Ontology highlight
ABSTRACT:
SUBMITTER: Cehajic-Kapetanovic J
PROVIDER: S-EPMC7104347 | biostudies-literature | 2020 Mar
REPOSITORIES: biostudies-literature
Cehajic-Kapetanovic Jasmina J Xue Kanmin K Martinez-Fernandez de la Camara Cristina C Nanda Anika A Davies Alexandra A Wood Laura J LJ Salvetti Anna Paola AP Fischer M Dominik MD Aylward James W JW Barnard Alun R AR Jolly Jasleen K JK Luo Edmond E Lujan Brandon J BJ Ong Tuyen T Girach Aniz A Black Graeme C M GCM Gregori Ninel Z NZ Davis Janet L JL Rosa Potyra R PR Lotery Andrew J AJ Lam Byron L BL Stanga Paulo E PE MacLaren Robert E RE
Nature medicine 20200224 3
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/: NCT03116113). The primary outcome of the study was safety, and secondary outcomes in ...[more]