About Late-Onset Pompe Disease
Late-onset Pompe disease (LOPD) is caused by partial deficiency of acid alpha-glucosidase (GAA), distinguishing it from the more severe infantile-onset form. Glycogen accumulates progressively in skeletal muscle and respiratory muscle, causing limb-girdle weakness and respiratory failure that worsens over years to decades. Alglucosidase alfa (Myozyme/Lumizyme) was the first approved ERT; avalglucosidase alfa (Nexviazyme) and cipaglucosidase alfa with miglustat (Pombiliti+Opfolda) represent next-generation options.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Late-Onset Pompe Disease trials.
GAA enzyme activity and GAA genotype are required eligibility confirmations — document residual enzyme activity level
Forced vital capacity (FVC) percent predicted is a primary eligibility criterion — many trials require FVC above a minimum threshold
Document current ERT (alglucosidase alfa vs. avalglucosidase alfa) and anti-GAA antibody titer — antibody-positive patients may be excluded or enrolled in immune tolerance induction sub-studies
Six-minute walk test (6MWT) distance is a key baseline and outcome measure
Patient Resources
Find recruiting Late-Onset Pompe Disease trials
Search 500,000+ studies from ClinicalTrials.gov, filtered for Late-Onset Pompe Disease. Updated daily.