Recently, a worldwide congress on vision research, ARVO 2018, was held on the 29th April-2nd May in Honolulu. Several sessions were dedicated to present the latest reports on retinal dystrophy gene therapy clinical trials. Gene therapy is a type of precision medicine that aims to treat the genetic defect behind a particular disorder, thus gene therapy is developed for patients bearing specific gene mutations.
Long-standing improvement was reported for patients treated in USA and Europe with Luxturna, the commercial gene therapy for patients bearing mutations in the RPE65 gene, causative of Leber congenital amaurosis. The update on the choroideremia phase 3 clinical trials targeting the REP1 gene in several institutions of Europe, USA, Southamerica and Canada also showed moderate successful results. Other gene therapy clinical trials still in initial phases (phases 1/2) and with few treated patients seem very promising, such as the gene therapy addressed to MYO7A, responsible for Usher’s syndrome, or to RPGR and PDE6, which cause Retinitis Pigmentosa.
Last but not least, new gene therapies are being tested in cell and animal models, some of them exploring gene editing by CRISPR/Cas9 and aiming to gain FDA approval to carry clinical trials in humans later this year. Indeed, patients will require a precise genetic diagnosis to opt to these emerging cell and gene therapies for visual hereditary disorders.