X-Linked Retinoschisis

X-linked retinoschisis (XLRS) is an inherited early onset retinal degenerative disease caused by mutations in the RS1 gene. It is the leading cause of juvenile macular degeneration in males. XLRS is characterized by abnormal splitting of the layers of the retina, resulting in poor visual acuity in young boys, which can progress to legal blindness in adult men. The disease begins early in childhood and affected boys typically have best-corrected visual acuity of 20/60 to 20/120 at initial diagnosis. Severe complications such as retinal hemorrhage or retinal detachment occur in up to 40% of patients, especially in older individuals. There are currently no approved treatments for XLRS.

AGTC is developing a gene therapy product to treat XLRS. In animal models of XLRS, treatment with this product leads to long-term improvement in retinal function and prevention of retinal cell degeneration. Based on the strong preclinical proof-of-concept data, AGTC is currently conducting a clinical study to evaluate the safety and efficacy of an investigational gene therapy in patients with XLRS.

XLRS Clinical Trial

AGTC is currently conducting a clinical study to evaluate the safety and efficacy of an investigational gene therapy in patients with XLRS.

For more information, and to see whether you or someone you know qualifies to join the study, please click here to view the study page on ClinicalTrials.gov. 

If you are aware of a patient with XLRS, or if you have any questions about AGTC’s clinical study, please contact advocacy@agtc.com

If eligible to join the study and choose to participate, all study-related treatment costs and medical testing will be provided at no charge. Compensation for your time and travel expenses may also be provided.

Related Publications and Presentations

Structure/Psychophysical Relationships in X-Linked Retinoschisis

Safety and Biodistribution Study of rAAV2tYF-CB-hRS1 in RS1-deficient Mice 

Safety and Biodistribution Study of rAAV2tYF-CB-hRS1 in Nonhuman Primates 

Ocular Tolerability of rAAV2tYF-CB-hRS1 Vector Following Intravitreal Administration to Cynomolgus Monkeys  

X-linked juvenile retinoschisis: Clinical diagnosis, genetic analysis, and molecular mechanisms. 

Prolonged recovery of retinal structure/function after gene therapy in an Rs1h-deficient mouse model of x-linked juvenile retinoschisis. 

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