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ORPHA:98890

Early-onset X-linked optic atrophy

medium confidenceDisorder

Also known as: OPA2 · Optic atrophy type 2 · Non-Leber type optic atrophy with early-onset

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

Publications

268

59.4th percentile

Trials

0

Interventional, condition-specific

Researchers

1,309

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

Early-onset X-linked optic atrophy is a rare form of optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (4)

non-Leber type optic atrophy with early-onset · optic atrophy 2 · optic atrophy 2, X-linked · optic atrophy type 2

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

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

    268 matched papers (118 in last 10 years) Source

  3. Phenotype characterisedPresent

    25 HPO annotations (e.g. Optic atrophy; Reduced visual acuity; Nystagmus) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  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)

25

Associated phenotypes · MONDO:0010698

  • Optic atrophy
  • Reduced visual acuity
  • Nystagmus
  • Emotional lability
  • Choreoathetosis

Showing 5 of 25 — 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?

268

268 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.

268 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).

118 in the last 10 years · medium confidence · 59.4th percentile (publications denominator)

Phrase hits: 268 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,309

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
    Carelli V5 papers · 2023

    10 IRCCS Istituto delle Scienze Neurologiche di Bologna, Bellaria Hospital, Via Altura 3, 40139 Bologna, Italy11 Neurology Unit, Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Via Altura 3, 40139 Bologna, Italy.

    Papers in Europe PMC
  2. 02
    Zhang X4 papers · 2026

    Clinical Research Unit, Xinhua Hospital, Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai, China.

    Papers in Europe PMC
  3. 03
    Barakat TS3 papers · 2026

    Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.

    Papers in Europe PMC
  4. 04
    He L3 papers · 2021

    Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne, England.

    Papers in Europe PMC
  5. 05
    Li Y3 papers · 2021

    Department of Ophthalmology, Kunming Maternity and Child Care Hospital, Kunming city, China.

    Papers in Europe PMC
  6. 06
    Wang X3 papers · 2023

    Ministry of Education Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, People's Republic of China.

    Papers in Europe PMC
  7. 07
    Adhikari K2 papers · 2015

    Private consultant, Kathmandu, Nepal.

    Papers in Europe PMC
  8. 08
    Adhikari S2 papers · 2015

    Tilganga Institute of Ophthalmology, Kathmandu, Nepal. srij_a@yahoo.com.

    Papers in Europe PMC
  9. 09
    Ashrafzadeh F2 papers · 2022

    Department of Pediatrics, Mashhad University of Medical Sciences, Mashhad, Iran.

    Papers in Europe PMC
  10. 10
    Barboni P2 papers · 2023

    Studio Oculistico D'Azeglio, Bologna, Italy.

    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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

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.

medium 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.

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 10 · after dedupe 10 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 10 · 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 (10)

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 Early-onset X-linked optic atrophy — 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.

"Early-onset X-linked optic atrophy" OR "Optic atrophy type 2" OR "Non-Leber type optic atrophy with early-onset" OR "optic atrophy 2" OR "optic atrophy 2, X-linked"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Optic atrophy, X-linked

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

"Early-onset X-linked optic atrophy" OR "Optic atrophy type 2" OR "Non-Leber type optic atrophy with early-onset" OR "optic atrophy 2" OR "optic atrophy 2, X-linked" OR "Optic atrophy, X-linked"

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

Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: OPA2

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 2026-07-27T05:40:18.552Z