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GAA

—Alpha Glucosidase

Chromosome: 17

Location: 17:80101526-80119881

OMIM: 606800

Ensembl: ENSG00000171298

Official·OMIM:606800 Official·ENSG00000171298

Encodes acid alpha-glucosidase enzyme. Mutations cause Pompe disease.

Treatment Roadmap — GAA

Preclinical

Phase 1

2 trial

Phase 2

1 trial

Phase 3

1 trial

Approved

Clinical trials have approximately 10% success rate. This roadmap shows the current status, not guaranteed outcomes.

Associated Diseases

Pompe Disease

Autosomal RecessivePrevalence: 1/40000lysosomal

Official·OMIM:232300 Official·ORPHA365

Summary

Clinical Trial

Approved Therapy

Registered Variant