| 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 | GTC0037 |
| Trial ID | NCT00481546 |
| Disease | Leber Congenital Amaurosis | Retinal Disease |
| Altered gene | RPE65 |
| Therapeutic/Target gene | Therapeutic gene |
| Therapy | Gene transfer |
| Treatment | rAAV2-CBSB-hRPE65 |
| Phase | Phase1 |
| Recruitment status | Active, Not Recruiting |
| Title | Phase I Trial of Ocular Subretinal Injection of a Recombinant Adeno-Associated Virus (rAAV2-CBSB-hRPE65) Gene Vector to Patients With Retinal Disease Due to RPE65 Mutations (Clinical Trials of Gene Therapy for Leber Congenital Amaurosis) |
| Year | 2007 |
| Country | United States |
| Company sponsor | University of Pennsylvania |
| Other ID(s) | 547233|Grant: 1 U10 EY017280-01|UP IRB: 804582|UP IBC: 06-105|UF GCRC: 675|UF IBC RD: 27|WIRB: 20061300 |
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| Cohort 1 | |||||||||||
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