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ORPHA:480

Kearns-Sayre syndrome

high confidenceDisorder

Publications

2,776

87.9th percentile

Trials

0

Interventional, condition-specific

Researchers

1,012

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare inborn error of metabolism that is characterized by external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar and heart block.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

Kearns Sayre Syndrome

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

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    2,776 matched papers (1,160 in last 10 years) Source

  3. Phenotype characterisedPresent

    55 HPO annotations (e.g. Short stature; Seizure; Ataxia) Source

  4. Animal modelPresent

    2 genotype models (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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)

55

Associated phenotypes · MONDO:0010787

  • Short stature
  • Seizure
  • Ataxia
  • Arrhythmia
  • Basal ganglia calcification

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

Animal models (Monarch / Alliance)

2

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)

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

1

Drugs / clinical candidates · MONDO_0010787

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

2,776

2,776 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=3967) is 59.

2,776 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).

1,160 in the last 10 years · high confidence · 87.9th percentile (publications denominator)

Phrase hits: 2,776 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,012

Distinct author names in 200 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.

  1. 01
    Finsterer J21 papers · 2025

    Krankenanstalt Rudolfstiftung, Messerli Institute, Vienna, Austria.

    Papers in Europe PMC
  2. 02
    Martinelli D8 papers · 2025

    Division of Metabolism, Bambino Gesù Children Hospital and Research Institute, IRCCS, 00165 Rome, Italy.

    Papers in Europe PMC
  3. 03
    Falk MJ6 papers · 2025

    Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA.

    Papers in Europe PMC
  4. 04
    Di Mambro C5 papers · 2025

    The European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart, Department of Pediatric Cardiology and Cardiac Surgery, Heart and Lung Transplantation, Bambino Gesù Children Hospital and Research Institute, IRCCS, 00165 Rome, Italy.

    Papers in Europe PMC
  5. 05
    Drago F5 papers · 2025

    The European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart, Department of Pediatric Cardiology and Cardiac Surgery, Heart and Lung Transplantation, Bambino Gesù Children Hospital and Research Institute, IRCCS, 00165 Rome, Italy.

    Papers in Europe PMC
  6. 06
    George-Sankoh I5 papers · 2025

    Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA.

    Papers in Europe PMC
  7. 07
    Goldstein A5 papers · 2025

    Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania

    Papers in Europe PMC
  8. 08
    MacMullen LE4 papers · 2025

    Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA.

    Papers in Europe PMC
  9. 09
    Ganetzky R3 papers · 2025

    Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, 3400 Civic Center Blvd, Philadelphia, PA 19104, United States of America; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA 19104, United States of America. Electronic address: GanetzkyR@chop.edu.

    Papers in Europe PMC
  10. 10
    Jacoby E3 papers · 2025

    Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer 5262000, Israel.

    Papers 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. 3 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial.

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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Observational and natural-history studies

3 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

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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).

Uncertain / not reviewed (1)

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 Kearns-Sayre syndrome — 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.

"Kearns-Sayre syndrome" OR "Kearns Sayre Syndrome"

Run this search on Europe PMC

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

"Kearns-Sayre syndrome" OR "Kearns Sayre Syndrome"

Study-type breakdown: 0 interventional · 3 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

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 2026-07-26T13:58:32.602Z