Gene therapy clinical trials

Gene: RPE65

Green List (high evidence)

RPE65 (RPE65, retinoid isomerohydrolase)
EnsemblGeneIds (GRCh38): ENSG00000116745
EnsemblGeneIds (GRCh37): ENSG00000116745
OMIM: 180069, Gene2Phenotype
RPE65 is in 12 panels

1 review

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Biological: AAV RPE65 - https://ClinicalTrials.gov/show/NCT02781480, Biological: AAV OPTIRPE65 - https://ClinicalTrials.gov/show/NCT02946879, Genetic: GS010,Other: Sham Intravitreal Injection - https://ClinicalTrials.gov/show/NCT03406104, Biological: tgAAG76 (rAAV 2/2.hRPE65p.hRPE65) - https://ClinicalTrials.gov/show/NCT00643747
Created: 12 May 2018, 8:57 a.m.

Phenotypes
Leber Congenital Amaurosis; Leber Hereditary Optic Neuropathy; Eye Diseases; Eye Diseases, Hereditary; Retinal Diseases; Retinal Degeneration

Details

Sources
  • Expert Review Green
  • ClinicalTrials.gov
Phenotypes
  • Leber Congenital Amaurosis
  • Leber Hereditary Optic Neuropathy
  • Eye Diseases
  • Eye Diseases, Hereditary
  • Retinal Diseases
  • Retinal Degeneration
OMIM
180069
Clinvar variants
Variants in RPE65
Penetrance
None
Panels with this gene

History Filter Activity

12 May 2018, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

RPE65 was added to Gene therapy clinical trials panel. Sources: ClinicalTrials.gov,Expert Review Green

12 May 2018, Gel status: 4

Created

Ellen McDonagh (Genomics England Curator)

RPE65 was created by Ellen McDonagh