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ORPHA:180

Choroideremia

low confidenceDisorder

Also known as: CHM · Tapetochoroidal dystrophy

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

2,469

Trials

19

Interventional, condition-specific

Researchers

1,125

Distinct authors in sample

Gene link

CHM

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Choroideremia (CHM) is an X-linked chorioretinal characterized by degeneration of the choroid, retinal pigment epithelium (RPE) and retina.

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 (2)

choroideremia · progressive choroidal 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.”

3/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — CHM

  2. LiteraturePresent

    2,469 matched papers (1,370 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

    19 matched on ClinicalTrials.gov

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 (CHM).

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?

2,469

2,469 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.

2,469 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).

1,370 in the last 10 years · low confidence

Phrase hits: 2,469 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,125

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
    MacLaren RE27 papers · 2026

    Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, University of Oxford, Oxford, UK.

    Papers in Europe PMC
  2. 02
    Jolly JK14 papers · 2025

    Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, NIHR Oxford Biomedical Research Centre, Oxford, UK.

    Papers in Europe PMC
  3. 03
    Taylor LJ14 papers · 2025

    Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, University of Oxford, Oxford, UK.

    Papers in Europe PMC
  4. 04
    Ayton LN9 papers · 2025

    Department of Optometry and Vision Sciences, The University of Melbourne, Melbourne, Victoria, Australia; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia; Ophthalmology, Department of Surgery, The University of Melbourne, Melbourne, Victoria, Australia. Electronic address: layton@unimelb.edu.au.

    Papers in Europe PMC
  5. 05
    Josan AS9 papers · 2025

    Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, NIHR Oxford Biomedical Research Centre, Oxford, UK.

    Papers in Europe PMC
  6. 06
    Gocuk SA8 papers · 2025

    Department of Optometry and Vision Sciences, The University of Melbourne, Melbourne, Victoria, Australia; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia; Ophthalmology, Department of Surgery, The University of Melbourne, Melbourne, Victoria, Australia.

    Papers in Europe PMC
  7. 07
    Edwards TL7 papers · 2025

    Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia; Ophthalmology, Department of Surgery, The University of Melbourne, Melbourne, Victoria, Australia.

    Papers in Europe PMC
  8. 08
    Cehajic-Kapetanovic J6 papers · 2024

    Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 9DU, UK.

    Papers in Europe PMC
  9. 09
    Lam BL6 papers · 2025

    Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, USA.

    Papers in Europe PMC
  10. 10
    Moosajee M6 papers · 2024

    UCL Institute of Ophthalmology, London EC1V 9EL, UK.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

19

interventional trials for this specific condition

19 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 27 July 2026

19 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 94.2th percentile).

low confidence · 94.2th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Observational and natural-history studies

9 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.

"Choroideremia" OR "Tapetochoroidal dystrophy" OR "progressive choroidal atrophy"

Run this search on Europe PMC

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

"Choroideremia" OR "Tapetochoroidal dystrophy" OR "progressive choroidal atrophy" OR "CHM"

Recall-expansion terms: CHM

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: 19 interventional · 9 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: CHM

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T12:47:08.599Z