT) with avalglucosidase alfa to patients with Pompe disease in France who have completed Study EFC14028, LTS13769, or ACT14132, from market authorization until reimbursement of avalglucosidase alfa in France or until December 2024, whichever comes first. - Study visit frequency: every 2 weeks

The primary objectives of this study are to evaluate the efficacy of DTX401 to reduce or eliminate dependence on exogenous glucose replacement therapy to maintain euglycemia and to maintain or improve the quality of glucose control.