Correction: AAV-Mediated Gene Therapy for Choroideremia: Preclinical Studies in Personalized Models.
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ABSTRACT:
SUBMITTER: Vasireddy V
PROVIDER: S-EPMC4474960 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
Publications
Correction: AAV-Mediated Gene Therapy for Choroideremia: Preclinical Studies in Personalized Models.
Vasireddy Vidyullatha V Mills Jason A JA Gaddameedi Rajashekhar R Basner-Tschakarjan Etiena E Kohnke Monika M Black Aaron D AD Alexandrov Krill K Zhou Shangzhen S Maguire Albert M AM Chung Daniel C DC Mac Helen H Sullivan Lisa L Gadue Paul P Bennicelli Jeannette L JL French Deborah L DL Bennett Jean J
PloS one 20150619 6
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Project description:Choroideremia is an outer retinal degeneration with a characteristic clinical appearance that was first described in the nineteenth century. The disorder begins with reduction of night vision and gradually progresses to blindness by middle age. The appearance of the fundus in sufferers is recognizable by the characteristic pale color caused by the loss of the outer retina, retinal-pigmented epithelium, and choroidal vessels, leading to exposure of the underlying sclera. Choroideremia shows X-linked recessive inheritance and the choroideremia gene (CHM) was one of the first to be identified by positional cloning in 1990. Subsequent identification and characterization of the CHM gene, which encodes Rab escort protein 1 (REP1), has led to better comprehension of the disease and enabled advances in genetic diagnosis. Despite several decades of work to understand the exact pathogenesis, no established treatments currently exist to stop or even slow the progression of retinal degeneration in choroideremia. Encouragingly, several specific molecular and clinical features make choroideremia an ideal candidate for treatment with gene therapy. This work describes the considerations and challenges in the development of a new clinical trial using adeno-associated virus (AAV) encoding the CHM gene.
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