Basic Information

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

GTO ID GTC0056
Trial ID NCT00643747
Disease Retinal Degeneration
Altered gene RPE65
Therapeutic/Target gene Therapeutic gene
TherapyGene transfer
Treatment tgAAG76
PhasePhase1|Phase2
Recruitment statusCompleted
TitleAn Open-label Dose Escalation Study of an Adeno-associated Virus Vector (AAV2/2-hRPE65p-hRPE65) for Gene Therapy of Severe Early-onset Retinal Degeneration
Year2008
CountryUnited Kingdom
Company sponsorUniversity College, London
Other ID(s)06/061|2006-001571-37
Vector information
Vectoradeno-associated virus
ConstructrAAV2/2.hRPE65p.hRPE65
Vector typerecombinant adeno-associated virus serotype 2/2 (rAAV2/2) vector
Transgene/Inserted genehuman RPE65 complementary DNA (cDNA)
Regulatory element1400-bp fragment of the human RPE65 promoter, bovine growth hormone polyadenylation site
Vector production methodThe vector was produced by Targeted Genetics Corporation according to Good Manufacturing Practice guidelines with the use of a B50 packaging cell line,23 an adenovirus-adeno-associated virus hybrid shuttle vector containing the tgAAG76 vector genome, and an adenovirus 5 helper virus.

Clinical Result

Cohort1: dose level 1
Administration route intravenous infusion
Dosage 1E11 vp
Pts 4
Age Child, Adult
Outcome Improvements in retinal sensitivity, reduction in central retinal thickness
References PMID: 18441371 | 25938638
Cohort2: dose level 2
Administration route intravenous infusion
Dosage 1E12 vp
Pts 8
Age Child, Adult
Outcome Improvements in retinal sensitivity, reduction in central retinal thickness
Adverse reactions 3/8(mild or transient intraocular inflammation)
References PMID: 18441371 | 25938638

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