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Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR
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Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR
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Journal Article
Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR
2020
Overview
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.
Early results from a first-in-human retinal gene therapy trial for X-linked retinitis pigmentosa indicate that, at an intermediate dose, AAV8-
RPGR
is safe and in a subset of patients can lead to gains in visual function.
Publisher
Nature Publishing Group US,Nature Publishing Group
Subject
/ Acuity
/ Adult
/ Biomedical and Life Sciences
/ Complications and side effects
/ Eye Proteins - therapeutic use
/ Genetic Diseases, X-Linked - genetics
/ Genetic Diseases, X-Linked - therapy
/ Humans
/ Letter
/ Mutation
/ Patients
/ Retina
/ Retinitis Pigmentosa - genetics
/ Retinitis Pigmentosa - physiopathology
/ Retinitis Pigmentosa - therapy
/ Safety
/ Steroids
