View clinical trials related to Glycogen Storage Disease Type II.
Filter by: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
Primary Objective: To evaluate the effect of one-year Alglucosidase alfa treatment on motor function [Six-minute walk test (6MWT) and lung function predicted Forced vital capacity (FVC)] among Chinese Late Onset Pompe Disease patients above 5 years old. To evaluate the safety of Myozyme 20mg/kg, IV biweekly in Chinese LOPD patients above 3 years old. Secondary Objective: To evaluate the effect of one-year treatment with Alglucosidase alfa on improvement of manual muscle test (MMT), Maximal inspiratory and expiratory pressure (MIP and MEP)], Quick Motor Function Test scores, and health-related quality of life (SF-12) among LOPD patients over 5 years old.
This is a multicenter, international open-label extension study of ATB200/AT2221 in adult subjects with late-onset Pompe disease (LOPD) who completed Study ATB200-03.
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 is an observational study with no study related treatment of interventions. The purpose of the study is to investigate and document disease specific clinical symptoms in newborns, infants and children with Pompe disease without cardiomyopathy identified in newborn screening(NBS). There will be baseline, months 6 and months 12 visits for infants and newborns (infants study). For children of ages 24 months to 54 months, there will be baseline, year 1 and year 2 visits (children study). The study has four goals: 1. To study and record disease specific clinical symptoms in newborns, infants and children with Pompe disease without cardiomyopathy (disease of the heart muscle) in the first year of life identified through newborn screening (NBS) 2. To devise an approach to characterize early musculoskeletal (muscles and joints) involvement in subjects with the "late-onset" GAA variant identified by NBS including ability to collect research information via virtual health platforms. 3. To determine criteria to start preventative therapies including enzyme replacement therapy (ERT) in patients with clinical features of Pompe disease identified via NBS 4. To document parental coping and anxiety/emotional distress overtime using quality of life questionnaires after a child is diagnosed with late onset Pompe disease via NBS
Open-label, ascending dose trial of ACTUS-101 administered intravenously.
Primary Objective: To evaluate the safety profile of avalglucosidase alfa in participants with infantile-onset Pompe disease previously treated with alglucosidase alfa. Secondary Objective: To characterize the pharmacokinetic profile of avalglucosidase alfa and to evaluate the preliminary efficacy of avalglucosidase alfa in comparison to alglucosidase alfa.
This study is an international, multi-center, study of Pompe disease patients that are currently receiving enzyme-replacement therapy (ERT). The purpose of this study is to find out if the co-administration of investigational new drugs ATB200 and AT2221 is safe in adults with Pompe disease.
This study aims to characterize the pathophysiological mechanisms of 21 different metabolic myopathies. The study will focus on exercise capacity and the metabolic derangement during exercise.