Clinical trials: Glycogen Storage Disease
Glycogen Storage Disease Type I
Diazoxide in the Treatment of Type 1 Glycogenosis
In children with a glycogen storage disorder, one of the enzymes needed to convert glucose into glycogen, or to break down glycogen into glucose, is missing.
- Trial name
- NCT07739394
- Volunteers
- 15 people
- Sponsor
- Central Hospital, Nancy, France
Glycogen Storage Disease Type II;Pompe's Disease
Study to Compare the Efficacy and Safety of Enzyme Replacement Therapies Avalglucosidase Alfa and Alglucosidase Alfa Administered Every Other Week in Patients With Late-onset Pompe Disease Who Have Not Been Previously Treated for Pompe Disease
Primary Objective: To determine the effect of avalglucosidase alfa treatment on respiratory muscle strength measured by percent (%) predicted forced vital capacity (FVC) in the upright position, as compared to alglucosidase alfa.
- Trial name
- COMET (NCT02782741)
- Testing
- Avalglucosidase alfa (GZ402666), Alglucosidase alfa (GZ419829)
- Where
- 69 sites in United States, Argentina and 23 more
- Volunteers
- 101 people
- Sponsor
- Genzyme, a Sanofi Company
Pompe Disease
VAL-1221 Delivered Intravenously in Ambulatory and Ventilator-free Participants With Late-Onset Pompe Disease
This Phase I/II open-label, randomized, dose-escalation study will assess the safety, tolerability, pharmacokinetics, pharmacodynamics, and preliminary efficacy of VAL-1221 versus Myozyme®/Lumizyme® in participants with…
- Trial name
- NCT02898753
- Testing
- VAL-1221, RhGAA
- Where
- 3 sites in United States, United Kingdom
- Volunteers
- 12 people
- Sponsor
- Valerion Therapeutics, LLC
Pompe Disease
An Extension Study of S-606001 in Participants With Late-onset Pompe Disease (LOPD)
The primary purpose of this study is to evaluate the long-term safety and tolerability profile of S-606001 in participants with LOPD.
- Trial name
- NCT07750990
- Testing
- S-606001, ERT
- Volunteers
- 60 people
- Sponsor
- Shionogi
Rare Genetic Muscle Diseases, Muscular Dystrophy, Duchenne
Transcriptomic Analysis to Put an End to Misdiagnosis in Patients With Rare Muscle Diseases
Since 2017, more than 250 analyses performed at the Molecular Genetics Laboratory of the Timone Enfant Hospital have yielded negative results in patients with rare genetic muscle diseases.
- Conditions
- Rare Genetic Muscle Diseases, Muscular Dystrophy, Duchenne, Muscular Dystrophy, Becker, Congenital Myopathy
- Trial name
- ARNseq-Musc (NCT06833489)
- Testing
- ARN extraction from muscle biopsies
- Where
- France
- Volunteers
- 50 people
- Sponsor
- Assistance Publique Hopitaux De Marseille
Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1
Baby Detect : Genomic Newborn Screening
Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions.
- Conditions
- Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young
- Trial name
- BabyDetect (NCT05687474)
- Where
- Belgium
- Volunteers
- 6,824 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Liege
Cardiomyopathies, Amyloidosis Cardiac
Characterization of Patients With Cardiomyopathy to Identify Critical Patients Candidates for Cardiac Transplantation
The study aims to identify new diagnostic and prognostic markers for CMP that can help predict disease progression. In particular, the study will focus on microRNAs (miRNAs) and spatial transcriptomics, which are emerging…
- Conditions
- Cardiomyopathies, Amyloidosis Cardiac, Fabry Disease, Arrhythmogenic Cardiomyopathy
- Trial name
- CMPMIRNA (NCT06813443)
- Where
- 3 sites in Italy
- Volunteers
- 700 people
- Sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna
Pompe Disease, Glycogen Storage Disease Type II (GSD II)
Pharmacokinetics of Alglucosidase Alfa in Patients With Pompe Disease
The primary objective of this study was to characterize the pharmacokinetics (PK) of alglucosidase alfa manufactured at the 4000 L scale in participants who had a confirmed diagnosis of Pompe disease.
- Trial name
- PAPAYA (NCT01410890)
- Testing
- alglucosidase alfa
- Where
- 12 sites in United States, Bulgaria and 4 more
- Volunteers
- 21 people
- Sponsor
- Genzyme, a Sanofi Company
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 IIIA
Acute Nutritional Ketosis in GSD IIIa
The investigators will study if acute nutritional ketosis in adult GSD IIIa patients can boost muscle mitochondrial function in vivo.
