Clinical trials: Glycogen Storage Disease
Alpha-Thalassemia, Beta-Thalassemia
FLOWER: Following Longitudinal Outcomes With Epidemiology for Rare Diseases
FLOWER is a completely virtual, nationwide, real-world observational study to collect, annotate, standardize, and report clinical data for rare diseases.
- Conditions
- Alpha-Thalassemia, Beta-Thalassemia, Amyloidosis, Amyotrophic Lateral Sclerosis
- Trial name
- NCT06539169
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- xCures
Pompe Disease, Glycogen Storage Disease Type II (GSD-II)
High Dose or High Dose Frequency Study of Alglucosidase Alfa
Pompe disease (also known as glycogen storage disease Type II) is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (GAA).
- Conditions
- Pompe Disease, Glycogen Storage Disease Type II (GSD-II), Glycogenesis 2 Acid Maltase Deficiency
- Trial name
- NCT00483379
- Testing
- alglucosidase alfa
- Where
- 11 sites in United States, Australia and 1 more
- Volunteers
- 13 people
- Sponsor
- Genzyme, a Sanofi Company
Glycogen Storage Disease, GSD Type 0A
Rare Glycogen Storage Diseases Natural History Study
The purpose of this study is to collect and study key medical data about several ultra-rare GSDs (Glycogen Storage Diseases) including, but not limited to, GSD types 0a, 0b, VII, X, XII, XIII, XV, PRKAG2 syndrome and Danon…
- Conditions
- Glycogen Storage Disease, GSD Type 0A, GSD Type 0B, GSD VII
- Trial name
- NCT06795152
- Testing
- No intervention
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- Duke University
Pompe's Disease
Prevalence of Heterozygote Mothers for Pompe's Disease Among Mothers Having Delivered in French Guiana
Given the high incidence of Pompe's Disease in French Guiana (100 times higher than in mainland France) the aim is to determine the prevalence of heterozygotes among women having just delivered in French Guiana who accepted that…
- Trial name
- DEPIPOMP2 (NCT02903654)
- Testing
- observational
- Volunteers
- 925 people
- Sponsor
- Centre Hospitalier de Cayenne
Duchenne Muscular Dystrophy, Pompe Disease (Late-onset)
Study Determining the Frequency of Duchenne Muscular Dystrophy and Late-onset Pompe Disease
This is a multicenter prospective non-drug screening study. The working period is 12 months. There is no research product to be followed or used in the study.
- Trial name
- VICTORIA (NCT04120168)
- Testing
- Laboratory Tests
- Where
- 51 sites in Turkey (Türkiye)
- Volunteers
- 590 people
- Sponsor
- Turkish Society of Pediatric Gastroenterology, Hepatology and Nutrition
Pompe Disease
Cognitive and Neurological Pathologies in Pompe Disease
The purpose of this study is to better understand the long-term health effects of Pompe disease and to determine if there are any abnormal changes in the brain and peripheral nerves.
- Trial name
- CNS (NCT04639336)
- Where
- United States
- Volunteers
- 45 people
- Sponsor
- Duke University
Danon Disease
The Natural History of Danon Disease
Danon disease (DD) is a rare, X-linked disorder associated with severe cardiomyopathy, and in many cases, skeletal myopathy, and cognitive impairment caused by mutations in the LAMP2 gene.
- Trial name
- NCT03766386
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- University of California, San Diego
Pompe Disease (Late-onset), Glycogen Storage Disease Type II (GSD-II)
A Placebo-Controlled Study of Safety and Effectiveness of Myozyme (Alglucosidase Alfa) in Patients With Late-Onset Pompe Disease
Pompe disease (also known as glycogen storage disease Type II) is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (GAA).
- Conditions
- Pompe Disease (Late-onset), Glycogen Storage Disease Type II (GSD-II), Acid Maltase Deficiency Disease, Glycogenosis 2
- Trial name
- NCT00158600
- Testing
- alglucosidase alfa
- Where
- 8 sites in United States, France and 1 more
- Volunteers
- 90 people
- Sponsor
- Genzyme, a Sanofi Company
Pompe Disease
Newborn Screening Assay of Pompe's Disease
The purpose of this study is to test the feasibility of a newborn screen assay for Pompe disease
- Trial name
- NCT01758354
- Testing
- Pompe disease newborn screening
- Where
- Taiwan
- Volunteers
- 236,536 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Pompe Disease (Late-onset)
ZIP Study-OL Study of Safety, PK, Efficacy, PD, Immunogenicity of ATB200/AT2221 in Pediatrics Aged 0 to < 18 y.o. w/LOPD
This is a Phase 3, open-label, multicenter study to evaluate the safety, PK, efficacy, PD, and immunogenicity of Cipaglucosidase Alfa/Miglustat treatment in enzyme replacement therapy (ERT)-experienced and ERT-naïve pediatric…
- Trial name
- NCT03911505
- Testing
- Cipaglucosidase Alfa, Miglustat
- Where
- 17 sites in United States, Australia and 4 more
- Volunteers
- 21 people
- Sponsor
- Amicus Therapeutics
Neuromuscular Disorders
Prospective Follow-up of Patients With Glycogen Storage Disease Type III
The aim of this study is to improve knowledge of natural history and methods of monitoring the evolution of Glycogen storage disease type III regarding the muscle and to study the prospective approach of large series of patients…
- Trial name
- PRO GSDIII (NCT01563705)
- Testing
- Different motor function tests, Manual dexterity assessment
- Where
- France
- Volunteers
- 30 people
- Sponsor
- Institut de Myologie, France
Danon Disease
Natural History of Danon Disease
This is a multicenter, international, non-interventional, natural history study designed to collect longitudinal retrospective clinical information on patients with Danon disease (DD).
