CDHR1

CDHR1 refers to an investigational gene therapy program utilizing adeno-associated virus (AAV) vectors to deliver a functional copy of the CDHR1 gene. CDHR1 (Cadherin-related family member 1) is a non-classical cadherin protein specifically expressed in the outer segments of rod and cone photoreceptors, where it plays a vital role in maintaining structural organization and integrity. Mutations in the CDHR1 gene lead to progressive retinal degeneration, manifesting as cone-rod dystrophy, macular dystrophy, or retinitis pigmentosa. The gene therapy aims to restore CDHR1 protein expression through subretinal injection, thereby stabilizing photoreceptor structure and preventing cell death. Preclinical evidence in mouse models has shown that CDHR1 supplementation can restore full-length photoreceptor outer segments and provide long-term functional and behavioral rescue, suggesting potential efficacy in treating human patients with CDHR1-associated retinal dystrophies.

Other names

Cadherin-related family member 1CDHR1 gene therapyCDHR-1 gene therapyCDHR 1 gene therapyAAV-CDHR1AAV-CDHR-1AAV-CDHR 1MT-protocadherinPCDH24PCDH-24PCDH 24