X-Linked Retinoshisis (RS1) Gene Therapy Trial

A Multiple-Site, Phase 1/2, Safety and Efficacy Trial of a Recombinant Adenoassociated Virus Vector Expressing Retinoschisin (rAAV2tYF-CB-hRS1) in Patients With X-linked Retinoschisis 

The purpose of this study is to learn about a new gene therapy that may help patients with X-Linked Retinoschisis (XLRS). This is the first study that aims to treat XLRS disease by gene therapy. The study investigators want to find out whether it is safe for use in humans. The gene therapy is given by a surgical injection into the vitreous (a thick, gel-like transparent substance that fills the center of the eye) of one eye. The eye with worse vision will receive the gene therapy. 

Eligibility criteria: 

  • Ages 6-17 years for Group 2A. Ages 6 years and older for Group 4 (Groups 1A, 1B, 2, and 3 have been fully enrolled). 
  • Must have a documented mutation in the RS1 gene, which is the gene linked to XLRS. 
  • Must have visual acuity no better than: 
    • 20/80 in the eye that will receive gene therapy for Group 1A 
    • 20/63 in the eye that will receive gene therapy for Group 1B, 2, 2A, and 3 
    • 20/50 in the eye that will receive gene therapy for Group 4 
  • Good general health 
This study will occur at the Casey Eye Institute in Portland, OR. Participation in this study will last for a total of 5 years. There are 12 required study visits in the first year of the study, thereafter once a year for the next 4 years. Each study visit will involve functional vision tests, dilated eye exams, and blood draws. 

Principal Investigator: 

Mark Pennesi, M.D., Ph.D.
Casey Eye Institute
3375 SW Terwilliger Blvd. Portland, OR 97239
eIRB#: 11448 IRB
Approved: 9/8/2017

View more information about this study on clinicaltrials.gov