AGTC Recruiting Patients for Study of X-Linked Retinoschisis Gene Therapy

September 21, 2015

The biotechnology company Applied Genetic Technologies Corporation (AGTC) is enrolling participants for its clinical trial of a gene therapy for X-linked retinoschisis (XLRS), a blinding condition causing splitting of the layers of the retina. The 27-participant, Phase I/II study is primarily focused on safety, though investigators will also evaluate changes in visual acuity, visual fields, retinal sensitivity and retinal structure.

The study will take place at four sites: Oregon Health & Science University (OHSU), Massachusetts Eye and Ear Infirmary, Retina Foundation of the Southwest and Kellogg Eye Center at the University of Michigan. Enrollment information is available at the clinical-trials website hosted by the National Institutes of Health.

The Foundation Fighting Blindness (FFB) funded laboratory studies at OHSU in preparation for AGTC’s XLRS gene-therapy clinical trial.

“We are delighted to see this promising therapy for a vision-robbing retinal condition move into a human study,” says Stephen Rose, Ph.D., chief research officer, FFB. “It’s exciting to see our support of critical lab research help AGTC launch the clinical trial and advance our mission of getting treatments out to the people who desperately need them.”

XLRS is caused by mutations in the gene RS1. It affects as many as 140,000 males worldwide. Females are carriers of the condition and rarely affected. XLRS is usually diagnosed in childhood, leading to progressive loss of central vision.

AGTC’s therapy involves delivery of healthy copies of RS1 to the inner retina. A human-engineered adeno-associated virus (AAV) is used to deliver the therapeutic genetic cargo into retinal cells. The treatment is injected into the vitreous, a gel-like substance in the middle of the eye. In lab studies, the XLRS gene therapy led to long-term improvement in retinal function and prevention of retinal cell degeneration. Investigators believe a single treatment may be effective for several years in humans.

AGTC is also working toward gene therapies for the retinal diseases X-linked retinitis pigmentosa (XLRP) and achromatopsia (day blindness).

In August 2015, AGTC announced a collaboration and license agreement with Biogen, a leading international biotechnology company. Under the terms of the agreements, Biogen will make near-term payments, including an upfront payment of $124 million to AGTC. AGTC is eligible to receive upfront and milestone payments exceeding a total of $1 billion. Biogen will be granted a license to the XLRS and XLRP gene-therapy programs and the option to license discovery programs for three additional indications.

“Biogen’s major investment in AGTC and the retinal-disease space provides a tremendous boost to the advancement of vision-saving treatment and cures,” says William T. Schmidt, chief executive officer, FFB. “Furthermore, it’s incredibly exciting to see our projects attracting big dollars from biotechs. It significantly leverages our research investment, and most important, it accelerates the clinical-development process and greatly increases the chances that therapies will make it to the marketplace. ”

In March 2015, the National Eye Institute announced the launch of its 100-participant, Phase I/II XLRS gene-therapy clinical trial taking place in Bethesda, Maryland.