ORPHA:364055
Severe early-childhood-onset retinal dystrophy
Also known as: EOSRD · Early-onset severe retinal dystrophy · SECORD
Publications
2,819
Trials
10
Interventional, condition-specific
Researchers
1,528
Distinct authors in sample
Gene link
ABCA4, CNGB3
Definitive
Readiness
3/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009549
- OMIM:248200
- UMLS:C1855465
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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — ABCA4, CNGB3
- LiteraturePresent
2,819 matched papers (1,446 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
10 matched on ClinicalTrials.gov (5 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)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
2,819
2,819 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=5449) is 41.
2,819 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
1,446 in the last 10 years · low confidence
Phrase hits: 2,819 · MeSH hits: 0
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.
- 01
- 02Michaelides 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 - 03Daich Varela M11 papers · 2025
UCL Institute of Ophthalmology, University College London, London, UK.
Papers in Europe PMC - 04Moosajee M10 papers · 2026
Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom.
Papers in Europe PMC - 05Webster AR10 papers · 2026
Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom.
Papers in Europe PMC - 06Mahroo OA8 papers · 2025
Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom.
Papers in Europe PMC - 07Rodriguez-Martinez AC8 papers · 2026
UCL Institute of Ophthalmology, 11-43 Bath Street, London, EC1V 9EL, UK.
Papers in Europe PMC - 08Coleman RL7 papers · 2026
Gynecologic Oncology, Texas Oncology Houston Memorial City, Shenandoah, Texas, USA.
Papers in Europe PMC - 09Georgiou 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 - 10Pothuri 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?
10
interventional trials for this specific condition
10 interventional trials matched this specific condition name; 5 currently recruiting in our sample.
Data as of 27 July 2026
10 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 91.7th percentile).
low confidence · 91.7th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
10 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT07063251·RECRUITING·An Clinical Study Evaluating the Safety, Tolerability, and efficAcy of HG005 in StaRgardT Disease
Conditions: Stargardt Disease Type 1 (STGD1)·Matched via name phrase
- NCT06467344·RECRUITING·Study to Evaluate ACDN-01 in ABCA4-related Stargardt Retinopathy (STELLAR)
Conditions: Stargardt Disease · Cone Rod Dystrophy · Juvenile Macular Degeneration · Stargardt Disease 1·Matched via recall expansion
- NCT02402660·ENROLLING BY INVITATION·Phase 2 Tolerability and Effects of ALK-001 on Stargardt Disease
Conditions: Stargardt Disease · Stargardt Macular Degeneration · Stargardt Macular Dystrophy · Autosomal Recessive Stargardt Disease 1 (ABCA4-related)·Matched via recall expansion
- NCT07241169·RECRUITING·The Safety and Efficacy of ZVS106e in the Treatment of IRDs Caused by Biallelic Mutations in ABCA4
Conditions: Stargardt·Matched via recall expansion
- NCT07002398·RECRUITING·Safety and Preliminary Efficacy of VG801 in Patients With ABCA4 Mutation-associated Retinal Dystrophy (Stargardt Disease)
Conditions: Retinal Dystrophy Due to Biallelic ABCA4 Mutations · Stargardt Disease 1·Matched via recall expansion
Observational and natural-history studies
5 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
- NCT06435000·RECRUITING·An Observational Study in Subjects to Follow the Progression of Stargardt Disease Type 1 (STGD1) Caused by Bi-Allelic Autosomal Recessive Mutations in the ABCA4 Gene
Conditions: Stargardt · Stargardt's Disease · Stargardt Disease · STGD1·Matched via name phrase
- NCT01145196·RECRUITING·Genotype-Phenotype Study of Patients With Plaquenil -Induced Retinal Toxicity, With Evaluation of the ABCA4 Gene
Conditions: Genotype · Retinal Disease·Matched via recall expansion
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This 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"
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" OR "ABCA4" OR "CNGB3"
Recall-expansion terms: ABCA4, CNGB3
Interventional trials matched via: phrase, recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 10 interventional · 5 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
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 (2819) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-27T14:47:31.685Z