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Choroideremia: The Endpoint Endgame.


ABSTRACT: 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.

SUBMITTER: Abdalla Elsayed MEA 

PROVIDER: S-EPMC10532430 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature

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Choroideremia: The Endpoint Endgame.

Abdalla Elsayed Maram E A MEA   Taylor Laura J LJ   Josan Amandeep S AS   Fischer M Dominik MD   MacLaren Robert E RE  

International journal of molecular sciences 20230920 18


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. G  ...[more]

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