First Patient in Phase 1/2 Clinical Study of Gene Therapy is Treated for X-Linked RP

April 19, 2018

The first human patient has been administered an AAV-based gene therapy treatment for x-linked retinitis pigmentosa (XLRP). This is an exciting clinical milestone for one of the first potential treatments for this disease. The patient is being followed by Dr. David Birch of the Retina Foundation of the Southwest to evaluate the safety and efficacy of the treatment.

XLRP is an inherited condition that causes progressive vision loss in boys and young men. Characteristics of the disease include night blindness in early childhood and progressive constriction of the visual field. In general, XLRP patients experience a gradual decline in visual acuity over the disease course, which results in legal blindness around the 4th decade of life. Preclinical data in a canine model of XLRP caused by mutations in the RPGR gene indicate that treatment with an AAV-based gene therapy product slowed the loss of visual function.

My Retina Tracker® is an online, confidential patient registry for people affected by inherited retinal diseases. The registry collects data with the intention of using the aggregated knowledge to advance research and to help accelerate clinical trial enrollment by providing a source of information about people impacted by retinal diseases. The registry is free for people affected by inherited orphan retinal diseases, and is designed with state-of-the-art technology to protect user privacy. To learn more about My Retina Tracker, visit or contact the registry’s coordinator at