A Multiple-Site, Phase 1/2, Safety and Efficacy Trial of a Recombinant Adeno-associated Virus Vector Expressing Retinoschisin (rAAV2tYF-CB-hRS1) in Patients With X-linked Retinoschisis
This study will evaluate the safety and efficacy of a recombinant adeno-associated virus vector expressing retinoschisin (rAAV2tYF-CB-hRS1) in patients with X-linked retinoschisis. Up to 27 participants will be enrolled and 3 dose levels will be evaluated in a dose escalation format.
X-linked retinoschisis (XLRS), also known as X-linked juvenile retinoschisis, is an early onset retinal degenerative disease and is the leading cause of juvenile macular degeneration in males. Characteristic features include mild to severe loss in central vision, radial streaks arising from foveal schisis, splitting of inner retinal layers in the peripheral retina, and a negative electroretinogram (ERG) arising from a marked reduction in b-wave amplitude. Best corrected visual acuity is reduced to 20/100 or worse in most patients. Disease progression and severity is highly variable even within families. During the course of the disease, secondary complications including retinal detachment and vitreous hemorrhage can occur, leading to a poor outcome. Female carriers are asymptomatic although detailed clinical examination can reveal minor retinal abnormalities.