Clinical trials: Glycogen Metabolism
Glycogen Storage Disease Type IA, Glycogen Storage Disease Type I
Accuracy of Home Lactate Meter and Accu-chek Glucometer in Patients With Glycogen Storage Disease
The goal of this study is to determine if the Lactate Plus meter is accurate compared to lab lactate levels, and to determine if the Accu chek guide glucometer is accurate compared to lab serum glucose levels in patients with…
- Conditions
- Glycogen Storage Disease Type IA, Glycogen Storage Disease Type I, Glycogen Storage Disease Type IB, Glycogen Storage Disease Xi
- Trial name
- NCT07459582
- Testing
- Lactate Meter, Accu Chek
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Connecticut Children's Medical Center
Pompe Disease
Clinical Specimen Collection From Pompe Disease Patients
Clinical specimens are required from individuals with Pompe Disease to support process and analytical development for a genetically modified autologous bone marrow cell product currently in preclinical research, FTX-PD01.
- Trial name
- NCT04476550
- Testing
- Filgrastim
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Serhat Gumrukcu, MD PhD
Pompe Disease
Study to Evaluate the Safety of AT2220 (Duvoglustat) in Pompe Disease
The main purpose of this study was to determine the safety and tolerability of 3 different doses of duvoglustat (AT2220) in participants affected by Pompe disease.
- Trial name
- NCT00688597
- Testing
- Duvoglustat
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Amicus Therapeutics
Glycogen Storage Disease Type IV, Adult Polyglucosan Body Disease
GBE Deficiency (GSD IV and APBD) Natural History Study
Collection and review of clinical information related to glycogen branching enzyme (GBE) deficiency, diagnosed as Glycogen Storage Disease Type IV (GSD IV) or Adult Polyglucosan Body Disease (APBD generated during clinic visits.
- Conditions
- Glycogen Storage Disease Type IV, Adult Polyglucosan Body Disease, GSD4, GSD IV
- Trial name
- NCT02683512
- Testing
- No intervention
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- Duke University
Cardiac Glycogenosis, Cardiomyopathy
ATR 1072 in Participants With PRKAG2 Syndrome
ATR 1072 is an investigational medicine being studied in adults with PRKAG2 Syndrome. This study will evaluate the safety of ATR 1072 and how the body processes the drug.
- Conditions
- Cardiac Glycogenosis, Cardiomyopathy, Hypertrophic, Wolff-Parkinson-White Syndrome
- Trial name
- NCT07738107
- Testing
- ATR 1072
- Where
- United States
- Volunteers
- 37 people
- Sponsor
- Atrium Therapeutics
Glycogen Storage Disease Type I
Dietary Treatment Strategies and Metabolic Control in Glycogen Storage Disease Type I
The present project will specifically assess metabolic effects of dietary interventions with controlled intake of fructose and fructose/galactose in GSDI, with the aim to provide evidence whether relaxed dietary restrictions of…
- Trial name
- GSD-DIET (NCT06852612)
- Testing
- Fructose, Fructose and galactose
- Where
- 2 sites in Switzerland
- Volunteers
- 20 people
- Sponsor
- Insel Gruppe AG, University Hospital Bern
Glycogen Storage Disease Type II, Pompe Disease
Pompe Disease Registry Protocol
The Pompe Registry is a global, multicenter, international, longitudinal, observational, and voluntary program for patients with Pompe disease, designed to track the disease's natural history and outcomes in patients, both…
- Trial name
- NCT00231400
- Where
- 282 sites in United States, Argentina and 42 more
- Volunteers
- 2,000 people
- Sponsor
- Genzyme, a Sanofi Company
Wet Age-related Macular Degeneration
Comparing Efficacy of 8-Week and 12-Week Faricimab Initial Follow-Up Treatment Intervals
This is a prospective, randomized study that compares 8-week and 12-week follow-up intervals after the 4 monthly injections in the loading phase.
- Trial name
- NCT06875245
- Testing
- Faricimab Injection
- Where
- Czechia
- Volunteers
- 100 people
- Sponsor
- Faculty Hospital Kralovske Vinohrady
Late-onset Pompe Disease
A Study to Evaluate the Safety, Pharmacokinetics, and Pharmacodynamics of DNL952 in Adult Participants With Late-Onset Pompe Disease
This is a Phase 1, multicenter, open-label study to evaluate the safety, tolerability, pharmacokinetics (PK), and pharmacodynamics (PD) of DNL952 in adult participants with late-onset Pompe disease.
