RecruitingPhase 1NCT07354724
Metabolic
Late-Onset Pompe Disease
Also known as LOPD, late-onset glycogen storage disease type II, adult-onset acid maltase deficiency, GAA deficiency
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, caus
ORPHA:308 ↗Gene GAAPrevalence 1-5 per 100,000 (Orphanet)Onset Childhood, AdultAutosomal recessive genetic
8
studies recruiting now
as of 7 Sept 2026
70
studies registered in total
as of 7 Sept 2026
45
countries with a recruiting site
as of 7 Sept 2026
21 Jan 2026
most recent study posted
among recruiting studies
Recruiting trials
RecruitingPhase 1 / Phase 2NCT07282847
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)
RecruitingNCT00231400
Pompe Disease Registry Protocol
RecruitingPhase 2NCT07123155
Study of S-606001 as an Add-on to Enzyme Replacement Therapy (ERT) in Participants With Late-onset Pompe Disease (LOPD)
RecruitingNCT00567073
Pompe Pregnancy Sub-Registry
Showing the 5 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
See all 8 recruiting studiesWhere recruiting studies are running
Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
ArgentinaAustraliaBelgiumBrazilBulgariaCanadaChileChinaColombiaCroatiaCzechiaDenmarkFranceGermanyGreeceHong KongHungaryIndiaIndonesiaIsraelItalyJapanJordanKuwaitLebanonMalaysiaNetherlandsPakistanPhilippinesPolandPortugalRomaniaRussiaSaudi ArabiaSerbiaSingaporeSlovakiaSouth KoreaSpainTaiwanThailandUnited Arab EmiratesUnited KingdomUnited StatesVietnam
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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
Proximal muscle weaknessRespiratory insufficiencyExercise intoleranceLordosis and scoliosisSleep-disordered breathingWheelchair dependenceDysphagia
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
2 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Phase 3Brivaracetam (Briviact)
Phase 3Human Immunoglobulin G (Flebogamma dif (previously flebogammadif))
Before you apply
Things trial teams commonly ask about for Late-Onset Pompe Disease. Not eligibility rules; those are set by each study.
- 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
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).