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ORPHA:104

Leber hereditary optic neuropathy

medium confidenceDisorder

Also known as: LHON · Leber optic atrophy

Publications

7,243

95th percentile

Trials

14

Interventional, condition-specific

Researchers

1,182

Distinct authors in sample

Gene link

MT-ND1, MT-ND4, MT-ND5

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

A rare optic characterized by sudden onset, painless central vision loss, loss of retinal ganglion cells and optic atrophy.

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)

Leber Hereditary optic atrophy

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.”

6/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — MT-ND1, MT-ND4, MT-ND5, MT-ND6, PRICKLE3

  2. LiteraturePresent

    7,243 matched papers (5,554 in last 10 years) Source

  3. Phenotype characterisedPresent

    50 HPO annotations (e.g. Optic atrophy; Leber optic atrophy; Dystonia) Source

  4. Animal modelPresent

    2 genotype models (Mus musculus) Source

  5. Orphan designationPresent

    2 FDA designations (2 FDA orphan-indication approvals) — e.g. lenadogene nolparvovec Source

  6. Interventional trialPresent

    14 matched on ClinicalTrials.gov (4 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 (MT-ND1, MT-ND4, MT-ND5…).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

50

Associated phenotypes · MONDO:0010788

  • Optic atrophy
  • Leber optic atrophy
  • Dystonia
  • Arrhythmia
  • Centrocecal scotoma

Showing 5 of 50 — 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)

2

Designations · 2 with FDA orphan-indication approval

  • FDA lenadogene nolparvovecLeber hereditary optic neuropathy · 2013-11-20 · Not FDA Approved for Orphan Indication
  • FDA idebenoneLeber's Hereditary Optic Neuropathy · 2006-10-31 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

8

Drugs / clinical candidates · MONDO_0010788

CTD chemicals (MyDisease.info)

2 associated chemicals · 76 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Ethambutol · marker/mechanism
  • Rotenone · marker/mechanism

Pathways: Oxidative phosphorylation; Retinol metabolism; Metabolic pathways; Antifolate resistance; MAPK signaling pathway; Cytokine-cytokine receptor interaction; NF-kappa B signaling pathway; Cardiac muscle contraction

MyDisease.info · MONDO:0010788

Literature

Is anyone studying this?

7,243

7,243 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

7,243 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).

5,554 in the last 10 years · medium confidence · 95th percentile (publications denominator)

Phrase hits: 2,746 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,182

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
    Carelli V11 papers · 2026

    IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.

    Papers in Europe PMC
  2. 02
    Yu-Wai-Man P11 papers · 2026

    Department of Clinical Neurosciences University of Cambridge Cambridge, United Kingdom

    Papers in Europe PMC
  3. 03
    Inoue K8 papers · 2026

    Department of Ophthalmology, Inouye Eye Hospital, 4-3 Kanda Surugadai, Chiyoda-ku, Tokyo, 101-0062, Japan.

    Papers in Europe PMC
  4. 04
    Ishikawa H8 papers · 2026

    Department of Orthoptics and Visual Science, School of Allied Health Sciences, Kitasato University, Kanagawa, Japan.

    Papers in Europe PMC
  5. 05
    Sadun AA8 papers · 2026

    Department of Ophthalmology, David Geffen School of Medicine, Los Angeles, CA, United States.

    Papers in Europe PMC
  6. 06
    Takai Y8 papers · 2026

    Department of Ophthalmology, Inouye Eye Hospital, 4-3 Kanda Surugadai, Chiyoda-ku, Tokyo, 101-0062, Japan. tkysyk3@gmail.com.

    Papers in Europe PMC
  7. 07
    Yamagami A8 papers · 2026

    Department of Ophthalmology, Inouye Eye Hospital, 4-3 Kanda Surugadai, Chiyoda-ku, Tokyo, 101-0062, Japan.

    Papers in Europe PMC
  8. 08
    Zhang Y7 papers · 2026

    Department of Ophthalmology, Taihe Hospital, Hubei University of Medicine, Shiyan, Hubei Province, People's Republic of China.

    Papers in Europe PMC
  9. 09
    Barboni P6 papers · 2026

    Vita-Salute San Raffaele University Milan, Milan, Italy. p.barboni@studiodazeglio.it.

    Papers in Europe PMC
  10. 10
    Wakakura M6 papers · 2026

    Department of Ophthalmology, Inouye Eye Hospital, 4-3 Kanda Surugadai, Chiyoda-ku, Tokyo, 101-0062, Japan.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

14

interventional trials for this specific condition

14 interventional trials matched this specific condition name; 4 currently recruiting in our sample. 10 trials are registered for hereditary optic neuropathy, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026

14 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 93.7th percentile).

medium confidence · 93.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

14 interventional trials matched after quoted-phrase search and title/condition post-filter.

Broader category: hereditary optic neuropathy

10

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.

Recruiting under the broader category

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 4 · after dedupe 4 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 4 · 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 (4)

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 Leber hereditary optic neuropathy — 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.

("Leber hereditary optic neuropathy" OR "Leber optic atrophy" OR "Leber Hereditary optic atrophy") OR ("MT-ND1" OR "MT-ND1 syndrome" OR "MT-ND1-related" OR "MT-ND4" OR "MT-ND4 syndrome" OR "MT-ND4-related" OR "MT-ND5" OR "MT-ND5 syndrome" OR "MT-ND5-related")

Run this search on Europe PMC

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

"Leber hereditary optic neuropathy" OR "Leber optic atrophy" OR "Leber Hereditary optic atrophy" OR "MT-ND1" OR "MT-ND4" OR "MT-ND5"

Recall-expansion terms: MT-ND1, MT-ND4, MT-ND5

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: 14 interventional · 3 observational · 1 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"hereditary optic neuropathy"

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: LHON

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 2026-07-26T12:26:08.686Z