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ORPHA:65

Leber congenital amaurosis

high confidenceDisorder

Also known as: Amaurosis congenita of Leber

Publications

10,044

95.9th percentile

Trials

22

Interventional, condition-specific

Researchers

1,268

Distinct authors in sample

Gene link

CCT2, IFT38, LRAT

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

Leber amaurosis (LCA) is a retinal defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life.

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)

amaurosis congenita of Leber

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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — CCT2, IFT38, LRAT, NXNL1, PRPH2

  2. LiteraturePresent

    10,044 matched papers (6,605 in last 10 years) Source

  3. Phenotype characterisedPresent

    236 HPO annotations (e.g. Keratoconus; Nyctalopia; Eye poking) Source

  4. Animal modelPresent

    46 genotype models (Danio rerio, 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 trialPresent

    22 matched on ClinicalTrials.gov (3 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 (CCT2, IFT38, LRAT…).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

236

Associated phenotypes · MONDO:0018998

  • Keratoconus
  • Nyctalopia
  • Eye poking
  • Pigmentary retinopathy
  • Absent foveal reflex

Showing 5 of 236 — open Monarch for the full list.

Animal models (Monarch / Alliance)

46

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

6

Drugs / clinical candidates · MONDO_0018998

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

10,044

10,044 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.

10,044 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).

6,605 in the last 10 years · high confidence · 95.9th percentile (publications denominator)

Phrase hits: 5,547 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,268

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
    Jalali S6 papers · 2025

    Srimati Kanuri Santhamma Center for Vitreoretinal Diseases, Anant Bajaj Retina Institute, Kallam Anji Reddy Campus, L V Prasad Eye Institute, Hyderabad, India.

    Papers in Europe PMC
  2. 02
    Michaelides M6 papers · 2026

    Moorfields Eye Hospital (M.D.V., T.A.C.deG., O.A.M., G.A., A.R.W., M.M.), London, United Kingdom; UCL Institute of Ophthalmology, University College London (M.D.V., T.A.C.deG., O.A.M., G.A., A.R.W., M.M.), London, United Kingdom. Electronic address: michel.michaelides@ucl.ac.uk.

    Papers in Europe PMC
  3. 03
    Kannabiran C5 papers · 2025

    Kallam Anji Reddy Molecular Genetics Laboratory, L V Prasad Eye Institute, Hyderabad, India.

    Papers in Europe PMC
  4. 04
    Liu Y5 papers · 2026

    Eye Institute of Xiamen University, Fujian Provincial Key Laboratory of Ophthalmology and Visual Science, School of Medicine, Xiamen University, Xiamen, China.

    Papers in Europe PMC
  5. 05
    Parameswarappa DC5 papers · 2025

    Srimati Kanuri Santhamma Center for Vitreoretinal Diseases, Anant Bajaj Retina Institute, Kallam Anji Reddy Campus, L V Prasad Eye Institute, Hyderabad, India.

    Papers in Europe PMC
  6. 06
    Vincent A5 papers · 2026

    Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.

    Papers in Europe PMC
  7. 07
    Wang Y5 papers · 2026

    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangzhou 510060, China.

    Papers in Europe PMC
  8. 08
    Chen R4 papers · 2026

    Brunson Center for Translational Vision Research, Department of Ophthalmology and Visual Sciences, Gavin Herbert Eye Institute, and.

    Papers in Europe PMC
  9. 09
    Fenner BJ4 papers · 2025

    Singapore National Eye Center, 168751, Singapore, Singapore.

    Papers in Europe PMC
  10. 10
    Héon E4 papers · 2026

    Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada. Electronic address: elise.heon@sickkids.ca.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

22

interventional trials for this specific condition

22 interventional trials matched this specific condition name; 3 currently recruiting in our sample.

Data as of 11 September 2026 · last trial check 28 July 2026

22 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 95.2th percentile).

high confidence · 95.2th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

8 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

General rare disease registries you may be eligible for

These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.

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 Leber congenital amaurosis — 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 congenital amaurosis" OR "Amaurosis congenita of Leber" OR "Amaurosis congenita of the Leber") OR ("CCT2" OR "CCT2 syndrome" OR "CCT2-related" OR "IFT38" OR "IFT38 syndrome" OR "IFT38-related" OR "LRAT" OR "LRAT syndrome" OR "LRAT-related")

Run this search on Europe PMC

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

"Leber congenital amaurosis" OR "Amaurosis congenita of Leber" OR "Amaurosis congenita of the Leber"

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: 22 interventional · 8 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 2026-07-26T12:17:53.658Z