RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:270

Oculopharyngeal muscular dystrophy

medium confidenceDisorder

Also known as: OPMD

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

1,480

92.1th percentile

Trials

7

Interventional, condition-specific

Researchers

1,080

Distinct authors in sample

Gene link

HNRNPA2B1, PABPN1

Definitive

Readiness

3/6

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.”

3/6 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

    1,480 matched papers (712 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  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)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

1,480

1,480 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

1,480 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

712 in the last 10 years · medium confidence · 92.1th 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 27 July 2026

7 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 89.9th percentile).

medium confidence · 89.9th 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.

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

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"

Run this search on Europe PMC

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

"Oculopharyngeal muscular dystrophy" OR "HNRNPA2B1" OR "PABPN1"

Recall-expansion terms: HNRNPA2B1, PABPN1

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: suspect — strategies attempted: phrase, recall-expansion; 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