There’s no shortage of stories: A toddler truly seeing animals at the zoo for the first time. A young girl noticing her shadow on the sidewalk. A 7-year-old who can now read the blackboard at school and ride her bike through the neighborhood at dusk.
For kids with a rare genetic eye disorder called Leber congenital amaurosis (LCA), these moments are monumental. Children with LCA experience a rapid decline in their vision as they grow, starting with poor vision in dim light and night blindness. Ultimately, patients lose all of their sight by middle age.
But since 2018, Dr. Nagiel and his team at the Vision Center of Children’s Hospital Los Angeles have been treating these patients with a pioneering gene therapy called Luxturna. A national leader in pediatric gene therapy, CHLA was the first center on the West Coast to administer this treatment after it was approved by the Food and Drug Administration in 2017.
Recently, CHLA celebrated its 100th retinal gene therapy procedure, which includes more Luxturna procedures than anywhere else in the country. Dr. Nagiel shares how this therapy works, why early treatment is critical, and how he uses both his hands—and feet—to deliver it.
What led you to a career treating pediatric retinal eye diseases?
It started during my early research career at Rockefeller University. I was investigating a fundamental question: How do 100 billion connections form in our brain to empower humans to do everything we do?
That led me to an interest in ophthalmology, especially retina research, because it’s this piece of the brain we can see with the naked eye. So many different cell types have to connect properly to inform all the beautiful imagery we see daily. I also knew that I loved working with the pediatric population. Ultimately, my research led me to CHLA where Dr. Thomas Lee was an established leader in pediatric retina.
How does this treatment improve vision for kids with retinal diseases?
For this form of retinal disease, the patient’s vision will start declining from a very early age, and by their mid-40s, they will be almost completely blind.
With Luxturna gene therapy, not only do patients experience visual improvements, but the therapy may actually stave off retinal degeneration and retinal cell loss.
I often tell patients and their families that the retina is kind of like a factory. The patient’s ‘factory’ is at a total standstill because one tiny tool is missing—it just can't produce what it needs to keep the retina healthy.
What we're doing with Luxturna is restoring that tool so that the factory can start functioning again. If we wait too long to treat someone, though, the factory might shut down completely.
That’s why our emphasis here has always been on treating kids as early as possible so we can give that tool back to these ‘factories’ and help children maintain their vision over the course of their lifetime.
How does Luxturna gene therapy work?
Gene therapies represent a method of permanently altering the course of disease—and the person’s life—through a single procedure.
Luxturna packages a healthy copy of a specific gene—the gene that is mutated and not functional in these patients—inside a specially designed carrier called a viral vector. This vector is a harmless virus that has one job only: to deliver the normal copy of the gene into the patient’s cells, so that those cells can now form healthy proteins and thus function properly.
One important note is that treatment is a one-time occurrence. Once that gene is functional within the cells and healthy proteins can be made, the patient’s retinal cells start functioning correctly, and hopefully this lasts for the life of the patient.
Gene therapies represent a method of permanently altering the course of disease—and the person’s life—through a single procedure.
Who is eligible for Luxturna?
Patients must be older than 12 months and show mutations in both copies of a gene called RPE65. If a patient has one healthy copy of this gene, they don’t have the disease.
We lean on CHLA’s Center for Personalized Medicine for this part of the screening. CHLA is one of the only pediatric medical centers with in-house genomic and molecular pathology support. This is critical because more than 300 genes can cause these retinal degenerations. We need to be sure beyond a doubt that patients have this particular form of LCA before we treat them.
About Children’s Hospital Los Angeles:
Founded in 1901, Children’s Hospital Los Angeles is at the forefront of pediatric medicine and is the largest provider of hospital care for children in California. Children’s Hospital is home to renowned experts who work together across disciplines to deliver inclusive and compassionate care, and drive advances that set pediatric standards across the nation and around the globe. Children’s Hospital Los Angeles provides a level of care to its diverse population of children that is among the best in the world. The hospital is consistently ranked in the top 10 in the nation on U.S. News & World Report’s Honor Roll of Best Children’s Hospitals. CHLA is the top-ranked children’s hospital in California and the Pacific U.S. region for 2024-25. Children’s Hospital Los Angeles embraces its mission to create hope and build healthier futures. Children’s Hospital Los Angeles is among the top 10 children’s hospitals for National Institutes of Health funding. The Saban Research Institute of Children's Hospital Los Angeles supports the full continuum of research, allowing physicians and scientists to translate discoveries into treatments and bring answers to families faster. The pediatric academic medical center also is home to one of the largest training programs for pediatricians in the United States. And the hospital’s commitment to building strong communities is evident in CHLA’s efforts to fight food insecurity, enhance health education and literacy, and introduce more people to careers in health care
