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ORPHA:364055

Severe early-childhood-onset retinal dystrophy

low confidenceDisorder

Also known as: EOSRD · Early-onset severe retinal dystrophy · SECORD

Publications

7,771

Trials

1

Interventional, condition-specific

Researchers

1,528

Distinct authors in sample

Gene link

ABCA4, CNGB3

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

Severe early childhood onset retinal (SECORD) is an inherited retinal characterized by a severe night blindness, retinal and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

Stargardt disease type 1 · early-onset severe retinal dystrophy

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 — ABCA4, CNGB3

  2. LiteraturePresent

    7,771 matched papers (4,605 in last 10 years) Source

  3. Phenotype characterisedPresent

    43 HPO annotations (e.g. Macular pseudocoloboma; Retinal detachment; Nystagmus) Source

  4. Animal modelNot found

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

  5. Orphan designationPresent

    1 FDA designation (1 FDA orphan-indication approval) — e.g. emixustat Source

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov (1 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 (ABCA4, CNGB3).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

43

Associated phenotypes · MONDO:0009549

  • Macular pseudocoloboma
  • Retinal detachment
  • Nystagmus
  • Abnormal macular morphology
  • Retinal pigment epithelial mottling

Showing 5 of 43 — 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)

1

Designation · 1 with FDA orphan-indication approval

  • FDA emixustatStargardt disease STGD · 2017-01-04 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

1

Drugs / clinical candidates · MONDO_0009549

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

7,771

7,771 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.

7,771 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).

4,605 in the last 10 years · low confidence

Phrase hits: 2,819 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,528

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
    Secord AA30 papers · 2026

    Duke University, Durham, NC, USA.

    Papers in Europe PMC
  2. 02
    Michaelides M22 papers · 2025

    Moorfields Eye Hospital (S.S, L.F., K.F., G.W., A.W., O.M., A.R., M.G., M.MM), London, United Kingdom; UCL Institute of Ophthalmology (S.S., K.F., Y.F.-K., A.W., O.M., A.R., M.G., M.M.), University College London, London, United Kingdom. Electronic address: michel.michaelides@ucl.ac.uk.

    Papers in Europe PMC
  3. 03
    Daich Varela M11 papers · 2025

    UCL Institute of Ophthalmology, University College London, London, UK.

    Papers in Europe PMC
  4. 04
    Moosajee M10 papers · 2026

    Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom.

    Papers in Europe PMC
  5. 05
    Webster AR10 papers · 2026

    Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom.

    Papers in Europe PMC
  6. 06
    Mahroo OA8 papers · 2025

    Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom.

    Papers in Europe PMC
  7. 07
    Rodriguez-Martinez AC8 papers · 2026

    UCL Institute of Ophthalmology, 11-43 Bath Street, London, EC1V 9EL, UK.

    Papers in Europe PMC
  8. 08
    Coleman RL7 papers · 2026

    Gynecologic Oncology, Texas Oncology Houston Memorial City, Shenandoah, Texas, USA.

    Papers in Europe PMC
  9. 09
    Georgiou M7 papers · 2024

    Moorfields Eye Hospital (S.S, L.F., K.F., G.W., A.W., O.M., A.R., M.G., M.MM), London, United Kingdom; UCL Institute of Ophthalmology (S.S., K.F., Y.F.-K., A.W., O.M., A.R., M.G., M.M.), University College London, London, United Kingdom; Jones Eye Institute (M.G.), University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.

    Papers in Europe PMC
  10. 10
    Pothuri B7 papers · 2026

    Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, New York University Langone Health, New York, NY, United States of America.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; 1 currently recruiting in our sample.

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

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

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

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 Severe early-childhood-onset retinal dystrophy — 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.

("Severe early-childhood-onset retinal dystrophy" OR "EOSRD" OR "Early-onset severe retinal dystrophy" OR "SECORD" OR "Stargardt disease type 1") OR ("ABCA4" OR "ABCA4 syndrome" OR "ABCA4-related" OR "CNGB3" OR "CNGB3 syndrome" OR "CNGB3-related")

Run this search on Europe PMC

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

"Severe early-childhood-onset retinal dystrophy" OR "EOSRD" OR "Early-onset severe retinal dystrophy" OR "SECORD" OR "Stargardt disease type 1"

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: 1 interventional · 1 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
  • Publication count (7771) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T14:47:31.685Z