California Hospital Reports ‘Life-Changing Results’ Using Luxturna; 14 Patients Treated

Children’s Hospital Los Angeles has performed successful gene replacement surgery using Spark’s Luxturna in 14 patients since March 2018.

Nine patients were children as young as 3, and five were adults, the pediatric hospital reported July 12.

Luxturna, which gained US approval in December 2017, replaces a defective gene called RPE65 in the retina with a healthy copy. RPE65 produces a protein that makes light receptors work in the eye.

The associated retinal degeneration appears early in childhood and gets worse over time, leading to total blindness. Improvement is largely contingent on how far the condition has advanced, the hospital said.

Children’s Hospital Los Angeles is one of 10 hospitals now approved to do the procedure. The facility has two full-time, dedicated pediatric retinal surgeons on site: Aaron Nagiel, MD, PhD, and Thomas C. Lee, MD.

Nagiel said surgeons have found Luxturna to be life-changing for children under 10.

“For adults, the clock has been ticking, and cells have been dying over time,” Nagiel said, adding that the top priority for adults is saving what vision they have, but the treatment also is allowing them to see and experience things they haven’t done before.

Monroe Le, 6, of California, is one of the pediatric patients. Misdiagnosed early in life as autistic, she eventually bumped into enough walls and behaved outside the norm of autistic children to the point that a second pediatrician sent her to an ophthalmologist. Testing showed she had Leber’s congenital amaurosis due to a mutation in the RPE65 gene. She had surgery at age 5 and has received prominent media coverage in the aftermath.

One of her biggest thrills is being able to see in the dark. She also can see details on the attractions at Disneyland that she didn’t know existed.

Nagiel said he receives running digital updates from families on new sights being experienced every day: clouds, fireworks, and birds flying overhead.

The stories are more than gratifying, he said.