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FDA Approves First Drug For Rare, Rapid-Aging Genetic Disorder

LULU GARCIA-NAVARRO, HOST:

The Food and Drug Administration has approved the first drug for a rare genetic disorder that causes children to grow old before they grow up. NPR's Jon Hamilton reports that the drug is largely the result of one family's effort to help a child with the fatal condition.

JON HAMILTON, BYLINE: The disorder is called progeria. Children born with it appear old and frail before they reach school age. Most die of heart disease in their early teens. But Dr. Leslie Gordon of the Progeria Research Foundation says a drug called Zokinvy can help.

LESLIE GORDON: Zokinvy is a treatment. It's not a cure. But what we can say is that, so far, we know that it increases the average lifespan by about two and a half years.

HAMILTON: Gordon and her family played a crucial role in making Zokinvy possible. Their goal was to find a treatment for Gordon's son, Sam Berns. He was diagnosed with progeria in 1998. In 2013, he gave a TEDx Talk on how to live a happy life.

(SOUNDBITE OF TEDX TALK)

SAM BERNS: The first aspect to my philosophy is that I'm OK with what I ultimately can't do because there's so much that I can do.

HAMILTON: At the time, Sam was 17, bald, frail and weighed about 50 pounds. He was already taking Zokinvy.

(SOUNDBITE OF TEDX TALK)

BERNS: Last year, my mom and her team of scientists published the first successful progeria treatment study.

HAMILTON: And Gordon says the drug seemed to be extending her son's life.

L GORDON: I think Sam felt that way. And looking at the data and as parents, we felt that way, too.

HAMILTON: Sam Berns died in 2014. Since then, his TEDx Talk has been watched on YouTube more than 42 million times. And the family members who came together for Sam are still looking for a cure. His aunt, Audrey Gordon, is president of the Progeria Research Foundation.

AUDREY GORDON: We make a really great team with Leslie being the medical director in charge of the science aspect. I'm in charge of the fundraising, organizational. And her husband, Scott, is the chairman of the board.

L GORDON: Audrey Gordon says the approach reflects a philosophy embraced by her nephew, a big sports fan.

A GORDON: Whenever someone asked, who's your favorite player on your beloved Patriots or your Boston Bruins? - he always refused because he just felt like it wasn't any one person that made the team. It was the team as a whole.

HAMILTON: Team Sam published the first evidence that Zokinvy worked in 2012. But getting FDA approval required a whole new effort. The problem was that pretty much every kid in the U.S. with progeria - there are only about 20 - was already being treated with the drug as part of a clinical trial. There was no comparison group. So Leslie Gordon says the foundation began a worldwide search.

L GORDON: We gathered up information on as many children who had not been treated with Zokinvy as we could. And that was our sort of external control group.

HAMILTON: The foundation also added a new member to their team, Eiger BioPharmaceuticals. Eiger had been providing Zokinvy to progeria patients in clinical trials. It's also developing the drug for treating a form of hepatitis. Leslie Gordon says that with Eiger's help, her team was able to convince the FDA that children who got the drug really did live longer.

L GORDON: We just kept going back and back and saying, what does it take? What does it take? What does it take? And those survival studies is what it took. So we did them.

HAMILTON: Now Gordon and her family are looking for something even better.

L GORDON: Sam never gave up. The other children - they never give up. The courage is astounding.

HAMILTON: And it turns out that progerin, the substance responsible for the condition, is present in all people, just in much smaller quantities. So understanding progeria could lead to treatments for a wide range of diseases related to aging. Jon Hamilton, NPR News. Transcript provided by NPR, Copyright NPR.