RecruitingPhase 3NCT06891443
Ophthalmological
Leber Congenital Amaurosis
Also known as LCA, congenital rod-cone dystrophy, RPE65 blindness
Leber Congenital Amaurosis is a severe inherited retinal dystrophy that presents at birth or within the first year of life, making it the most common cause of inherited blindness in children. It results from mutations in over 25 genes invol
ORPHA:65 ↗Gene RPE65Gene CEP290Gene GUCY2DGene CRX (multiple)Prevalence 2–3 per 100,000Onset Congenital / infantileAutosomal recessive (most subtypes)
4
studies recruiting now
as of 7 Sept 2026
37
studies registered in total
as of 7 Sept 2026
11
countries with a recruiting site
as of 7 Sept 2026
24 Mar 2025
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNCT02435940
Inherited Retinal Degenerative Disease Registry
RecruitingNCT01793168
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
RecruitingPhase 1 / Phase 2NCT05906953
Safety and Efficacy Trial of HG004 for Leber Congenital Amaurosis Related to Rpe65 Gene Mutations (STAR)
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 Leber Congenital Amaurosis
Leber Congenital Amaurosis is a severe inherited retinal dystrophy that presents at birth or within the first year of life, making it the most common cause of inherited blindness in children. It results from mutations in over 25 genes involved in photoreceptor development and function, with RPE65 and CEP290 being the most frequently implicated. The first approved gene therapy for an inherited retinal disease (voretigene neparvovec) targets the RPE65 subtype, marking a landmark in rare disease treatment.
Common clinical features
Severe visual impairment or blindness from birthNystagmus (involuntary rapid eye movements)Sluggish or absent pupillary light responsePhotophobia (light sensitivity)Oculodigital sign (eye poking or pressing)Extinguished or severely reduced electroretinogram (ERG)High hyperopia (farsightedness) in most subtypesKeratoconus in older patients
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
1 approved treatment and 3 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Approved: Voretigene Neparvovec (Luxturna)
Phase 2/3Sepofarsen
Phase 1/2Brinretigene Vesgedparvovec
Phase 1Zuretinol Acetate
Before you apply
Things trial teams commonly ask about for Leber Congenital Amaurosis. Not eligibility rules; those are set by each study.
- Confirm your specific gene mutation (e.g., RPE65, CEP290) before enrolling, as most trials are gene-specific and require documented pathogenic variants via molecular testing.
- Residual retinal tissue is a common eligibility requirement; optical coherence tomography (OCT) and ERG are used to assess this, so have recent imaging available.
- Age ranges vary widely by trial; some gene therapy trials prefer younger patients with more intact photoreceptor layers, so early enrolment inquiry is advisable.
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).