FDA Panel Mulls Gene Therapy for Kids With Rare Eye Disease

From Drugs.com - October 12, 2017

FDA Panel Mulls Gene Therapy for Kids With Rare Eye Disease

THURSDAY, Oct. 12, 2017 -- A U.S. Food and Drug Administration advisory panel was poised on Thursday to recommend approval for a gene therapy that could grant the gift of sight to young people with a rare type of inherited vision loss.

Replacing a nonworking gene with a new one is opening a new world for children and teens with the inherited retinal disease called Leber congenital amaurosis.

"This is a gene therapy that can restore some vision to people who have very limited vision or no vision due to the mutation in the RPE65 gene, and as such, it's a great breakthrough," said Stephen Rose, chief research officer at the Foundation Fighting Blindness.

For those who have already received the therapy, the treatment has been life-changing.

Eleven-year-old Cole Carper got the treatment when he was 8, according to the Associated Press. Afterwards, "I looked up and said, 'What are those light things?' And my mom said, 'Those are stars,'" he said.

His 13-year-old sister, Caroline, was treated when she was 10. "I saw snow falling and rain falling. I was completely surprised," she told the wire service. "I thought of water on the ground or snow on the ground. I never thought of it falling."

If approved by the FDA advisory panel, the treatment would be on its way to becoming the first gene therapy approved for an inherited disease, said Rose. His foundation helped fund the research that led to the treatment. The FDA typically follows the advice of its expert panels.

Only one other gene therapy has so far met FDA approval -- a cancer treatment that the agency sanctioned in August.

This type of vision loss is rare and affects about 1,000 people in the United States, Rose said. "But for these individuals who are essentially blind, it's a huge impact," he said.

In total, about 200,000 Americans have some type of inherited disease that causes blindness involving some 250 different genes, Rose said.

"We are not restoring 20/20 vision," he said. "We are restoring functional vision."

This means that people can be mobile without the need for a guide dog or a cane, Rose said.

Rose said this therapy treats only this one type of vision loss. "There are 22 different genes that can cause Leber congenital amaurosis -- RPE65 is only one of them," he said.

The treatment, voretigene neparvovec (Luxturna), was developed by Philadelphia-based Spark Therapeutics.

Clinical trials using gene therapy, drugs or cell therapy to treat other types of inherited visions are currently going on, Rose said.


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