Clinical trials: Glycogen Metabolism
- Condition Glycogen Metabolism
- Funder type Industry (pharma, biotech, devices)
- Age group Children (under 18)
Pompe Disease
Expanded Access for ATB200/AT2221 for the Treatment of Pompe Disease
This is an expanded access program (EAP) for eligible participants designed to provide access to ATB200/AT2221.
- Trial name
- NCT03865836
- Testing
- ATB200, AT2221
- Sponsor
- Amicus Therapeutics
Pompe Disease (Late-Onset), Glycogen Storage Disease Type II (GSD-II)
Late-Onset Treatment Study Extension Protocol
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), Glycogenesis Type II, Acid Maltase Deficiency (AMD)
- Trial name
- NCT00455195
- Testing
- alglucosidase alfa
- Where
- 31 sites in United States, Australia and 3 more
- Volunteers
- 81 people
- Sponsor
- Genzyme, a Sanofi Company
Pompe Disease
A Global Prospective Observational Registry of Patients With Pompe Disease
This is a global, multicenter, prospective, observational registry of patients with Pompe disease, including those with late-onset pompe disease (LOPD) and infantile-onset pompe disease (IOPD).
- Trial name
- NCT06121011
- Testing
- Cipaglucosidase alfa, Miglustat, Alglucosidase alfa or Avalglucosidase alfa
- Where
- 41 sites in United States, Austria and 10 more
- Volunteers
- 500 people
- Sponsor
- Amicus Therapeutics
Pompe Disease
Safety/Tolerability/Pharmacokinetic (PK)/Pharmacodynamics (PD) Study of BMN701 in Patients With Late-Onset Pompe Disease
A Phase 1/2, open-label, multicenter, multiple dose escalation study of BMN 701 administered by intravenous infusion every 2 weeks over a 24-week treatment period to patients with late-onset Pompe disease.
- Trial name
- NCT01230801
- Testing
- BMN 701
- Where
- 10 sites in United States, Australia and 3 more
- Volunteers
- 22 people
- Sponsor
- BioMarin Pharmaceutical
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
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 (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
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.
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
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 Ia
Glycogen Storage Disease Type Ia (GSDIa) Disease Monitoring Program
The main objective of this observational study is to evaluate the long-term safety and effectiveness of DTX401 for at least 10 years after DTX401 administration.
- Trial name
- NCT06636383
- Testing
- No Intervention
- Where
- 19 sites in United States, Brazil and 7 more
- Volunteers
- 140 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Pompe Disease (Late-onset)
Evaluation of the Safety and Efficacy of Late-onset Pompe Disease Gene Therapy Drug
This study is being conducted to evaluate the safety and effectiveness of GC301 adeno-associated virus vector expressing codon-optimized human acid alpha-glucosidase (GAA) as potential gene therapy for Pompe disease.
- Trial name
- NCT06391736
- Testing
- GC301
- Where
- China
- Volunteers
- 33 people
- Sponsor
- GeneCradle Inc
Glycogen Storage Disease Type II
A Prospective, Observational Study in Patients With Late-Onset Pompe Disease
Pompe disease (also known as glycogen storage disease type II, "GSD-II") is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (GAA).
- Trial name
- NCT00077662
- Where
- 5 sites in United States, France and 1 more
- Volunteers
- 61 people
- Sponsor
- Genzyme, a Sanofi Company
Glycogen Storage Disease
A Study of mRNA-3745 in Adult and Pediatric Participants With Glycogen Storage Disease Type 1a (GSD1a)
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.
- Trial name
- NCT05095727
- Testing
- mRNA-3745
- Where
- 16 sites in United States, Canada and 4 more
- Volunteers
- 15 people
- Sponsor
- ModernaTX, Inc.
Pompe's Disease
Study to Evaluate Efficacy and Safety in Chinese Patients With Late Onset Pompe Disease With Alglucosidase Alfa Treatmen
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…
- Trial name
- APOLLO-LOPD (NCT04676373)
- Testing
- ALGLUCOSIDASE ALFA
- Where
- China
- Volunteers
- 41 people
- Sponsor
- Genzyme, a Sanofi Company
Glycogen Storage Disease Type III
Study to Evaluate Biomarkers and Clinical Manifestations in Individuals With Glycogen Storage Disease Type III (GSD III)
The primary objective of this study is to evaluate potential biomarkers of GSD III.
- Trial name
- NCT04574830
- Testing
- No Intervention
- Where
- 4 sites in United States
- Volunteers
- 18 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Antiphospholipid (aPL)-Positive, Rheumatic Arthritis
MENA/Levant Epidemiological, Registry of Immunological & Clinical Traits (MERIT)
The primary objective of this multicenter observational registry is to characterize the clinical, epidemiological, and biological profiles of individuals of Middle Eastern, North African, and Levantine ancestry, including…
- Conditions
- Antiphospholipid (aPL)-Positive, Rheumatic Arthritis, Celiac Disease, Focal Segmental Glomerulosclerosis (FSGS)
- Trial name
- MERIT (NCT07892651)
- Where
- Jordan
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- Axiom Bioregistry
Glycogen Storage Disease Type II
Avalglucosidase Alfa French Post-trial Access for Participants With Pompe Disease (PTA Avalglucosidase)
This long-term open label safety and efficacy study is intended to follow up, and to provide post-trial access to ERT with avalglucosidase alfa to patients with Pompe disease in France who have completed Study EFC14028, LTS13769…
- Trial name
- NCT05164055
- Testing
- Avalglucosidase alfa (GZ402666)
- Where
- 11 sites in France
- Volunteers
- 17 people
- Sponsor
- Genzyme, a Sanofi Company