Chad Huling has seen the impacts of degenerative eye diseases first hand.
Huling’s mother has been steadily losing her vision due to a degenerative eye disease she was born with, the 24-year-old Florida State University student said. But a new gene therapy developed by a UF researcher could improve eyesight for some with a rare disease.
William Hauswirth, a UF ophthalmology professor, had been working on the research for about 20 years. On Dec. 19, the U.S. Food and Drug Administration approved it to become available to patients.
The therapy is for patients with a rare genetic defect called Leber congenital amaurosis type 2, or LCA 2, Hauswirth said. People are born missing a certain gene, which causes blurred vision in the retina and becomes increasingly worse over time.
The disease only affects about 1,000 people in the U.S., Hauswirth said.
Hauswirth’s gene therapy will deliver the missing gene to the patient, so they can recover some of their eyesight, he said. He invented the adeno-associated virus vector, which delivers the missing gene through a virus that is inserted by syringe.
In addition to treating this specific disease, this type of therapy could be the first step to curing other genetic forms of eye disease, such as Huling’s disease — Lebers hereditary optic neuropathy, Hauswirth said.
During trials, the therapy restored some of the patients’ eyesight, he said. But because it is a degenerative disease, results were not permanent.
“(Trial patients) had really substantial gain in vision for about two or three years, and then it leveled out and started going down,” Hauswirth said.
Hauswirth said the treatment, branded as “Luxturna,” was approved by the FDA and brought to the market by Spark Therapeutics Inc. Luxturna uses the gene delivery process developed by Hauswirth at UF.
Hauswirth said he hopes his treatment can be used to treat others with vision gene deformities. Hurling said he’s optimistic for future treatment.
“It’s reassuring to know that there are people out there working hard to help people like my mom,” Huling said. “The fact that they are actually making progress is incredible.”
