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Choroideremia is an X-linked retinal degeneration resulting from the progressive, centripetal loss of photoreceptors and choriocapillaris, secondary to the degeneration of the retinal pigment epithelium. Affected individuals present in late childhood or early teenage years with nyctalopia and progressive peripheral visual loss. Typically, by the fourth decade, the macula and fovea also degenerate, resulting in advanced sight loss. Currently, there are no approved treatments for this condition. Gene therapy offers the most promising therapeutic modality for halting or regressing functional loss. The aims of the current review are to highlight the lessons learnt from clinical trials in choroideremia, review endpoints, and propose a future strategy for clinical trials.

Original publication

DOI

10.3390/ijms241814354

Type

Journal article

Journal

Int J Mol Sci

Publication Date

20/09/2023

Volume

24

Keywords

AAV, CHM gene, REP1, antisense oligonucleotides, choroideremia, clinical trials, endpoints, gene therapy, nonsense suppression therapy, outcome measures