New gene therapy technique

Shows promise in stem cell model of retinitis pigmentosa





Although the 2017 FDA approval of Spark Therapeutics’ gene therapy Luxturna was considered a triumph for people with inherited eye disease, the product can only be used in patients with mutations in the RPE65 gene. Now, scientists in the United Kingdom say they’ve developed a gene therapy technique that could help a larger population of patients with retinitis pigmentosa.


Scientists at Trinity College Dublin and University College London zeroed in on the RP2 gene, which can become mutated to cause a number of forms of retinitis pigmentosa. Functional copies of the RP2 gene delivered to “mini retinas” were able to pump out a vital protein called rhodopsin, the researchers reported (PDF) in the journal Stem Cell Reports.


The mini retinas used in the study were three-dimensional organoids made from induced pluripotent stem cells and stem cells taken from patients with RP2-mutated retinitis pigmentosa. The organoids started losing the rod photoreceptor cells needed for proper vision at day 150. The gene therapy prevented that degeneration, the researchers said.


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