Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR.

doi:10.1038/s41591-020-0763-1

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Article

Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR.

Nature medicine - 1 Mar 2020

Cehajic-Kapetanovic Jasmina, Xue Kanmin, Martinez-Fernandez de la Camara Cristina, Nanda Anika, Davies Alexandra, Wood Laura J, Salvetti Anna Paola, Fischer M Dominik, Aylward James W, Barnard Alun R, Jolly Jasleen K, Luo Edmond, Lujan Brandon J, Ong Tuyen, Girach Aniz, Black Graeme C M, Gregori Ninel Z, Davis Janet L, Rosa Potyra R, Lotery Andrew J, Lam Byron L, Stanga Paulo E, MacLaren Robert E

Abstract excerpt

Retinal gene therapy has shown great promise in treating retinitis pigmentosa (RP), a primary photoreceptor degeneration that leads to severe sight loss in young people. In the present study, we report the first-in-human phase 1/2, dose-escalation clinical trial for X-linked RP caused by mutations in the RP GTPase regulator (RPGR) gene in 18 patients over up to 6 months of follow-up (https://clinicaltrials.gov/:...

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Identifiers

PMID: 32094925
DOI: 10.1038/s41591-020-0763-1
PMCID: PMC7104347

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