Preclinical biodistribution and toxicology assessment of an AAV5-based subretinal modifier gene therapy for retinitis pigmentosa.

ABSTRACT: Retinitis pigmentosa (RP) is a multifactorial disease caused by mutations in over 100 genes, affecting ~1 in 4,000 people worldwide, and is characterized by abnormalities in the rod and cone photoreceptors. Gene therapy approaches are promising and have been established to provide an unprecedented treatment option for genetic diseases caused by mutation(s) in a single gene. However, traditional gene therapy approaches are not pragmatic for RP due to its heterogeneous genetic background. To this end, modifier gene therapy is a unique approach in which a transgene can correct or rescue the detrimental effects caused by mutations in unrelated gene(s). Nuclear receptor subfamily 2 group E member 3 (NR2E3) is a nuclear hormone receptor that exhibits the characteristics of a modifier gene. In pr

SUBMITTER: Upadhyay A 

PROVIDER: S-EPMC12605118 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature