RPE65-related recessive retinopathy
MONDO:0100368A retinopathy, which may include conditions described as retinitis pigmentosa and Leber congenital amaurosis, caused by biallelic variants in the RPE65 gene.
Also known as: RPE65-related recessive retinopathy, recessive RPE65 retinopathy, LCA2, Leber congenital amaurosis 2, Leber congenital amaurosis caused by mutation in RPE65, Leber congenital amaurosis type 2, RP20, RPE65 Leber congenital amaurosis
33 clinical trials for this condition and its sub-types, 5 tagged with RPE65-related recessive retinopathy itself.
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Browse by category →Sub-types of RPE65-related recessive retinopathy
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Leber congenital amaurosis 2 3 trials
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Retinitis pigmentosa 20 0 trials
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Gene therapy brings light to rare eye disease in japanese patients
Disease control CompletedThis study tested a gene therapy called voretigene neparvovec in 4 Japanese patients with a rare inherited eye disease that causes vision loss. The treatment was given as an injection under the retina to replace the faulty gene. The goal was to see if it could safely improve ligh…
Phase 3 • Sponsor: Novartis Pharmaceuticals • Aim: Disease control
Last updated Jun 27, 2026 13:03 UTC
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Gene therapy safety check: luxturna registry wraps up
Knowledge-focused CompletedThis completed study tracked 87 patients who received Luxturna gene therapy for a rare inherited eye condition that causes blindness. Researchers monitored side effects and pregnancy outcomes for up to 5 years after treatment. The goal was to gather real-world safety data, not to…
Sponsor: Spark Therapeutics, Inc. • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:51 UTC