ORPHA:254886
Autosomal recessive progressive external ophthalmoplegia
Also known as: arPEO
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
116
56.7th percentile
Trials
0
Interventional, condition-specific
Researchers
619
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic, neuro-ophthalmological disease characterized by weakness of the external eye muscles, resulting in bilateral ptosis and diffuse, symmetric ophthalmoparesis. Additional signs may include generalized skeletal muscle weakness, muscle atrophy, sensory axonal , , , and psychiatric symptoms. It is usually more severe than form.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0016810
- MeSH:C564926
- UMLS:C1850303
Additional Mondo synonyms (1)
progressive external ophthalmoplegia, autosomal recessive
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.”
2/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
116 matched papers (59 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPartial
None under the specific name; 3 for broader category progressive external ophthalmoplegia
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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
116
116 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
116 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).
59 in the last 10 years · high confidence · 56.7th percentile (publications denominator)
Phrase hits: 116 · MeSH hits: 0
Who's working on it?
619
Distinct author names in 116 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Copeland WC20 papers · 2025
Genome Integrity and Structural Biology Laboratory, National Institute of Environmental Health Sciences, P.O. Box 12233, Research Triangle Park, NC 27709, United States. Electronic address: copelan1@niehs.nih.gov.
Papers in Europe PMC - 02Baruffini E6 papers · 2024
Department of Genetics, Biology of Microorganisms, Anthropology, Evolution, University of Parma, Parma, Italy. enrico.baruffini@nemo.unipr.it
Papers in Europe PMC - 03Suomalainen A6 papers · 2025
Research Programs Unit, Stem Cells and Metabolism, Biomedicum-Helsinki, Haartmaninkatu 8, University of Helsinki, 00290, Helsinki, Finland.
Papers in Europe PMC - 04Taylor RW6 papers · 2022
Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, UK.
Papers in Europe PMC - 05Lodi T5 papers · 2024
Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parco Area delle Scienze 11/A, 43124 Parma, Italy.
Papers in Europe PMC - 06Van Goethem G5 papers · 2010
Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB-8), University of Antwerp (UIA). vgoethge@uia.ua.ac.be
Papers in Europe PMC - 07Young MJ5 papers · 2016
Genome Integrity and Structural Biology Laboratory, National Institute of Environmental Health Sciences, P.O. Box 12233, Research Triangle Park, NC 27709, United States.
Papers in Europe PMC - 08DiMauro S4 papers · 2013
College of Physicians and Surgeons, 630 West 168th Street, New York, NY 10032, USA. sd12@columbia.edu
Papers in Europe PMC - 09Facchinello N4 papers · 2025
Neuroscience Institute, Italian Research Council (CNR), 35131, Padova, Italy. nicola.facchinello@cnr.it.
Papers in Europe PMC - 10Van Broeckhoven C4 papers · 2004Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 3 trials are registered for progressive external ophthalmoplegia, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
3 interventional trials matched progressive external ophthalmoplegia, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: progressive external ophthalmoplegia
3
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
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 2026-07-26This 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.
"Autosomal recessive progressive external ophthalmoplegia" OR "arPEO" OR "progressive external ophthalmoplegia, autosomal recessive"
MeSH descriptor terms unioned into the query: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal recessive progressive external ophthalmoplegia" OR "arPEO" OR "progressive external ophthalmoplegia, autosomal recessive" OR "Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive" OR "autosomal genetic disease"
Recall-expansion terms: autosomal genetic disease
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"progressive external ophthalmoplegia"
Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T11:08:13.939Z