Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial.

Journal article

BACKGROUND: Choroideremia is an X-linked recessive disease that leads to blindness due to mutations in the CHM gene, which encodes the Rab escort protein 1 (REP1). We assessed the effects of retinal gene therapy with an adeno-associated viral (AAV) vector encoding REP1 (AAV.REP1) in patients with this disease. METHODS: In a multicentre clinical trial, six male patients (aged 35-63 years) with choroideremia were administered AAV.REP1 (0·6-1·0×10(10) genome particles, subfoveal injection). Visu...

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Authors: Maclaren, R; Groppe, M; Barnard, A; Cottriall, C; Tolmachova, T

• Publication status: Published
• Journal: Lancet
• Volume: 383
• Issue: 9923
• Pages: 1129-1137
• Publication date: 2014-03-01
• DOI: 10.1016/s0140-6736(13)62117-0
• EISSN: 1474-547X
• ISSN: 0140-6736
• Language: English
• Keywords: Middle Aged; Injections, Intraocular; Transgenes; Adult; Humans; Genetic Therapy; Genetic Vectors; Aged; Adenoviridae; Fluorescence; Retinal Detachment; Gene Transfer Techniques; Male; Choroideremia; Adaptor Proteins, Signal Transducing; Visual Acuity