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Patient testing is underway for a new therapy for age-related macular degeneration (AMD) developed by the John A. Moran Eye Center’s

The treatment—a gene therapy delivered to the back of the eye—is the first of several precision medicine drugs developed by the SCTM to enter the FDA pipeline. It is tailored for individuals with the most prevalent form of AMD, caused by genetic mutations in the Complement Factor H gene (CFH) on Chromosome 1. The gene therapy delivers a modified version of CFH to the eye.

A Phase 1 clinical trial is assessing the drug’s safety in AMD patients who fit an appropriate genetic profile and have already lost their vision. A Texas woman became the first to receive the drug at a private practice in December 2022.

Physicians will give the therapy to nine patients during the Phase 1 trial. Once confident that the drug is safe, researchers will use larger groups of sighted patients in a Phase 2 trial to evaluate whether the treatment can slow or halt disease progression.

For SCTM Executive Director Gregory S. Hageman, PhD, this moment has been three decades in the making. Driven by a curious nature and inspired by a relative losing her sight to AMD, the then-marine biologist dove into what would become a lifelong passion for understanding—and treating—the disease.

His success could alter the course of history. While AMD is a leading cause of blindness for 1 in 5 Americans over age 70, there is no cure and few available treatments.

“When I decided to work on AMD, we knew practically nothing about its biology or clinical course, and many individuals told me I was wasting my time,” says Hageman. “Now I look back and think, ‘Wow, we’re actually going to give treatment a go.’ I have great confidence in the science, the unique genetic targeting behind our approach, and the SCTM’s extremely talented staff. I really believe this is going to work.”

Anatomy of a Gene Therapy

Gene therapy is a personalized approach that could free patients from the burdens of ongoing treatment. But it was more of a dream than reality before technological advances allowed scientists to deliver genetic material into the cells of patients using harmless modified viruses.

To develop a gene therapy, SCTM researchers first needed a more complete understanding of the biology of AMD. Hageman’s methodical research over the past decades, which included conducting one of the largest ocular genetic studies, gave the world a new understanding of the role of genetics and biology in the development of AMD.

AMD-associated genes on chromosomes 1 and 10 account for approximately 90% of a person’s risk for developing AMD. A cluster of six genes on chromosome 1, which play critical roles in the immune system, directs one form; a pair of genes on chromosome 10, associated with maintaining ocular health as we age, causes a second. 

Importantly, Hageman’s team also discovered genetic variants on chromosome 1 that offer strong protection against developing AMD.

“We carry two copies of every gene, so if a person carries two copies of chromosome 1-associated protective genes, they’re highly protected and not likely to develop AMD,” explains Hageman. “If an individual carries two risk copies, they’re highly likely to develop AMD. Interestingly, if someone carries one protective gene and one risk gene, the risk of developing AMD is greatly diminished.”

Commercialized in conjunction with one of the SCTM's corporate partners, the lead product was designed to provide protection for individuals with one or more risk copies of CFH on chromosome 1.