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Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR.
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.
Affiliation
  • Cehajic-Kapetanovic J; Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
  • Xue K; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Martinez-Fernandez de la Camara C; Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
  • Nanda A; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Davies A; Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
  • Wood LJ; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Salvetti AP; Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
  • Fischer MD; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Aylward JW; Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
  • Barnard AR; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Jolly JK; Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
  • Luo E; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Lujan BJ; Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
  • Ong T; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Girach A; Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
  • Black GCM; Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
  • Gregori NZ; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Davis JL; Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
  • Rosa PR; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Lotery AJ; Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
  • Lam BL; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Stanga PE; Nightstar Therapeutics Ltd, London, UK.
  • MacLaren RE; Casey Eye Institute, Oregon Health and Science University, Portland, OR, USA.
Nat Med ; 26(3): 354-359, 2020 03.
Article in En | MEDLINE | ID: mdl-32094925
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.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Therapy / Retinitis Pigmentosa / Genetic Diseases, X-Linked / Eye Proteins / Mutation Type of study: Clinical_trials Limits: Adult / Humans / Middle aged Language: En Journal: Nat Med Journal subject: BIOLOGIA MOLECULAR / MEDICINA Year: 2020 Type: Article
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Therapy / Retinitis Pigmentosa / Genetic Diseases, X-Linked / Eye Proteins / Mutation Type of study: Clinical_trials Limits: Adult / Humans / Middle aged Language: En Journal: Nat Med Journal subject: BIOLOGIA MOLECULAR / MEDICINA Year: 2020 Type: Article