RecruitingNCT02435940
Ophthalmological
Choroideremia
Also known as CHM, tapetochoroidal dystrophy, REP1 deficiency
Choroideremia is an X-linked progressive retinal dystrophy caused by loss-of-function mutations in the CHM gene, which encodes Rab Escort Protein 1 (REP1), a protein required for normal vesicle trafficking in retinal cells. The disease is c
ORPHA:180 ↗Gene CHMPrevalence 1 per 50,000–100,000Onset Childhood (night blindness); progressive through adulthoodX-linked recessive
4
studies recruiting now
as of 7 Sept 2026
34
studies registered in total
as of 7 Sept 2026
2
countries with a recruiting site
as of 7 Sept 2026
29 Jan 2026
most recent study posted
among recruiting studies
Recruiting trials
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High Resolution Retinal Imaging
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Observational Study to Assess Endpoint Operational Feasibility & Measurement Properties in Patients with Retinal Degeneration
Showing the 4 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
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Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
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About Choroideremia
Choroideremia is an X-linked progressive retinal dystrophy caused by loss-of-function mutations in the CHM gene, which encodes Rab Escort Protein 1 (REP1), a protein required for normal vesicle trafficking in retinal cells. The disease is characterised by progressive degeneration of the choroid, retinal pigment epithelium, and photoreceptors beginning in the peripheral retina and advancing centripetally, ultimately leading to legal blindness in affected males, usually in mid-life. Female carriers are typically asymptomatic but exhibit patchy areas of chorioretinal atrophy and may have subtle visual symptoms.
Common clinical features
Night blindness beginning in childhoodProgressive concentric peripheral visual field lossPatches of chorioretinal atrophy visible on fundus examinationReduced dark-adapted ERG responsesPhotophobia in some patientsCentral vision preserved until late in the disease courseLegal blindness typically in the fourth to sixth decadeFemale carriers may have mild visual field defects
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
2 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Phase 2Timrepigene Emparvovec
Phase 1/2Simvastatin (Flolipid)
Before you apply
Things trial teams commonly ask about for Choroideremia. Not eligibility rules; those are set by each study.
- Molecular confirmation of a CHM pathogenic variant is required; because this is a single-gene disease, genetic testing is straightforward and results are usually unambiguous.
- Area of remaining intact retina (ellipsoid zone) measured by fundus autofluorescence and OCT is the key eligibility parameter in most gene therapy trials; preserve recent imaging records.
- Affected males of a broad age range are typically eligible, but trials often exclude those with very limited residual central vision; enrol while central acuity is still measurable.
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).