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ORPHA:270

Oculopharyngeal muscular dystrophy

medium confidenceDisorder

Also known as: OPMD

Publications

9,632

96.3th percentile

Trials

7

Interventional, condition-specific

Researchers

1,080

Distinct authors in sample

Gene link

HNRNPA2B1, PABPN1

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

A rare, adult-onset, characterized by eyelid ptosis, ophthalmoplegia, dysphagia, dysarthria and proximal limb weakness.

How rare: >1 / 1000

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (1)

oculopharyngeal muscular dystrophy

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

6/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — HNRNPA2B1, PABPN1

  2. LiteraturePresent

    9,632 matched papers (7,579 in last 10 years) Source

  3. Phenotype characterisedPresent

    55 HPO annotations (e.g. Dysphagia; Gait disturbance; Progressive ptosis) Source

  4. Animal modelPresent

    3 genotype models (Mus musculus) Source

  5. Orphan designationPartial

    3 EMA designations (none yet with FDA orphan-indication approval) — e.g. trehalose Source

  6. Interventional trialPresent

    7 matched on ClinicalTrials.gov (1 recruiting in sample)

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Yes — we know a specific gene responsible (HNRNPA2B1, PABPN1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

55

Associated phenotypes · MONDO:0008116

  • Dysphagia
  • Gait disturbance
  • Progressive ptosis
  • Ptosis
  • Proximal muscle weakness

Showing 5 of 55 — open Monarch for the full list.

Animal models (Monarch / Alliance)

3

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

3

Designations · no FDA orphan-indication approval yet

  • EMA trehaloseTreatment of oculopharyngeal muscular dystrophy · 21/05/2015 · PositiveEMA designation
  • EMA genetically modified adeno-associated viral vector serotype 9 expressing shRNA as well as a codon-optimised shRNA-insensitive wildtype PABPN1Treatment of oculopharyngeal muscular dystrophy · 12/01/2017 · PositiveEMA designation
  • EMA autologous skeletal myoblasts expanded ex vivoTreatment of oculopharyngeal muscular dystrophy · 13/04/2018 · NegativeEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

1

Drugs / clinical candidates · MONDO_0008116

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

9,632

9,632 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

9,632 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

7,579 in the last 10 years · medium confidence · 96.3th percentile (publications denominator)

Phrase hits: 1,480 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,080

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Gagnon C16 papers · 2026

    Centre de recherche Charles-Le-Moyne-Saguenay-Lac-St-Jean sur les innovations en santé (CR-CSIS), Faculté de médecine et des sciences de la santé, Université de Sherbrooke, Québec, Canada.

    Papers in Europe PMC
  2. 02
    Brais B14 papers · 2026

    Department of Neurology and Neurosurgery, McGill University, Québec, Canada.

    Papers in Europe PMC
  3. 03
    Raz V12 papers · 2026

    Department of Human Genetics, Leiden University Medical Centre, 2333ZC Leiden, The Netherlands.

    Papers in Europe PMC
  4. 04
    Trollet C11 papers · 2026

    Sorbonne Université, INSERM, Association Institut de Myologie, Centre de Recherche en Myologie, 75013 Paris, France.

    Papers in Europe PMC
  5. 05
    Malerba A10 papers · 2026

    Department of Biological Sciences, School of Life Sciences and the Environment, Royal Holloway University of London, Egham, Surrey TW20 0EX, UK.

    Papers in Europe PMC
  6. 06
    Nishino I10 papers · 2025

    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Kodaira, Japan.

    Papers in Europe PMC
  7. 07
    Butler-Browne G9 papers · 2026

    Sorbonne Université, INSERM, Association Institut de Myologie, Centre de Recherche en Myologie, UMRS974, 47 bd de l'Hôpital, Paris, France.

    Papers in Europe PMC
  8. 08
    Shademan M9 papers · 2026

    Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.

    Papers in Europe PMC
  9. 09
    Côté C8 papers · 2025

    Centre de recherche Charles-Le-Moyne-Saguenay-Lac-St-Jean sur les innovations en santé (CR-CSIS), Faculté de médecine et des sciences de la santé, Université de Sherbrooke, Québec, Canada.

    Papers in Europe PMC
  10. 10
    Mouly V8 papers · 2026

    Sorbonne Université, INSERM, Association Institut de Myologie, Centre de Recherche en Myologie, UMRS974, 47 bd de l'Hôpital, Paris, France.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

7

interventional trials for this specific condition

7 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

Data as of 11 September 2026 · last trial check 28 July 2026

7 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 90.9th percentile).

medium confidence · 90.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

7 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

5 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

General rare disease registries you may be eligible for

These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Oculopharyngeal muscular dystrophy — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

("Oculopharyngeal muscular dystrophy") OR ("HNRNPA2B1" OR "HNRNPA2B1 syndrome" OR "HNRNPA2B1-related" OR "PABPN1" OR "PABPN1 syndrome" OR "PABPN1-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Oculopharyngeal muscular dystrophy"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 7 interventional · 5 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: OPMD

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T13:09:18.663Z