Pompe disease trials in United States

In United States 13 Also abroad 30

13 trials · From ClinicalTrials.gov, checked 11 November 2026. Ask the study team whether a trial fits you.

No phaseTaking people
Pompe Disease Registry Protocol
Where
Ann Arbor, Aurora, Baltimore, Birmingham, Boston, Camden, Charlotte, Charlottesville, Chicago, Cincinnati, Cleveland, Columbia, Columbus, Coral Gables, Dallas, Decatur, Detroit, Dublin, Durham, Fairfax, Fort Worth, Gainesville, Grand Rapids, Greenville, Hackensack, Helena, Hershey, Huntington, Indianapolis, Iowa City, Jacksonville, Kansas City, Las Vegas, Little Rock, Loma Linda, Los Angeles, Louisville, Milwaukee, Minneapolis, Morristown, Nashville, New Brunswick, New Haven, New Hyde Park, New Orleans, New York, Norfolk, Oakland, Omaha, Orange, Paterson, Philadelphia, Phoenix, Pittsburgh, Portland, Providence, Rochester, Sacramento, Salt Lake City, San Bernardino, San Diego, San Francisco, Seattle, South Burlington, Springfield, Stanford, St Louis, Syracuse, Tacoma, Tampa, Tucson, Valhalla, Washington D.C.
People
2,000 worldwide
Run by
Genzyme, a Sanofi Company
See details and how to joinNCT00231400
Phase 1/2Taking people
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)
Where
Dallas, Durham, Irvine, New York, Palo Alto, Philadelphia, Phoenix, Pittsburgh, Richmond
Age
18 years to 65 years
People
12
Run by
AskBio Inc
See details and how to joinNCT07282847
Phase 1Taking people
A Study to Evaluate the Safety, Pharmacokinetics, and Pharmacodynamics of DNL952 in Adult Participants With Late-Onset Pompe Disease
Where
Durham, Fairfax, Irvine, St Louis
Age
18 years to 75 years
People
32 worldwide
Run by
Denali Therapeutics Inc.
See details and how to joinNCT07354724 · EU 2025-524082-25-00
Phase 2Taking people
Study of S-606001 as an Add-on to Enzyme Replacement Therapy (ERT) in Participants With Late-onset Pompe Disease (LOPD)
Where
Atlanta, Cincinnati, Durham, Fairfax, Gainesville, Irvine, Philadelphia, Pittsburgh, St Louis
Age
18 years and over
People
45 worldwide
Run by
Shionogi
See details and how to joinNCT07123155
No phaseTaking people
Pompe Pregnancy Sub-Registry
Where
Atlanta, Dublin, Durham, Fairfax, Grand Rapids, Greenville, Indianapolis, Iowa City, Jacksonville, New York, Phoenix, Portland, St Louis
People
20 worldwide
Run by
Genzyme, a Sanofi Company
See details and how to joinNCT00567073
No phaseTaking people
Determination of CRIM Status and Longitudinal Follow-up of Individuals With Pompe Disease
Where
Durham
People
400
Run by
Duke University
See details and how to joinNCT01665326
No phaseTaking people
Registry of Patients Diagnosed With Lysosomal Storage Diseases
Where
San Francisco
Age
Up to 64 years
People
250
Run by
University of California, San Francisco
See details and how to joinNCT05619900
Phase 1Taking people
PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders)
Where
San Francisco
Age
18 years to 50 years
People
10
Run by
University of California, San Francisco
See details and how to joinNCT04532047
No phaseTaking people
A Global Prospective Observational Registry of Patients With Pompe Disease
Where
Atlanta, Cincinnati, Durham, Fairfax, Indianapolis, Irvine, Jacksonville, Little Rock, New York, Philadelphia, Pittsburgh, Salt Lake City, St Louis
People
500 worldwide
Run by
Amicus Therapeutics
See details and how to joinNCT06121011
No phaseTaking people
Cognitive and Neurological Pathologies in Pompe Disease
Where
Durham
Age
0 years to 18 years
People
45
Run by
Duke University
See details and how to joinNCT04639336
Phase 3Taking people
A Study to Evaluate the Safety, Efficacy, PK, PD and Immunogenicity of Cipaglucosidase Alfa/Miglustat in IOPD Subjects Aged 0 to <18
Where
Atlanta, Cincinnati, Durham, Gainesville, Pittsburgh, Salt Lake City
Age
Up to 17 years
People
36 worldwide
Run by
Amicus Therapeutics
See details and how to joinNCT04808505 · EU 2022-501095-25-01
No phaseTaking people
Avalglucosidase Alfa Pregnancy Study
Where
Bridgewater
People
100
Run by
Sanofi
See details and how to joinNCT05734521
No phaseTaking people
Long-Term Development of Muscular Dystrophy Outcome Assessments
Where
Richmond
Age
6 years to 50 years
People
1,000
Run by
Virginia Commonwealth University
See details and how to joinNCT05989620