AAV-Mediated Gene Therapy for Choroideremia: Preclinical Studies in Personalized Models

• Published in: PloS one Vol. 8; no. 5; p. e61396
• Main Authors: Vasireddy, Vidyullatha, Mills, Jason A., Gaddameedi, Rajashekhar, Basner-Tschakarjan, Etiena, Kohnke, Monika, Black, Aaron D., Alexandrov, Krill, Zhou, Shangzhen, Maguire, Albert M., Chung, Daniel C., Mac, Helen, Sullivan, Lisa, Gadue, Paul, Bennicelli, Jeannette L., French, Deborah L., Bennett, Jean
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 07.05.2013; Public Library of Science (PLoS)
• Subjects: Adaptor Proteins, Signal Transducing - genetics; Animal models; Animals; Augmentation; Biology; Blindness; Cell Line; Choroideremia - genetics; Choroideremia - therapy; Degeneration; Dependovirus - genetics; Enzymatic activity; Female; Gene therapy; Genes; Genetic Therapy - adverse effects; Genetic Therapy - methods; Humans; Lymphoblasts; Male; Medicine; Mice; Mutation; Nyctalopia; Patients; Peripheral vision; Physicians; Plasmids - genetics; Pluripotency; Precision Medicine; Protein transport; Protein Transport - genetics; rab GTP-Binding Proteins - metabolism; Recovery of function; Retina; Retinal degeneration; Safety; Stem cells; Toxicity; Viruses; United States > US; Pennsylvania

Choroideremia (CHM) is an X- linked retinal degeneration that is symptomatic in the 1(st) or 2(nd) decade of life causing nyctalopia and loss of peripheral vision. The disease progresses through mid-life, when most patients become blind. CHM is a favorable target for gene augmentation therapy, as th...