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    Gene therapy for choroideremia may be on horizon


    These mutations result in a severe loss or absence of the endogenous protein, which means that the protein produced by the therapeutic gene does not have to compete with an existing large pool of defective protein.

    The therapy involves an injection of adeno-associated viral (AAV) vector that delivers a wild-type copy of the Rab escort protein 1 (REP-1) gene into the cells of the eye to replace the faulty gene. AAV2 was chosen as the specific vector for various reasons, most importantly of which being that it had already been shown to be safe and effective for use in the retina, in ocular gene therapy trials for Leber’s congenital amaurosis type 2.

    Previous trial results

    The results of the first clinical trial of AAV2-REP1 surpassed all expectations.

    The trial was designed to test whether the gene therapy could be injected into the retina without causing damage but, as reported in The Lancet in 2014, the first six patients all showed subjective improvement in their vision in dim light and two of the six were able to read more lines on the Snellen chart. One patient has been followed now for 2 years and his initial vision improvements have been maintained.

    The effects of treatment were real and life-changing: one trial subject commented that he had seen the stars for the first time in many years, while another described the change as being “as though someone has switched on the floodlights.”

    Results are awaited from a further three patients who were enrolled to receive a higher dose of AAV2-REP1.

    Next: What comes next

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