NIH R01 · 2024
Translational Research for Retinal Degeneration Therapies
PROJECT SUMMARY . A multi-investigator, multi-center plan is proposed to develop a gene-based retinal therapy for inherited retinal maculopathies caused by mutations in the ABCA4 gene using a naturally-occurring canine model. A subgroup of these patients with ABCA4 bi-allelic truncation mutations show a loss of central cones during childhood that is followed by an “explosive” centrifugal progression of photoreceptor degeneration leading also to peripheral visual malfunction. The proposal builds on success achieved during the current grant period in moving AAV-based gene therapy for RPGR-XLRP to a human clinical trial, as well as developing and validating in a canine model a novel gene…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.