- Trial name
- NCT03011203
- Testing
- physical exercise
- Where
- Netherlands
- Volunteers
- 6 people
- Sponsor
- University Medical Center Groningen
Pompe Disease (Late-onset), Glycogen Storage Disease Type II (GSD-II)
A Study of rhGAA 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
- NCT00250939
- Testing
- Myozyme
- Where
- Netherlands
- Volunteers
- 5 people
- Sponsor
- Genzyme, a Sanofi Company
Glycogen Storage Disease Type V
Triheptanoin in Mc Ardle
Background: Patients with the sugar metabolism disorder, Glycogen Storage Disease Type V, have insufficient breakdown of sugar stored as, glycogen, within the cells.
- Trial name
- NCT02919631
- Testing
- Triheptanoin
- Where
- France
- Volunteers
- 12 people
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Lafora Disease
Natural History and Functional Status Study of Patients With Lafora Disease
A natural history and functional status study to characterize the clinical disease course in Lafora disease patients using standardized, quantitative evaluations and to identify useful biomarkers and clinical outcome measures for…
- Trial name
- NCT03876522
- Where
- 4 sites in United States, Italy and 1 more
- Volunteers
- 33 people
- Sponsor
- Ionis Pharmaceuticals, Inc.
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
Pompe Disease (Late-onset), Inclusion Body Myositis
Pompe & Pain - Study to Assess Nociceptive Pain in Adult Patients With Pompe Disease
The primary aim of this nationwide, explorative, cross-sectional study in Germany is to characterize the prevalence, severity and quality of musculoskeletal pain in adult patients with late-onset Pompe disease (LOPD).
- Conditions
- Pompe Disease (Late-onset), Inclusion Body Myositis, Spinal Muscular Atrophy Type 3, FSHD
- Trial name
- NCT05272969
- Testing
- Beck depression inventory fast screen (Questionnaire), Brief Pain Inventory (BPI) (Questionnaire), German Pain Inventory (Questionnaire)
- Where
- Germany
- Volunteers
- 95 people
- Sponsor
- LMU Klinikum
Lysosomal Storage Disorders
Molecular and Cellular Mechanisms of Lysosomal Storage Diseases
The lysosome is a specialized part of the cell that functions to degrade metabolic wastes in the cell. Defects in the functioning of the lysosome result in accumulation and subsequent storage of such metabolic wastes.
- Trial name
- NCT02000310
- Where
- United States
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- O & O Alpan LLC
Neutropenia
A Study of Mavorixafor in Participants With Congenital Neutropenia and Chronic Idiopathic Neutropenia Disorders
This is a 2-part study of mavorixafor in participants diagnosed with chronic neutropenia. The main goal of Part 1 (Phase 1b) is to help researchers learn more about how the investigational medicine, mavorixafor, impacts people…
- Trial name
- NCT04154488
- Testing
- Mavorixafor
- Where
- 7 sites in United States
- Volunteers
- 32 people
- Sponsor
- X4 Pharmaceuticals
Pompe Disease, Pompe Disease (Late-onset)
Developing a Management Approach for Patients With "Late-Onset" Pompe Disease
This is an observational study with no study related treatment of interventions. The purpose of the study is to investigate and document disease specific clinical symptoms in newborns, infants and children with Pompe disease…
- Conditions
- Pompe Disease, Pompe Disease (Late-onset), GAA Deficiency
- Trial name
- NCT03694561
- Testing
- Observational
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Duke University
Lysosomal Storage Disorders, Gaucher Disease
Investigating Lysosomal Storage Diseases in Minority Groups
Although lysosomal storage disorders, such as Fabry disease, Gaucher disease, and Pompe disease, represent serious challenges in the healthcare system, no study has yet investigated the prevalence of these diseases in the US.
- Conditions
- Lysosomal Storage Disorders, Gaucher Disease, Fabry Disease, Pompe Disease
- Trial name
- NCT02120235
- Where
- United States
- Volunteers
- 20,000 people, healthy volunteers welcome
- Sponsor
- O & O Alpan LLC
Pompe's Disease
Feasability and Interest of Screening for Infantile Pompe's Diseases at Birth
Given the 100 fold increase of the incidence of Pompe's disease in Western French Guiana, the objective of the present study is to implement systematic screening in newborns in French Guiana in order to start treatment before the…
- Trial name
- DEPIPOMP1 (NCT02904395)
- Testing
- observational (no intervention)
- Volunteers
- 3,413 people
- Sponsor
- Centre Hospitalier de Cayenne