- Trial name
- NCT07354724
- Testing
- DNL952
- Where
- 4 sites in United States
- Volunteers
- 32 people
- Sponsor
- Denali Therapeutics Inc.
Pompe Disease
A Long Term Follow up Study in Late-onset Pompe Disease
This study is to observe the progression of disease in late-onset Pompe disease
- Trial name
- NCT00713245
- Where
- Taiwan
- Volunteers
- 70 people
- Sponsor
- National Taiwan University Hospital
Pompe Disease, Pompe Disease (Late-onset)
A Gene Transfer Study for Late-Onset Pompe Disease (RESOLUTE)
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).
- Conditions
- Pompe Disease, Pompe Disease (Late-onset), Glycogen Storage Disease Type 2, Glycogen Storage Disease Type II
- Trial name
- NCT04093349
- Testing
- SPK-3006
- Where
- 29 sites in United States, Canada and 6 more
- Volunteers
- 4 people
- Sponsor
- Spark Therapeutics, Inc.
Pompe Disease
Safety Study of Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase to Treat Pompe Disease
Pompe disease is an inherited condition of acid alpha-glucosidase (GAA) deficiency resulting in lysosomal accumulation of glycogen in all tissues. Glycogen accumulation leads to muscle dysfunction and profound muscle weakness.
- Trial name
- NCT00976352
- Testing
- rAAV1-CMV-GAA (study agent) Administration, RMST
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- University of Florida
Glycogen Storage Disease Type II
Higher Dose of Alglucosidase Alpha for Pompe Disease
This study is aimed to investigate that whether the higher dose ERT improve safety and clinical outcomes of Pompe disease patients.
- Trial name
- NCT05017402
- Testing
- Alglucosidase Alfa
- Volunteers
- 36 people
- Sponsor
- Taipei Veterans General Hospital, Taiwan
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's Disease
Prevalence of Pompe's Disease in Respiratory Clinics
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.
- Trial name
- PURF (NCT02527239)
- Testing
- Prospective observational study
- Volunteers
- 400 people
- Sponsor
- Royal Brompton & Harefield NHS Foundation Trust
Glycogen Storage Disease
Lingual Muscle Training in Late-Onset Pompe Disease (LOPD)
This study is being done to test the effects of Lingual Muscle Therapy (LMT) in patients with Late-Onset Pompe Disease (LOPD) who have tongue weakness.
- Trial name
- NCT03255213
- Testing
- Lingual Muscle Training
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- Duke University
Pompe Disease
Investigating Pompe Prevalence in Neuromuscular Medicine Academic Practices
The incidence of type II glycogen-storage disease (Pompe disease) varies depending on ethnicity and geographic region. As of 2010, nine studies have been published documenting the incidence of Pompe disease.
- Trial name
- IPANEMA (NCT02838368)
- Where
- United States
- Volunteers
- 921 people
- Sponsor
- University of California, Irvine
Pompe Disease
AAV2/8-LSPhGAA (ACTUS-101) in Late-Onset Pompe Disease
Open-label, ascending dose trial of ACTUS-101 administered intravenously.
- Trial name
- NCT03533673
- Testing
- ACTUS-101
- Where
- United States
- Volunteers
- 7 people
- Sponsor
- AskBio Inc
Late-Onset Pompe Disease
LATE-ONSET POMPE DISEASE AND CEREBROVASCULAR MANIFESTATIONS
Late-onset Pompe disease (LOPD) is an inherited metabolic disorder caused by deficiency of acid alpha-glucosidase (GAA). In addition to skeletal and respiratory muscle involvement, previous studies suggest that patients with LOPD…
- Trial name
- NCT07685314
- Where
- Spain
- Volunteers
- 477 people
- Sponsor
- Hospitales Universitarios Virgen del Rocío
Intermediate AMD
A Clinical Trial Evaluating the Safety and Efficacy of a New Light Combination Therapy Addressing Intermediate AMD
The proposed clinical investigation wants primary to validate the safety of the innovative light therapy approach and in second priority provide insight and confirmations on therapeutic effect.
- Trial name
- retinaSEES-PoC (NCT06557369)
- Testing
- reSEES
- Where
- Italy
- Volunteers
- 30 people
- Sponsor
- Oculox Technologies SA