RecruitingNCT06491615
Ophthalmological
Achromatopsia
Also known as Rod monochromacy, total color blindness, CNGA3/CNGB3 cone dystrophy
Achromatopsia is a congenital, stationary (non-progressive) retinal disorder caused by the complete absence of functional cone photoreceptors, resulting in total colour blindness, severely reduced visual acuity, extreme light sensitivity, a
ORPHA:49382 ↗Gene CNGA3Gene CNGB3Gene GNAT2Prevalence 1 per 30,000Onset CongenitalAutosomal recessive
3
studies recruiting now
as of 7 Sept 2026
13
studies registered in total
as of 7 Sept 2026
2
countries with a recruiting site
as of 7 Sept 2026
25 Jul 2025
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNCT02435940
Inherited Retinal Degenerative Disease Registry
RecruitingNCT07085533
Natural History Study of Inherited Retinal Diseases
Showing the 3 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 Achromatopsia
Achromatopsia is a congenital, stationary (non-progressive) retinal disorder caused by the complete absence of functional cone photoreceptors, resulting in total colour blindness, severely reduced visual acuity, extreme light sensitivity, and nystagmus from birth. The most common causative genes, CNGA3 and CNGB3, encode subunits of the cyclic nucleotide-gated channel essential for phototransduction in cone cells. Because the cone cells themselves are often structurally preserved despite being non-functional, gene therapy approaches aimed at restoring cone function have shown considerable promise in early-phase clinical trials.
Common clinical features
Complete absence of colour discrimination (total colour blindness)Best-corrected visual acuity of approximately 20/200Severe photophobia and hemeralopia (day blindness)Pendular nystagmus from birthPreference for low-light environmentsFoveal hypoplasia on OCTNormal or near-normal rod-mediated ERG with absent cone ERGReduced contrast sensitivity
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
1 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Phase 1/2Aguracingene Cadoparvovec
Before you apply
Things trial teams commonly ask about for Achromatopsia. Not eligibility rules; those are set by each study.
- Gene-specific eligibility is strict; CNGA3 and CNGB3 trials are separate programmes, so molecular confirmation of your specific pathogenic variant is mandatory.
- Foveal cone structure assessed by adaptive optics or high-resolution OCT is used to determine whether sufficient residual cone cells remain to benefit from gene therapy; recent imaging is important.
- Trials may cap enrolment by age, often preferring younger patients; contact trial coordinators early as paediatric cohorts can fill quickly.
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).