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Achromatopsia is an autosomal recessively inherited congenital defect characterized by a lack of cone photoreceptor function, leading to severely impaired vision. In this clinical study, achromatopsia patients were treated with a single subretinal injection of rAAV.hCNGA3 to restore cone function. The focus of this trial was on the safety of the treatment. After surgery, patients were monitored in eight extensive visits during the first year, followed by a 4-year follow-up period with annual visits. For essential complementation of the standard ophthalmological and systemic examinations, disease-specific methods were developed to assess the safety, efficacy, and patient-reported outcomes in this trial.

Original publication

DOI

10.1089/humc.2018.088

Type

Journal article

Journal

Hum Gene Ther Clin Dev

Publication Date

09/2018

Volume

29

Pages

121 - 131

Keywords

AAV8, CNGA3, eye, gene therapy, subretinal injection, Adult, Aged, Color Vision Defects, Cyclic Nucleotide-Gated Cation Channels, Dependovirus, Dose-Response Relationship, Drug, Female, Genetic Therapy, Genetic Vectors, Humans, Injections, Male, Middle Aged, Mutation, Retinal Cone Photoreceptor Cells