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Glycogen Storage Disease Type II clinical trials

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NCT ID: NCT06178432 Not yet recruiting - Clinical trials for Pompe Disease (Late-onset)

Evaluation of the Safety, Tolerability and Efficacy of Gene Therapy Drug for Late Onset Pompe Disease (LOPD)

Start date: December 2023
Phase: Early Phase 1
Study type: Interventional

This is a single-center, single-arm, open-label, single-dose treatment clinical study to evaluate the safety, tolerability and efficacy of CRG003 injection in participants with late onset Pompe disease (LOPD), with a long-term follow-up period of 5 years. CRG003 (BBM-G102) injection is an adeno-associated virus (AAV) gene therapy product for treating Pompe disease to stably express active GAA enzyme in the liver on a long-term basis after the injection.

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: NCT05017402 Not yet recruiting - Clinical trials for Glycogen Storage Disease Type II

Higher Dose of Alglucosidase Alpha for Pompe Disease

Start date: September 1, 2021
Phase:
Study type: Observational

This study is aimed to investigate that whether the higher dose ERT improve safety and clinical outcomes of Pompe disease patients. Also, wish to develop a new therapeutic recommendation and hope that it could improve the long-term outcomes of Pompe diesease patients.

NCT ID: NCT03045042 Not yet recruiting - Pompe Disease Clinical Trials

Search for Serum/Plasma Biomarkers in Pompe's Disease

BIOPOMPE
Start date: April 2017
Phase: N/A
Study type: Observational

This study aims to analyze serum and plasma samples from patients with late onset Pompe disease treated and not treated with enzyme replacement therapy (ERT) to identify microRNA that could be specific of the disease. The investigators will correlate the concentration of these microRNA with several muscle function tests and quantitative muscle MRI to know whether they are good biomarkers of progression.

NCT ID: NCT02527239 Not yet recruiting - Pompe's Disease Clinical Trials

Prevalence of Pompe's Disease in Respiratory Clinics

PURF
Start date: September 2015
Phase: N/A
Study type: Observational

Pompe's disease is a very rare condition which causes weakness of the respiratory muscles and may therefore cause symptoms of breathlessness or even respiratory failure, requiring the use of a ventilator at night. Recently a treatment for this condition has become available as well as a simple diagnostic test. However, we believe it is possible that there are patients with this condition who are presently undiagnosed attending respiratory clinics. We would like to complete an observational study of patients with respiratory muscle weakness of an unknown cause, who are attending respiratory clinics at two London centres, to determine whether patients attending these services have undiagnosed Pompe's disease.

NCT ID: NCT01482494 Not yet recruiting - Pompe Disease Clinical Trials

Detection of Pompe Disease in Adult Patients With Myopathies of Uncertain Origin or With Asymptomatic Hyper-CK-emia

Start date: December 2011
Phase: N/A
Study type: Observational

The adult onset form can occur between the second and sixth decades of life as a form of proximal myopathy, predominantly in the pelvic girdle area. Sometimes the first symptoms are shortness of breath and diaphragm weakness which herald progressive proximal muscle weakness. The heart and liver are not affected. Serum CK (Creatine Kinase) activity is 2 to 10 times higher than normal. EMG (electromyogram) testing usually reveals a myopathic pattern and muscle biopsy may show vacuoles containing an accumulation of glycogen that is not broken down. Until fairly recently, an assay of acid maltase activity using cultured fibroblasts after biopsy of skin or muscle tissue was required for diagnosis, as leukocytes contain a renal isoenzyme that is not absent in these patients and which can mask the deficit and result in false negatives. In recent years this problem has ben solved by the introduction of acarbose, an inhibitor of renal α-glucosidase; it is also used in the dried blood spot method, which measures acid maltase activity using maltose and acarbose as inhibitors and 4-methylumbelliferyl-D-glucopyranoside as substrate.

NCT ID: NCT01409486 Not yet recruiting - Pompe Disease Clinical Trials

Screening for Early Detection and Prevention of Pompe Disease in Israel Using Tandem Mass Spectrometry

LC-MS-MS
Start date: September 2011
Phase: N/A
Study type: Observational

The aim of the study is: to develop a comprehensive biochemical assay for detection of Pompe disease (glycogen storage disease type II), to be implemented in the Newborn screening program among the Israeli population.