Basic Information

Gene symbol RPE65 Synonyms BCO3, LCA2, RP20, mRPE65, p63, rd12, sRPE65 Type of gene protein-coding
Description retinoid isomerohydrolase RPE65

GTO ID GTC0590
Trial ID 2016-002109-20
Disease Leber Congenital Amaurosis
Altered gene RPE65
Therapeutic/Target gene Therapeutic gene
TherapyGene transfer
Treatment voretigene neparvovec|Luxturna
PhasePhase3
Recruitment statusActive, Not Recruiting
TitleA Safety and Efficacy Study in Subjects with Leber Congenital Amaurosis (LCA) Using Adeno-Associated Viral Vector to Deliver the Gene for Human RPE65 to the Retinal Pigment Epithelium (RPE) [AAV2-hRPE65v2-301]
Year2016
CountryUnited States
Company sponsorSpark Therapeutics, Inc.
Other ID(s)NCT00999609
Vector information
Vectoradeno-associated virus
ConstructAAV2-hRPE65v2
Vector typeadeno-associated virus serotype 2 (AAV2) vector
Transgene/Inserted genehuman RPE65 cDNA with a modified Kozak sequence engineered at the translational start site
Regulatory elementa hybrid chicken β-actin promoter; a cytomegalovirus enhancer

Clinical Result

Cohort 1
Administration route intraocular injection
Dosage 5E12 organisms/ml
Pts 21
Age Child, Adult
Outcome At 1 year, mean bilateral MLMT change score was 1.8 (SD 1.1) light levels in the intervention group versus 0.2 (1.0) in the control group (difference of 1.6, 95% CI 0.72-2.41, p=0.0013). 13 (65%) of 20 intervention participants, but no control participants, passed MLMT at the lowest luminance level tested (1 lux), demonstrating maximum possible improvement. No product-related serious adverse events or deleterious immune responses occurred.
Adverse reactions 2/20(Nervous system disorders; Surgical and medical procedures)
References PMID: 28712537

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