ORPHA:254886
Autosomal recessive progressive external ophthalmoplegia
Also known as: arPEO
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
116
49.9th percentile
Trials
0
Interventional, condition-specific
Researchers
619
Distinct authors in sample
Gene link
—
Readiness
3/6
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.”
3/6 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 characterisedPresent
115 HPO annotations (e.g. Sensory ataxic neuropathy; Elevated circulating creatine kinase activity; Bradykinesia) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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)
115
Associated phenotypes · MONDO:0016810
- Sensory ataxic neuropathy
- Elevated circulating creatine kinase activity
- Bradykinesia
- Dystonia
- Gait ataxia
Showing 5 of 115 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
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)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
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=3967) is 59.
116 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).
59 in the last 10 years · high confidence · 49.9th 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 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
high confidence · 38.6th 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.
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 6 · after dedupe 5 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 5 · dropped 0 · fetched 2026-07-30
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).
Uncertain / not reviewed (5)
- ctis·2024-518972-30-00·Authorised, ongoing·A phase I/II open label study to assess safety, feasibility and efficacy of ex vivo expanded, autologous haematopoietic stem and progenitor cell populations that contain CD34+ cells transduced with a lentiviral vector encoding the TCIRG1 cDNA in children with autosomal recessive osteopetrosis caused by mutations in the TCIRG1 gene.
skipped — LLM skipped (--skip-llm)
- ctis·2024-519535-42-00·Authorised, recruiting·A Phase 1/2, First-in-Human, Open-label, Assessor-Masked, Randomized, Controlled, Dose Escalation/Expansion Study to Evaluate the Safety, Tolerability and Preliminary Efficacy of a Subretinal Injection of SB-007 in Subjects with Stargardt Disease (STGD1) Caused by Bi-Allelic Autosomal Recessive Mutations in the ATP Binding Cassette Subfamily A Member 4 (ABCA4) Gene (ASTRA).
skipped — LLM skipped (--skip-llm)
- ctis·2024-512840-52-00·Cancelled·Evaluation of the efficacy and safety of empagliflozin in the treatment of neutropenia in patients with glycogenosis Ib. EMPAtia.
skipped — LLM skipped (--skip-llm)
- ctis·2023-508218-41-00·Authorised, recruiting·A Phase 3b Multicenter Open-label Trial of the Safety, Tolerability, and Efficacy of Tolvaptan in Infants and Children 28 days to less than 18 years of Age with Autosomal Recessive Polycystic Kidney Disease (ARPKD).
skipped — LLM skipped (--skip-llm)
- ctis·2024-511971-13-00·Expired·An open label, non-randomized trial to evaluate the safety and efficacy of a single infusion of OTL-200 in patients with Late Juvenile (LJ) Metachromatic Leukodystrophy (MLD)
skipped — LLM skipped (--skip-llm)
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 Autosomal recessive progressive external ophthalmoplegia — check Associations / patient organisations on that page.
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"
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; 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