Clinical trials: Late-onset Pompe Disease
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 (Late-onset)
Evaluation of the Safety, Tolerability and Efficacy of Gene Therapy Drug for Late Onset Pompe Disease (LOPD)
This is a single-center, single-arm, open-label, single-dose treatment clinical study to evaluate the safety, tolerability and efficacy of CRG003 injection in participants with late onset Pompe disease (LOPD), with a long-term…
- Trial name
- NCT06178432
- Testing
- CRG003 injection
- Where
- China
- Volunteers
- 6 people
- Sponsor
- Huashan Hospital
Pompe Disease (Late-onset), Glycogen Storage Disease Type II (GSD-II)
Safety and Effectiveness Study of rhGAA in Patients With Advanced Late-Onset Pompe Disease Receiving Respiratory Support
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
- NCT00268944
- Testing
- Myozyme
- Where
- France
- Volunteers
- 5 people
- Sponsor
- Genzyme, a Sanofi Company
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, Pompe Disease (Late-onset)
Neutralizing Antibody Seroprevalence Study With a Retrospective Component in Participants With Late-Onset Pompe Disease
The purpose of this study is to obtain information pertaining to the occurrence of antibodies to investigational SPK-3006 capsid and GAA, GAA activity and GAA antigen levels in the usual care setting of Late-Onset Pompe Disease…
- Conditions
- Pompe Disease, Pompe Disease (Late-onset), Glycogen Storage Disease Type 2, LOPD
- Trial name
- NCT03893240
- Testing
- Neutralizing Antibody to SPK-3006 capsid
- Where
- 18 sites in United States, France and 4 more
- Volunteers
- 61 people
- Sponsor
- Spark Therapeutics, Inc.
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 (Late-onset), Myotonic Dystrophy Type 1 (DM1)
Musculoskeletal Nociceptive Pain in Participants With Neuromuscular Disorders
The primary aim is to characterize the prevalence, severity and quality of musculoskeletal nociceptive pain in adult patients with neuromuscular disorders (NMD).
- Conditions
- Pompe Disease (Late-onset), Myotonic Dystrophy Type 1 (DM1), Myotonic Dystrophy Type 2, Spinal Muscular Atrophy Type 3
- Trial name
- NCT04907162
- Testing
- Beck depression inventory fast screen, German Pain Inventory, Brief Pain Inventory
- Where
- Germany
- Volunteers
- 82 people, healthy volunteers welcome
- Sponsor
- LMU Klinikum
Pompe Disease
Dynamic Respiratory Muscle Function in Late-Onset Pompe Disease
This study intends to evaluate dynamic respiratory motor performance as a valuable measure of pulmonary function in adults with late-onset Pompe disease.
- Trial name
- DRMF (NCT02354664)
- Testing
- Thoracic MRI, Spirometry, Inspiratory Load Compensation
- Where
- United States
- Volunteers
- 14 people, healthy volunteers welcome
- Sponsor
- University of Florida
Pompe Disease, Muscle Loss
Nutritional Therapy in Late-onset Pompe Disease
RATIONALE: Pompe disease (PD) is a recessive genetic disorder wherein the body cannot break down glycogen due to a mutation in the acid alpha glucosidase (GAA) gene, which encodes for acid alpha-glucosidase.
- Conditions
- Pompe Disease, Muscle Loss, Obesity, Nutrition Poor
- Trial name
- PDT-MIS (NCT06130228)
- Testing
- Multi-ingredient supplement (PDT-MIS)
- Volunteers
- 28 people
- Sponsor
- McMaster University
Pompe Disease (Late-Onset), Glycogen Storage Disease Type II (GSD II)
Study About the Evolution of Severe Late Onset Pompe Disease Patient With Pulmonary Dysfunction and Receiving Myozyme®
To describe severe late onset patients with pompe disease receiving Myozyme®
- Conditions
- Pompe Disease (Late-Onset), Glycogen Storage Disease Type II (GSD II), Glycogenesis 2 Acid Maltase Deficiency
- Trial name
- NCT00731081
- Where
- France
- Volunteers
- 8 people
- Sponsor
- Genzyme, a Sanofi Company
Late-onset Pompe Disease
BMN 701 Phase 3 in rhGAA Exposed Subjects With Late Onset Pompe Disease (INSPIRE Study)
Study 701-301 is a single-arm, open-label, switchover study in patients with late-onset Pompe disease who have been receiving treatment with recombinant human acid alpha-glucosidase (rhGAA) for 48 weeks or longer.
- Trial name
- NCT01924845
- Testing
- BMN 701
- Where
- 22 sites in United States, Belgium and 6 more
- Volunteers
- 24 people
- Sponsor
- BioMarin Pharmaceutical
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
Re-administration of Intramuscular AAV9 in Patients With Late-Onset Pompe Disease
A recombinant AAV vector has been generated to carry the codon-optimized acid alpha-glucosidase (coGAA) gene expressed from a human desmin enhancer/promoter (DES).
- Trial name
- AAV9-GAA_IM (NCT02240407)
- Testing
- Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase, Rapamycin, saline
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- University of Florida
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
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 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
Pompe Disease
Safety and Efficacy of Clenbuterol in Individuals With Late-onset Pompe Disease and Receiving Enzyme Replacement Therapy
Funding Source- FDA OOPD The purpose of this study is to investigate the safety and efficacy of clenbuterol on motor function in individuals with late-onset Pompe disease (LOPD) who are treated with enzyme replacement therapy…
- Trial name
- NCT01942590
- Testing
- Clenbuterol
- Where
- United States
- Volunteers
- 17 people
- Sponsor
- Dwight Koeberl, M.D., Ph.D.
Pompe Disease
Albuterol in Individuals With Late Onset Pompe Disease (LOPD)
Albuterol is a drug approved by the US Food and Drug Administration (FDA) for treating breathing problems such as asthma. Studies have shown that albuterol may be beneficial in improving muscle function in people with late-onset…
- Trial name
- NCT01859624
- Testing
- Albuterol
- Where
- United States
- Volunteers
- 8 people
- Sponsor
- Duke University
Pompe Disease, Glycogen Storage Disease Type II (GSD II)
Safety and Efficacy Evaluation of Repeat neoGAA Dosing in Late Onset Pompe Disease Patients.
Primary Objective: To evaluate the safety and tolerability of neoGAA in treatment naïve and alglucosidase alfa treated late-onset Pompe disease patients.
- Conditions
- Pompe Disease, Glycogen Storage Disease Type II (GSD II), Acid Maltase Deficiency
- Trial name
- NCT01898364
- Testing
- GZ402666
- Where
- 17 sites in United States, Belgium and 5 more
- Volunteers
- 24 people
- Sponsor
- Genzyme, a Sanofi Company
Glycogen Storage Disease Type II (GSD-II), Pompe Disease (Late-Onset)
Alglucosidase Alfa Temporary Access Program
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
- Glycogen Storage Disease Type II (GSD-II), Pompe Disease (Late-Onset), Acid Maltase Deficiency Disease, Glycogenosis 2
- Trial name
- ATAP (NCT00520143)
- Testing
- alglucosidase alfa (recombinant human acid alpha-glucosidase [rhGAA])
- Where
- 74 sites in United States
- Sponsor
- Genzyme, a Sanofi Company