Clinical Trials

Retina Foundation is Major Center for Next Phase of Gene Therapy for X-Linked Retinitis Pigmentosa: SKYLINE

Inherited Eye Diseases September 20, 2021

X-linked retinitis pigmentosa (XLRP) is an inherited eye disease that causes gradual vision loss in boys and young men. The disease begins with night blindness and a progressive loss of peripheral vision. This disease eventually leads to central vision loss and results in a person becoming legally blind in their 40s.

The Retina Foundation has been designated as a Center of Excellence for Gene Therapy and recently concluded a promising Phase 1/2 clinical trial for gene therapy for 28 patients with XLRP, sponsored by AGTC. Gene therapy is the process of replacing a disease-causing gene, which is damaged or mutated, with a healthy gene. The purpose of this modification of a person’s genes is to treat or cure disease. “Although every experimental drug carries some risks, the study results here support a positive safety profile for the treatment,” stated Dr. David Birch, Director of the Rose-Silverthorne Retinal Degenerations Laboratory at the Retina Foundation. “The study data indicate that those treated centrally may benefit from the treatment,” Dr. Birch added.

Each of the 28 participants across six dose groups received a single dose of AGTC-501, the study drug, in one eye. The Retina Foundation, along with other participating trial sites, collected data in order to review and determine the safety and potential effectiveness of AGTC-501. The AGTC website summarizes the combined results: “The 6 and 12 month post treatment data results of the trial suggested potential benefit in improvement in several vision tests in some participants who received either a low or high dose of AGTC-501. Data from all 28 patients across six dose groups continue to demonstrate a favorable safety profile with no dose-limiting inflammatory responses observed.”

Following the success of the initial Phase 1/2 trial is the new Phase 2 clinical trial called SKYLINE, which will further evaluate the safety and efficacy of the AGTC-501 study drug. The Retina Foundation is excited for the opportunity to be a major center for SKYLINE. Assisting us as co-investigator for SKYLINE is Dr. Rajiv Anand, a retina surgeon with Texas Retina Associates, one of the Retina Foundation’s longest standing research partners. Dr. Anand will perform the surgeries to inject one of two doses of the study drug, a high dose or low dose, into one eye of each participant.

The purpose of the SKYLINE clinical trial is to demonstrate whether the investigational study drug will help a person with XLRP see better or maintain their current vision. The Retina Foundation is actively enrolling male participants with XLRP into this new study. If you are a patient or caregiver of a patient who might be interested, please review the key eligibility criteria for SKYLINE outlined below before contacting 1-855-467-2364.

-Is a male with a diagnosis of X-Linked Retinitis Pigmentosa confirmed by a qualified healthcare professional

-Has a mutation in the RPGR gene confirmed by genetic testing

-Is between the age of 8 and 50 years old at the time of screening

-Has a best corrected visual acuity no better than 20/32 and no worse than 20/200 on an eye chart in both eyes

SKYLINE will include twelve male participants. While the Retina Foundation is a major center, this study is also being conducted at other sites in the United States. For more information about this trial as well as a list of the trial sites, please visit


Please consider donating to the Retina Foundation to support our mission to prevent vision loss and restore sight through innovative research and treatment.

Retina Foundation is Major Center for Next Phase of Gene Therapy for X-Linked Retinitis Pigmentosa: SKYLINE

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