Clinical trials: Pompe's Disease
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
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
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 Infantile-Onset
Expanded Access for ATB200/AT2221 for the Treatment of IOPD
This is an expanded access program (EAP) for eligible participants designed to provide access to ATB200/AT2221.
- Trial name
- NCT04327973
- Testing
- ATB200, AT2221
- Where
- 4 sites in United States, Italy and 1 more
- Sponsor
- Amicus Therapeutics
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
Pompe Disease (Late-onset), Pompe Disease Late-Onset
A Study to Evaluate Safety, Tolerability, and Efficacy of AB-1009 Gene Therapy (GAA Gene) in Adult Participants With Late-Onset Pompe Disease (PROGRESS-GT LOPD)
This is a single-arm, open-label, dose-escalation study to evaluate the safety, tolerability and efficacy of a single intravenous infusion of AB-1009 in adult participants with late-onset Pompe disease (LOPD).
- Conditions
- Pompe Disease (Late-onset), Pompe Disease Late-Onset, LOPD
- Trial name
- NCT07282847
- Testing
- AB-1009 (GAA Gene)
- Where
- 9 sites in United States
- Volunteers
- 12 people
- Sponsor
- AskBio Inc
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
Pompe Disease (Late-onset)
A Study About Antibody Levels and Biomarkers in the Blood in People With Late-onset Pompe Disease
Pompe disease is a genetic condition which causes muscle weakness over time. People with Pompe disease have a faulty gene that makes an enzyme called acid alpha-glucosidase (or GAA).
- Trial name
- NCT06150820
- Testing
- No Intervention
- Where
- 53 sites in United States, Australia and 9 more
- Volunteers
- 119 people
- Sponsor
- Astellas Gene Therapies
Pompe Disease
Pompe Disease RWE Long-term Monitoring Program
Evaluate short- and long-term biomarker, motor function, respiratory function and safety with avalglucosidase alfa in IOPD and LOPD patients who switched from other ERT.
- Trial name
- NCT07834320
- Where
- Taiwan
- Volunteers
- 40 people
- 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
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
Pompe Disease (Late-onset)
Gene Transfer Study in Patients With Late Onset Pompe Disease
This is a phase 1/2 open-label, ascending dose, multicenter clinical study to evaluate the safety and efficacy of AT845 in adult (aged ≥ 18 years) subjects, ambulatory or nonambulatory, with Late Onset Pompe Disease (LOPD).
- Trial name
- FORTIS (NCT04174105)
- Testing
- zocaglusagene nuzaparvovec
- Where
- 4 sites in United States, United Kingdom
- Volunteers
- 11 people
- Sponsor
- Astellas Gene Therapies
Pompe Disease
A Study of S-606001 as Monotherapy in Participants With Late-onset Pompe Disease (LOPD)
The primary purpose of this study is to evaluate the safety and tolerability profile of S-606001 in participants with LOPD.
- Trial name
- NCT07787650
- Testing
- S-606001
- Volunteers
- 15 people
- Sponsor
- Shionogi
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.
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
Pompe Disease
Phrenic Nerve and Diaphragm Electrophysiology in Pompe Disease
Pompe disease is traditionally considered a lysosomal myopathy. However, increasing experimental and clinical evidence suggests involvement of the entire motor unit, including motor neurons, peripheral nerves, neuromuscular…
- Trial name
- NCT07664930
- Where
- Italy
- Volunteers
- 20 people
- Sponsor
- IRCCS National Neurological Institute "C. Mondino" Foundation
Pompe Disease
Study of S-606001 as an Add-on to Enzyme Replacement Therapy (ERT) in Participants With Late-onset Pompe Disease (LOPD)
The purpose of this study is to evaluate the safety, pharmacodynamics (PD), and exploratory clinical efficacy of S-606001 in adult participants with LOPD as an add-on to ERT.
- Trial name
- NCT07123155
- Testing
- S-606001
- Where
- 28 sites in United States, Belgium and 7 more
- Volunteers
- 45 people
- Sponsor
- Shionogi
Glycogen Storage Disease Type II Late Onset, Pompe Disease (Late-onset)
Safety and Efficacy of Avalglucosidase Alfa in Patients With Non-classic Pompe Disease Aged ≥ 5 Years
The goal of this clinical trial is to study the efficacy and safety of treatment with avalglucosidase alfa in patients with late onset Pompe disease that previously deteriorated on alglucosidase alfa.
- Conditions
- Glycogen Storage Disease Type II Late Onset, Pompe Disease (Late-onset), Pompe Disease Late-Onset, Pompe's Disease Juvenile Onset
- Trial name
- AVA (NCT07652814)
- Testing
- Avalglucosidase Alfa
- Where
- Netherlands
- Volunteers
- 6 people
- Sponsor
- Iris Plug
Healthy, Late Onset Pompe Disease
Study to Assess the Safety, Tolerability, PK and PD of ABX1100
Study ABX1100-1001 is a first-in-human (FIH), phase 1 study to assess the safety, tolerability, pharmacokinetics and pharmacodynamics of a single ascending dose (SAD) and multiple doses (MD) of ABX1100 administered intravenously…
- Trial name
- NCT06109948
- Testing
- ABX1100 injection for IV infusion
- Where
- 5 sites in United States, Canada
- Volunteers
- 46 people
- Sponsor
- Aro Biotherapeutics
Glycogen Storage Disease Type II (GSD-II), Pompe Disease (Late-onset)
Pompe Pregnancy Sub-Registry
This Sub-registry is a multicenter, international, longitudinal, observational, and voluntary program designed to track pregnancy outcomes for any pregnant woman enrolled in the Pompe Registry, regardless of whether she is…
- Conditions
- Glycogen Storage Disease Type II (GSD-II), Pompe Disease (Late-onset), Glycogenesis 2 Acid Maltase Deficiency
- Trial name
- NCT00567073
- Where
- 35 sites in United States, Australia and 7 more
- Volunteers
- 20 people
- Sponsor
- Genzyme, a Sanofi Company