Saturday, March 30, 2013

People in the NorthWest with X-linked retinoschisis

XLRS Natural History Study Beginning in Portland, Oregon

March 29, 2013 – Oregon Health & Science University (OHSU) is launching a three-year natural history study for people with X-linked retinoschisis (XLRS). Funded by the Foundation Fighting Blindness, the investigation’s primary goal is to identify outcome measures — such as changes in vision or retinal structure — that could be useful in evaluating the effectiveness of potential therapies in clinical trials. The study will also help determine the types of XLRS patients most suitable for future therapeutic studies.

Knowledge gained from the XLRS natural history study will aid in the design of an XLRS gene therapy clinical trial slated to begin in late 2014 or early 2015. The trial will be a collaboration between Applied Genetic Technologies Corporation, OHSU and the Foundation.

X-linked retinoschisis occurs almost exclusively in males. Participants in the natural history study must be of that gender. Otherwise, to qualify, they must:
  • have a clinical diagnosis of XLRS
  • have a disease-causing mutation in the gene RS1
  • be 7 years of age or older
  • be able to provide consent/assent (understand study procedures and risks)
Participants will need to make yearly visits to the Casey Eye Institute in Portland, Oregon. Some travel may be reimbursed.

If study participants are not already using carbonic anhydrase inhibitors (CAI), they will be offered this standard-of-care treatment during the study. If participants start CAI treatment during the study, they will need to travel to OHSU for some additional visits. CAIs are thought to reduce retinal edema (swelling) and other symptoms associated with XLRS.

For more information about the XLRS natural history study, contact the study coordinator at (503) 494-2363 or email at


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