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ORPHA:827

Stargardt disease

medium confidenceDisorder

Also known as: Fundus flavimaculatus · Stargardt 1

Publications

5,667

96.9th percentile

Trials

32

Interventional, condition-specific

Researchers

1,115

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare ophthalmic disorder that is usually characterized by a loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion.

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

fundus flavimaculatus

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

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

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    5,667 matched papers (3,722 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    32 matched on ClinicalTrials.gov (14 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

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?

5,667

5,667 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=5449) is 41.

5,667 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).

3,722 in the last 10 years · medium confidence · 96.9th percentile (publications denominator)

Phrase hits: 5,667 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,115

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
    Michaelides M7 papers · 2026

    Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, United Kingdom.

    Papers in Europe PMC
  2. 02
    Stingl K7 papers · 2026

    Department for Ophthalmology, University Eye Clinic, Eberhard Karls University of Tübingen, Tübingen, Germany.

    Papers in Europe PMC
  3. 03
    Tsang SH6 papers · 2026

    Department of Ophthalmology, Columbia University, New York, NY, USA. sht2@cumc.columbia.edu.

    Papers in Europe PMC
  4. 04
    Dhooge PPA5 papers · 2026

    From the Department of Ophthalmology (J.A.A.H.P., D.V., C.H.Z.L., P.P.A.D., C.B.H.), Radboud University Medical Center, Nijmegen, the Netherlands; Cognitive Neuroscience Department, Donders Institute for Brain, Cognition and Behaviour (J.A.A.H.P., D.V., C.H.Z.L., R.W.J.C., P.P.A.D., C.B.H.), Radboud University Medical Center, Nijmegen, the Netherlands.

    Papers in Europe PMC
  5. 05
    Holz FG5 papers · 2026

    Universitäts-Augenklinik Bonn, Venusberg-Campus 1, 53127, Bonn, Deutschland.

    Papers in Europe PMC
  6. 06
    Hoyng CB5 papers · 2026

    From the Department of Ophthalmology (J.A.A.H.P., D.V., C.H.Z.L., P.P.A.D., C.B.H.), Radboud University Medical Center, Nijmegen, the Netherlands; Cognitive Neuroscience Department, Donders Institute for Brain, Cognition and Behaviour (J.A.A.H.P., D.V., C.H.Z.L., R.W.J.C., P.P.A.D., C.B.H.), Radboud University Medical Center, Nijmegen, the Netherlands. Electronic address: Carel.Hoyng@Radboudumc.nl.

    Papers in Europe PMC
  7. 07
    Pas JAAH5 papers · 2026

    From the Department of Ophthalmology (J.A.A.H.P., D.V., C.H.Z.L., P.P.A.D., C.B.H.), Radboud University Medical Center, Nijmegen, the Netherlands; Cognitive Neuroscience Department, Donders Institute for Brain, Cognition and Behaviour (J.A.A.H.P., D.V., C.H.Z.L., R.W.J.C., P.P.A.D., C.B.H.), Radboud University Medical Center, Nijmegen, the Netherlands.

    Papers in Europe PMC
  8. 08
    Antonio-Aguirre B4 papers · 2026

    Wilmer Eye Institute, Johns Hopkins Hospital, Baltimore, Maryland.

    Papers in Europe PMC
  9. 09
    Bandello F4 papers · 2026

    Ophthalmology Department, IRCCS San Raffaele Scientific Institute, Milan, Italy.

    Papers in Europe PMC
  10. 10
    Doyle JJ4 papers · 2026

    Wilmer Eye Institute, Johns Hopkins Hospital, Baltimore, Maryland.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

32

interventional trials for this specific condition

32 interventional trials matched this specific condition name; 14 currently recruiting in our sample.

Data as of 27 July 2026

32 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 95.9th percentile).

medium confidence · 95.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

19 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

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 2026-07-26

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.

"Stargardt disease" OR "Fundus flavimaculatus" OR "Stargardt 1"

Run this search on Europe PMC

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

"Stargardt disease" OR "Fundus flavimaculatus" OR "Stargardt 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: 32 interventional · 19 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 short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T15:34:21.049Z