Patient advocacy group paves way for breakthrough gene therapy for genetic disease

GROTON, Conn. (WTNH)–We first met Sofia Priebe when she was just ten years old, in a story raising awareness of her rare degenerative genetic condition.

She was born with severe vision loss that can lead to total blindness.

It’s hard to see things that are far away, or when its really bright out,” Sofia said.

Her mom, Laura Manfre, co-founded Sofia Sees Hope, a patient advocacy group, soon after.

The group is transforming the lives of those living with rare inherited retinal diseases, or IRD’s.

Her testimony before an FDA panel helped pave the way to the approval of Luxturna, the first drug treatment for people with IRD.

“This is like the moon landing for science,” says Laura. “This is the very first genetic therapy for genetic disease approved for market in the United States.”

But Sofia, now 14 years old, will not be among those who will benefit.

“This treatment is not for her gene,” Laura said. “Her gene is unfortunately a little bit more complicated.”

Patients who can take advantage of it will be injected with the drug.

“With Luxturna, we are finding that we can actually restore to some degree vision, again it’s early stages,” says Dr. George Adrian, who is on the Board of Directors for the nonprofit.

He explains, “It correctly codes the defective genetic sequence and restoring the photo receptor integrity so the eye can function again.”

The hope is the research behind the breakthrough treatment will lead to developing drugs that could someday help other patients like Sofia.

The FDA approval underscores much needed research and funding for rare conditions.

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