| Gene symbol | RPE65 | Synonyms | BCO3, LCA2, RP20, mRPE65, p63, rd12, sRPE65 | Type of gene | protein-coding | |
| Chromosome | 1 | Map location | 1p31.3 | dbXrefs | Entrez:6121 MIM:180069 HGNC:HGNC:10294 Ensembl:ENSG00000116745 AllianceGenome:HGNC:10294 | |
| Description | retinoid isomerohydrolase RPE65 | |||||
| GTO ID | GTC2429 |
| Trial ID | NCT04516369 |
| Disease | Retinal Dystrophy |
| Altered gene | RPE65 |
| Therapeutic/Target gene | Therapeutic gene |
| Therapy | Gene transfer |
| Treatment | voretigene neparvovec|Luxturna |
| Phase | Phase3 |
| Recruitment status | Active, Not Recruiting |
| Title | An Open-label, Single-arm Study to Provide Efficacy and Safety Data of Voretigene Neparvovec Administered as Subretinal Injection in Japanese Patients With Biallelic RPE65 Mutation-associated Retinal Dystrophy |
| Year | 2020 |
| Country | Japan |
| Company sponsor | Novartis Pharmaceuticals |
| Other ID(s) | CLTW888A11301|2019-003781-41 |
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| Cohort 1 | |||||||||
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