X-linked Retinitis Pigmentosa (RP), the most common form of recessive RP, is caused by the mutation of RP GTPase regulator gene (RPGR). Recently, an early phase clinical trial (XIRIUS) reported the safety profile and visual improvement in male patients treated with gene therapy. Adeno-associated viral vector, which encoded human-RPGR, was delivered into patients’ subretinal space via injection. Visual field improvements were detected in treated eyes after 1 month and sustained up to the last follow-up (6 months). Also, a dose-dependent effect on visual improvement was found. As regards with safety profile, no serious adverse events were observed during the first 6 months. Although the data supports the utilisation of gene therapy, further clinical trials should be conducted to verify the effectiveness and safety.

Keywords:

Clinical trial, Ophthalmology, Gene therapy, Genetic disorder

Reference:

Cehajic-Kapetanovic, J., et al. Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR. Nat Med (2020). https://doi.org/10.1038/s41591-020-0763-1