Your browser doesn't support javascript.
loading
Beneficial effects on vision in patients undergoing retinal gene therapy for choroideremia.
Xue, Kanmin; Jolly, Jasleen K; Barnard, Alun R; Rudenko, Anna; Salvetti, Anna P; Patrício, Maria I; Edwards, Thomas L; Groppe, Markus; Orlans, Harry O; Tolmachova, Tanya; Black, Graeme C; Webster, Andrew R; Lotery, Andrew J; Holder, Graham E; Downes, Susan M; Seabra, Miguel C; MacLaren, Robert E.
Afiliación
  • Xue K; Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
  • Jolly JK; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Barnard AR; Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
  • Rudenko A; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Salvetti AP; Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
  • Patrício MI; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Edwards TL; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Groppe M; Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
  • Orlans HO; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Tolmachova T; Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
  • Black GC; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Webster AR; Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
  • Lotery AJ; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Holder GE; Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
  • Downes SM; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Seabra MC; Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
  • MacLaren RE; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Nat Med ; 24(10): 1507-1512, 2018 10.
Article en En | MEDLINE | ID: mdl-30297895
Retinal gene therapy is increasingly recognized as a novel molecular intervention that has huge potential in treating common causes of blindness, the majority of which have a genetic aetiology1-5. Choroideremia is a chronic X-linked retinal degeneration that was first described in 18726. It leads to progressive blindness due to deficiency of Rab-escort protein 1 (REP1). We designed an adeno-associated viral vector to express REP1 and assessed it in a gene therapy clinical trial by subretinal injection in 14 patients with choroideremia. The primary endpoint was vision change in treated eyes 2 years after surgery compared to unoperated fellow eyes. Despite complications in two patients, visual acuity improved in the 14 treated eyes over controls (median 4.5 letter gain, versus 1.5 letter loss, P = 0.04), with 6 treated eyes gaining more than one line of vision (>5 letters). The results suggest that retinal gene therapy can sustain and improve visual acuity in a cohort of predominantly late-stage choroideremia patients in whom rapid visual acuity loss would ordinarily be predicted.
Asunto(s)
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Degeneración Retiniana / Terapia Genética / Agudeza Visual / Coroideremia / Proteínas Adaptadoras Transductoras de Señales Tipo de estudio: Clinical_trials Límite: Adult / Aged / Humans / Male / Middle aged Idioma: En Revista: Nat Med Asunto de la revista: BIOLOGIA MOLECULAR / MEDICINA Año: 2018 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Degeneración Retiniana / Terapia Genética / Agudeza Visual / Coroideremia / Proteínas Adaptadoras Transductoras de Señales Tipo de estudio: Clinical_trials Límite: Adult / Aged / Humans / Male / Middle aged Idioma: En Revista: Nat Med Asunto de la revista: BIOLOGIA MOLECULAR / MEDICINA Año: 2018 Tipo del documento: Article Pais de publicación: Estados Unidos