Aaron Nagiel, MD, PhD, a leading pediatric retinal specialist at Children’s Hospital Los Angeles (CHLA), often hears stories from parents long after their child’s retinal gene therapy treatment. These heartfelt updates highlight significant improvements, such as a toddler seeing animals at the zoo for the first time or a young girl noticing her shadow on the sidewalk. These transformations are especially remarkable for children with Leber congenital amaurosis (LCA), a rare genetic disorder that causes progressive vision loss, eventually leading to blindness by middle age.
Since 2018, Dr. Nagiel and his team at CHLA have been pioneering the use of Luxturna, a gene therapy approved by the FDA for LCA. CHLA, a national leader in pediatric gene therapy, was the first West Coast center to offer this treatment. Recently, CHLA celebrated performing its 100th retinal gene therapy procedure, the highest number of Luxturna treatments in the U.S.
Dr. Nagiel, who initially studied brain development at Rockefeller University, was drawn to ophthalmology because the retina offers a view of the brain’s intricate structure. His research and passion for pediatric care led him to CHLA, where he works under Dr. Thomas Lee, a leader in pediatric retina care.
Luxturna offers hope by halting the rapid progression of LCA. The therapy works by replacing a missing gene in the retina, allowing the cells to produce proteins essential for vision. By restoring this gene, Luxturna can preserve vision and prevent further degeneration, but early intervention is crucial. If the disease is allowed to progress too far, retinal cells may become too damaged for treatment to be effective.
The Luxturna procedure involves a single injection under the retina, delivering a healthy gene via a viral vector. The procedure requires delicate handling, using both hands and feet to ensure precise delivery. The therapy is typically administered to children older than 12 months who have mutations in both copies of the RPE65 gene, which is critical for proper retinal function.
Patients often see improvements within days to weeks, with many noticing things they could never see before. One child could see fish in a tank for the first time, while another noticed a bird flying for the first time. These patients, once night-blind, can now participate in everyday activities like reading in low light or riding bikes at dusk.
Looking ahead, CHLA is focused on expanding its retinal gene therapy program. In the next decade, Dr. Nagiel hopes that all children with retinal diseases will be diagnosed and treated early, ensuring they experience lifelong vision improvements.
Children’s Hospital Los Angeles remains a leader in pediatric care, continuously advancing treatments and innovations in the field of pediatric medicine.
