Browse recruiting and upcoming clinical trials for Pompe disease.
Patient-friendly, AI-assisted summaries based on official ClinicalTrials.gov ↗ records. Last updated: Oct 10, 2026
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ClinicalTrials.gov is the complete and most up-to-date source. Trials may be missing, and trial information may have changed since our last check. Always verify important information in the official registry.
Who can join AIPeople aged ≥50 with late-onset Pompe disease / GAA deficiency (also listed as Glycogen Storage Disease Type II or Acid Maltase Deficiency).
What is being studied AITests giving alglucosidase alfa every 4 weeks instead of every 2 weeks.
Who can join AIAdults (≥18) with clinically diagnosed late‑onset Pompe disease who previously received enzyme replacement therapy and stopped it ≥4 weeks before screening.
What is being studied AITests safety, tolerability, and efficacy of a single IV dose of CRG003 gene therapy.
Who can join AIPeople aged 65 years with diagnosed neuromuscular diseases (for example: inclusion body myositis, myotonic dystrophy, myasthenia gravis, SMA, Guillain‑Barré).
What is being studied AITests whether a week of adapted assistive gait devices plus training changes fall-risk and walking measures.
Who can join AIPeople with rare genetic muscle diseases (eg Duchenne or Becker, congenital myopathy, infantile‑onset Pompe) who remain undiagnosed after DNA panel testing.
What is being studied AIUses RNA sequencing of stored muscle biopsies to look for disease-causing RNA changes.
Who can join AIAdults with genetically confirmed Pompe disease and people with restrictive or unexplained hypoventilation who had phrenic nerve or diaphragm studies.
What is being studied AICharacterizes phrenic nerve conduction and diaphragm electromyography in adult Pompe disease and unexplained respiratory failure.
Who can join AIPeople aged 6–50 years who are clinically affected and genetically confirmed with LGMD, Myotonic Dystrophy Type 2 (DM2), or late-onset Pompe disease (LOPD).
What is being studied AICollects clinical outcome measurements and questionnaires over 24 months in people with LGMD, DM2, or LOPD.
Who can join AIPeople (prenatally or postnatally diagnosed) with Mucopolysaccharidosis I, II, IV A, VI, VII; infantile-onset Pompe; neuronopathic Gaucher; or Wolman disease, ages 0–64.
What is being studied AICollects clinical and laboratory data to describe natural history and prenatal outcomes of lysosomal diseases.
ClinicalTrials.gov returned these when we searched for this condition, but we could not confirm from the registry records that they are intended for people with it. Check each trial’s eligibility criteria, and ask the study team if you are unsure.
Who can join AIPeople with wet age-related macular degeneration (active, treatment‑naïve choroidal neovascularization in the macula).
What is being studied AITests whether 8‑week versus 12‑week initial follow-up intervals after four faricimab loading doses affect vision and OCT outcomes.