Inherited Retinal Disease

Gene therapy appears safe, effective in X-linked retinitis pigmentosa

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Primary results from the Phase 1/2 study evaluating the investigational gene therapy botaretigene sparoparvovec in patients with the inherited retinal disease X-linked retinitis pigmentosa (XLRP) associated with the retinitis pigmentosa GTPase regulator (RPGR) gene were presented at the AAO 2022 Annual meeting.

Treatment with the investigational gene therapy was found to be safe, and demonstrated encouraging improvements in retinal sensitivity, visual function, and functional vision in patients with XLRP.

At 6 months post-treatment in the study’s dose escalation and expansion phases, patients treated with botaretigene sparoparvovec had significant sustained or increased functional improvement in retinal sensitivity, visual function, and functional vision compared to patients in the randomized untreated control arm.

“Individuals living with XLRP often begin to experience symptoms in childhood, and as retinal degeneration progresses toward blindness, they can start to feel a sense of hopelessness as there are no treatments to turn to,” said Michel Michaelides, BSc, MB, BS, MD (Res), FRCOphth, FACS, Consultant Ophthalmologist, Moorfields Eye Hospital, Professor of Ophthalmology, University College London and lead investigator in a press release. “These results from the MGT009 study are promising, as they represent the potential for botaretigene sparoparvovec to preserve vision and ultimately restore hope for these patients.”

Botaretigene sparoparvovec has been granted Fast Track and Orphan Drug designations by the U.S. Food and Drug Administration and PRIority MEdicines (PRIME), Advanced Therapy Medicinal Product (ATMP) and Orphan designations by the European Medicines Agency (EMA).

Michaelides M, et al. Ph1/2 AAV5-RPGR (Botaretigene Sparoparvovec) Gene Therapy Trial in RPGR-associated X-linked Retinitis Pigmentosa (XLRP). Presented at: AAO 2022.