- Trial name
- NCT05548855
- Testing
- Heart Transplant, Cardiac Assistive Device
- Where
- 15 sites in Czechia, France and 3 more
- Volunteers
- 59 people
- Sponsor
- Rocket Pharmaceuticals Inc.
Glycogen Storage Disease Type I, Glycogen Storage Disease Type IB
Effects of the Carbohydrate Counting Method on Blood Glucose Regulation, Quality of Life, Urinary Glc4 and Other Biomarkers in Children With GSD1
The goal of the study is to investigate the effects of carbohydrate counting training-administered to pediatric patients diagnosed with GSD 1a and 1b-on blood glucose regulation, quality of life, urinary glucotetrasaccharide…
- Conditions
- Glycogen Storage Disease Type I, Glycogen Storage Disease Type IB, Glycogen Storage Disease Type IA
- Trial name
- NCT07875023
- Where
- Turkey (Türkiye)
- Volunteers
- 8 people
- Sponsor
- Şükrü Arman AKSOY
Pompe Disease, Glycogen Storage Disease Type II
Safety and Efficacy of Recombinant Human Acid Alpha-Glucosidase in the Treatment of Classical Infantile Pompe Disease
Pompe disease is caused by a deficiency of a critical enzyme in the body called acid alpha glucosidase (GAA). Normally, GAA is used by the body's cells to break down glycogen (a stored form of sugar) within specialized structures…
- Conditions
- Pompe Disease, Glycogen Storage Disease Type II, Acid Maltase Deficiency Disease, Glycogenosis 2
- Trial name
- NCT00025896
- Testing
- recombinant human acid alpha-glucosidase (rhGAA)
- Where
- United States
- Volunteers
- 8 people
- Sponsor
- Genzyme, a Sanofi Company
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
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).
- Trial name
- NCT05196165
- Testing
- No Intervention
- Where
- 4 sites in United States, Netherlands
- Volunteers
- 14 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Pompe Disease
Observational Study for Subjects With Pompe Disease Undergoing Immune Modulation Therapies
Hypothesis: the effectiveness of treatment of Pompe Disease with rhGAA enzyme replacement therapy (ERT) is limited at least in part because patients develop antibodies against the provided rhGAA enzyme.
- Trial name
- NCT01451879
- Testing
- Rituximab, Miglustat
- Where
- United States
- Volunteers
- 11 people
- Sponsor
- University of Florida
Tarui Disease, Debrancher Deficiency
The Effect of Triheptanoin on Fatty Acid Oxidation and Exercise Tolerance in Patients With Glycogenoses
The aim of this study is to investigate the effect of 14 days of treatment with the dietary oil-supplement Triheptanoin on fat metabolism and exercise tolerance in patients with Phosphofructokinase deficiency, Debrancher…
- Conditions
- Tarui Disease, Debrancher Deficiency, GYG1 DEFICIENCY
- Trial name
- NCT03642860
- Testing
- Triheptanoin
- Where
- Denmark
- Volunteers
- 3 people
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Late Onset Pompe Disease, Pompe Disease
Search for Serum/Plasma Biomarkers in Pompe's Disease
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.
- Trial name
- BIOPOMPE (NCT03045042)
- Testing
- Enzyme Replacement Agent
- Where
- Spain
- Volunteers
- 35 people, healthy volunteers welcome
- Sponsor
- Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
Glycogen Storage Disease Type IA
Retrospective Study of Glucose Monitoring for Glycemic Control in Patients With GSDIa
The primary objective of this study is to assess the percentage of time patients were in normal glucose control.
- Trial name
- NCT04708015
- Testing
- No Intervention
- Where
- 2 sites in United States, Netherlands
- Volunteers
- 15 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Glycogen Storage Disease Type II Infantile Onset
A Study to Evaluate the Safety, Efficacy, PK, PD and Immunogenicity of Cipaglucosidase Alfa/Miglustat in IOPD Subjects Aged 0 to <18
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.
- Trial name
- ROSSELLA (NCT04808505)
- Testing
- Cipaglucosidase alfa, Miglustat
- Where
- 14 sites in United States, Germany and 4 more
- Volunteers
- 36 people
- Sponsor
- Amicus Therapeutics