Metabolic
Pompe Disease
Also known as Glycogen storage disease type II, Acid maltase deficiency, GSD II
Pompe disease is caused by mutations in the GAA gene that encodes the enzyme acid alpha-glucosidase. Without it, glycogen accumulates in lysosomes, progressively destroying muscle cells.
0
studies recruiting now
as of 7 Sept 2026
2
studies registered in total
as of 7 Sept 2026
0
countries with a recruiting site
as of 7 Sept 2026
None
recruiting study posted to date
among recruiting studies
Recruiting trials
No recruiting trial found right now.
2 studies are registered for Pompe Disease, but none was recruiting as of 7 Sept 2026. Here is what is still worth doing.
Keep watching
Get an email when a new Pompe Disease study opens.
One email a day at most. Unsubscribe with one click.
Used only for these alerts. Privacy.
Support
Patient organisations
Registry: Pompe Registry (Sanofi Genzyme) · Join ↗. Registries connect patients to researchers and often hear about trials first.
About Pompe Disease
Pompe disease is caused by mutations in the GAA gene that encodes the enzyme acid alpha-glucosidase. Without it, glycogen accumulates in lysosomes, progressively destroying muscle cells. Infantile-onset Pompe presents within months of birth with severe cardiac and muscle weakness. Late-onset disease appears in childhood through adulthood with progressive limb and respiratory muscle weakness.
Common clinical features
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
3 approved treatments and 16 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
+ 8 more in development
Before you apply
Things trial teams commonly ask about for Pompe Disease. Not eligibility rules; those are set by each study.
- Infantile-onset versus late-onset Pompe are treated as distinct conditions in most trials
- Prior ERT treatment and antibody status significantly affect trial eligibility
- Respiratory function tests (FVC%) are a key eligibility and outcome measure
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).