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Glycogen Storage Disease clinical trials

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NCT ID: NCT06130228 Not yet recruiting - Obesity Clinical Trials

Nutritional Therapy in Late-onset Pompe Disease

PDT-MIS
Start date: April 1, 2024
Phase: Phase 2
Study type: Interventional

RATIONALE: Pompe disease (PD) is a recessive genetic disorder wherein the body cannot break down glycogen due to a mutation in the acid alpha glucosidase (GAA) gene, which encodes for acid alpha-glucosidase. The adult/late onset form (LOPD) leads to glycogen accumulation and autophagic buildup, causing progressive muscle weakness that leads to wheelchair dependence, reduced quality of life and premature death due to cardiorespiratory insufficiency. While nutritional strategies, such as the low carbohydrate/high protein and ketogenic diets, have been used clinically, they are difficult to maintain and have limited benefits. Multi-ingredient supplementation (MIS) allows for targeting of several underlying pathogenic pathways and may be more convenient than traditional dietary strategies, thereby improving both adherence and LOPD pathology.

NCT ID: NCT05960617 Recruiting - Clinical trials for Glycogen Storage Disease Type IB

Efficacy and Safety of Empagliflozin in GSD-Ib Patients

Start date: July 15, 2023
Phase: Phase 2
Study type: Interventional

Empagliflozin Treatment of GSD-1b patients

NCT ID: NCT05951790 Recruiting - Clinical trials for Glycogen Storage Disease Type II

Inspiratory Muscle Training (IMT) in Adult People With Pompe Disease

LOPD01
Start date: March 1, 2023
Phase: N/A
Study type: Interventional

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

NCT ID: NCT05915910 Recruiting - Clinical trials for Glycogen Storage Disease Type IB

Prospective Collection of Biospecimen in Pediatric Patients and Adult Guardians Diagnosed With Glycogen Storage Disease Type 1B (GSD1b)

Start date: April 27, 2023
Phase:
Study type: Observational

The primary objective of this study is to collect whole blood from patients diagnosed with Glycogen storage disease type 1B, which will be used to support the investigation of potential therapies that address the genetic basis of this disease.

NCT ID: NCT05687474 Recruiting - Cystic Fibrosis Clinical Trials

Baby Detect : Genomic Newborn Screening

Start date: September 1, 2022
Phase:
Study type: Observational

Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions. With a simple blood test, rare genetic conditions can be easily detected, and the early start of transformative treatment will help avoid severe disabilities and increase the quality of life. Baby Detect Project is an innovative NBS program using a panel of target sequencing that aims to identify 126 treatable severe early onset genetic diseases at birth caused by 361 genes. The list of diseases has been established in close collaboration with the Paediatricians of the University Hospital in Liege. The investigators use dedicated dried blood spots collected between the first day and 28 days of life of babies, after a consent sign by parents.

NCT ID: NCT05200702 Recruiting - Clinical trials for Muscular Dystrophies

Assessment of Safety and Acute Effects of a Knee-hip Powered Soft Exoskeleton in Patients With Neuromuscular Disorders

Exo-NMD1
Start date: January 5, 2022
Phase: N/A
Study type: Interventional

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.

NCT ID: NCT05199246 Recruiting - Clinical trials for Muscular Dystrophies

Assessment of Safety and Acute Effects of a Lower-limb Powered Dermoskeleton in Patients With Neuromuscular Disorders

Exo-KGO1
Start date: December 1, 2021
Phase: N/A
Study type: Interventional

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.

NCT ID: NCT05196165 Terminated - Clinical trials for Glycogen Storage Disease Type III

Clinical Survey Study to Assess Physical Function and the Incidence of Hypoglycemia in Participants With Glycogen Storage Disease Type III

Start date: May 20, 2022
Phase:
Study type: Observational

The primary objective of this study is to evaluate the incidence of hypoglycemia in adult and pediatric participants with glycogen storage disease type III (GSD III).

NCT ID: NCT05164055 Active, not recruiting - Clinical trials for Glycogen Storage Disease Type II

Avalglucosidase Alfa French Post-trial Access for Participants With Pompe Disease (PTA Avalglucosidase)

Start date: July 11, 2022
Phase: Phase 4
Study type: Interventional

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

NCT ID: NCT05139316 Active, not recruiting - Clinical trials for Glycogen Storage Disease Type IA

A Study of Adeno-Associated Virus Serotype 8-Mediated Gene Transfer of Glucose-6-Phosphatase in Patients With Glycogen Storage Disease Type Ia (GSDIa)

Start date: November 8, 2021
Phase: Phase 3
Study type: Interventional

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.