@article{f83a75813349400b9d88e32297a4131c,
title = "Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR",
abstract = "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 included visual acuity, microperimetry and central retinal thickness. Apart from steroid-responsive subretinal inflammation in patients at the higher doses, there were no notable safety concerns after subretinal delivery of an adeno-associated viral vector encoding codon-optimized human RPGR (AAV8-coRPGR), meeting the pre-specified primary endpoint. Visual field improvements beginning at 1 month and maintained to the last point of follow-up were observed in six patients.",
author = "Jasmina Cehajic-Kapetanovic and Kanmin Xue and {Martinez-Fernandez de la Camara}, Cristina and Anika Nanda and Alexandra Davies and Wood, {Laura J.} and Salvetti, {Anna Paola} and Fischer, {M. Dominik} and Aylward, {James W.} and Barnard, {Alun R.} and Jolly, {Jasleen K.} and Edmond Luo and Lujan, {Brandon J.} and Tuyen Ong and Aniz Girach and Black, {Graeme C.M.} and Gregori, {Ninel Z.} and Davis, {Janet L.} and Rosa, {Potyra R.} and Lotery, {Andrew J.} and Lam, {Byron L.} and Stanga, {Paulo E.} and MacLaren, {Robert E.}",
note = "Funding Information: We thank all trial participants for their commitment to the trial and for attending their follow-up visits, and staff members of the Eye Research Group Oxford for their support throughout the study. The trial was sponsored by Nightstar Therapeutics, now Biogen Inc. (https://clinicaltrials.gov/: NCT03116113), with additional research infrastructure support provided by the National Institute for Health Research (NIHR), Oxford Biomedical Research Centre. The views expressed are those of the authors and not necessarily those of the NIHR or the UK Department of Health. We thank B. Lujan, Medical Director of the Casey Eye Institute Reading Center, Portland, OR, USA and the Doheny Image Reading Center, Doheny Eye Institute, Los Angeles, CA, USA, both of which independently reviewed and verified the findings from the SD-OCT data. Publisher Copyright: {\textcopyright} 2020, The Author(s), under exclusive licence to Springer Nature America, Inc.",
year = "2020",
month = mar,
day = "1",
doi = "10.1038/s41591-020-0763-1",
language = "English (US)",
volume = "26",
pages = "354--359",
journal = "Nature medicine",
issn = "1078-8956",
publisher = "Nature Publishing Group",
number = "3",
}