RecruitingNCT07118280
Neuromuscular
Oculopharyngeal Muscular Dystrophy
Also known as OPMD, PABPN1 expansion
Oculopharyngeal Muscular Dystrophy is a late-onset progressive myopathy caused by short GCN trinucleotide repeat expansions in the PABPN1 gene, leading to intranuclear accumulation of poly-alanine expanded PABPN1 protein. The hallmark featu
ORPHA:270 ↗Gene PABPN1Prevalence 1 in 100,000 (higher in French-Canadian and Bukharan Jewish populations)Onset Late adulthood (typically 5th–6th decade)Autosomal dominant (rarely recessive)
4
studies recruiting now
as of 7 Sept 2026
16
studies registered in total
as of 7 Sept 2026
3
countries with a recruiting site
as of 7 Sept 2026
28 Aug 2025
most recent study posted
among recruiting studies
Recruiting trials
RecruitingPhase 1 / Phase 2NCT06185673
A Study to Evaluate the Safety and Clinical Activity of Intramuscular Doses of BB-301 Administered to Subjects With Oculopharyngeal Muscular Dystrophy With Dysphagia
RecruitingNCT07146256
Natural History of Oculo-Pharyngeal Muscular Dystrophy (OPMD) - Israel National OPMD Registry
RecruitingNCT01793168
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Showing the 4 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
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Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
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About Oculopharyngeal Muscular Dystrophy
Oculopharyngeal Muscular Dystrophy is a late-onset progressive myopathy caused by short GCN trinucleotide repeat expansions in the PABPN1 gene, leading to intranuclear accumulation of poly-alanine expanded PABPN1 protein. The hallmark features are progressive ptosis and dysphagia, followed by proximal limb weakness. Aspiration pneumonia secondary to dysphagia is a major cause of mortality.
Common clinical features
Progressive bilateral ptosisDysphagia (initially for solids, then liquids)Proximal lower limb weaknessDysphonia and dysarthriaOphthalmoparesis in late stagesAspiration riskFacial weakness (late)
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
1 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Phase 2Trehalose
Before you apply
Things trial teams commonly ask about for Oculopharyngeal Muscular Dystrophy. Not eligibility rules; those are set by each study.
- Genetic confirmation of GCG repeat expansion in PABPN1 (≥7 repeats on one allele for dominant, ≥7 on both for recessive) is required; standard sequencing may miss repeat expansions — ensure fragment analysis or repeat-primed PCR was used
- Swallowing function assessment by videofluoroscopy or FEES (fibreoptic endoscopic evaluation) is a standard endpoint; obtaining a baseline swallowing study is strongly advisable
- Age eligibility often starts at 40 or 45 — confirm upper age limits as trials may also cap enrolment for older patients with advanced disease
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).