title: Gene therapy for achromatopsia.
abstract: The present review summarizes the current status of achromatopsia (ACHM) gene therapy-related research activities and provides an outlook for their clinical application. ACHM is an inherited eye disease characterized by a congenital absence of cone photoreceptor function. As a consequence, ACHM is associated with strongly impaired daylight vision, photophobia, nystagmus and a lack of color discrimination. Currently, six genes have been linked to ACHM. Up to 80% of the patients carry mutations in the genes CNGA3 and CNGB3 encoding the two subunits of the cone cyclic nucleotide-gated channel. Various animal models of the disease have been established and their characterization has helped to increase our understanding of the pathophysiology associated with ACHM. With the advent of adeno-associated virus vectors as valuable gene delivery tools for retinal photoreceptors, a number of promising gene supplementation therapy programs have been initiated. In recent years, huge progress has been made towards bringing a curative treatment for ACHM into clinics. The first clinical trials are ongoing or will be launched soon and are expected to contribute important data on the safety and efficacy of ACHM gene supplementation therapy.
authors.affiliation: Center for Integrated Protein Science Munich CiPSM and Department of Pharmacy - Center for Drug Research, Ludwig-Maximilians-Universität München, Munich, Germany.
authors.forename: Stylianos
authors.initials: S
authors.lastname: Michalakis
authors.affiliation: Center for Integrated Protein Science Munich CiPSM and Department of Pharmacy - Center for Drug Research, Ludwig-Maximilians-Universität München, Munich, Germany.
authors.forename: Christian
authors.initials: C
authors.lastname: Schön
authors.affiliation: Center for Integrated Protein Science Munich CiPSM and Department of Pharmacy - Center for Drug Research, Ludwig-Maximilians-Universität München, Munich, Germany.
authors.forename: Elvir
authors.initials: E
authors.lastname: Becirovic
authors.affiliation: Center for Integrated Protein Science Munich CiPSM and Department of Pharmacy - Center for Drug Research, Ludwig-Maximilians-Universität München, Munich, Germany.
authors.forename: Martin
authors.initials: M
authors.lastname: Biel
mesh_terms: D000818:Animals; D002986:Clinical Trials as Topic; D003117:Color Vision Defects / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy*; D054815:Cyclic Nucleotide-Gated Cation Channels / Q000235:genetics; D000229:Dependovirus / Q000235:genetics; D004195:Disease Models, Animal; D004353:Drug Evaluation, Preclinical; D020022:Genetic Predisposition to Disease; D015316:Genetic Therapy / Q000379:methods; D005822:Genetic Vectors / Q000235:genetics; D006801:Humans; D009154:Mutation; D019076:Transgenes; D016896:Treatment Outcome
chemical_list: D054815:Cyclic Nucleotide-Gated Cation Channels
keywords: adeno-associated virus (AAV); animal model; clinical research; gene therapy; neuroscience; viral vector