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
38 clinical trials for this condition and its sub-types.
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Broader categories
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One-Time gene injection aims to restore sight in rare eye disease
Disease control OngoingThis phase 3 trial tests a gene therapy called LX101 in 30 people with inherited retinal dystrophy caused by RPE65 mutations. Participants receive a single injection of LX101 into the eye, while a control group gets no treatment. The study measures changes in functional vision an…
Phase: PHASE3 • Sponsor: Innostellar Biotherapeutics Co.,Ltd • Aim: Disease control
Last updated Jun 27, 2026 09:10 UTC
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Experimental gene therapy aims to restore sight in rare eye disease
Disease control OngoingThis early study tests a gene therapy called LX101 in 9 people with a rare inherited eye disease caused by RPE65 gene mutations. The therapy delivers a working copy of the gene into the retina via a single injection. The main goals are to check safety and see if it can improve vi…
Phase: PHASE1 • Sponsor: Innostellar Biotherapeutics Co.,Ltd • Aim: Disease control
Last updated Jun 27, 2026 09:10 UTC
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Newborn screening study aims to catch rare diseases at birth
Diagnosis OngoingThis study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…
Sponsor: RTI International • Aim: Diagnosis
Last updated Jul 03, 2026 00:00 UTC
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Free eye tests aim to catch vision loss early in harlem and washington heights
Knowledge-focused OngoingThis study offers free vision screenings to underserved adults over 40 living in affordable housing in Harlem and Washington Heights. The goal is to find eye problems like glaucoma, cataracts, and diabetic retinopathy early and connect people with follow-up care. About 749 partic…
Phase: NA • Sponsor: Columbia University • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:54 UTC