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FDA approves first drug for rare disease that causes premature aging in children

Meghan Waldron is a sophomore at Emerson College with progeria, one of the world's rarest diseases.
Meghan Waldron is a sophomore at Emerson College with progeria, one of the world's rarest diseases.Suzanne Kreiter/Globe staff

The US Food and Drug Administration approved a medicine Friday to treat one of the world’s rarest diseases.

Progeria is a fatal genetic disorder that causes premature aging in children. Researchers have identified 181 children worldwide living with the genetic mutation, including 20 in the United States.

Children diagnosed with progeria have an average life expectancy of 14 years and often die due to a hardening of the arteries. Now physicians will soon be able to prescribe an approved drug shown in clinical trials to decrease the rate of mortality by 60 percent and prolong lives by an average of two and a half years.

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“It is tremendously energizing,” said Dr. Leslie Gordon, the medical director and principal investigator of the Progeria Research Foundation. “It certifies there is a drug for progeria ... it is a huge leap forward.”

For Gordon, the news is deeply personal. She cofounded the Progeria Research Foundation along with her husband in 1999. They hadn’t heard of the disease until their son, Sam Berns, was diagnosed about a year earlier.

Dr. Leslie Gordon and Scott Berns's son, Sam, starred in the 2013 HBO documentary “Life According to Sam" about living with progeria.
Dr. Leslie Gordon and Scott Berns's son, Sam, starred in the 2013 HBO documentary “Life According to Sam" about living with progeria.HBO Documentaries

At the time, there was no known cause of progeria, so they set out on a mission to change the course of life for Sam and other children living with the disease across the world.

Approval of the drug, called lonafarnib — its brand name is Zokinvy — is a nod to decades of work propelled and funded by the Peabody-based nonprofit. The group has supported research to identify the root cause of progeria, and it has led several clinical trials for treatments.

“It feels spectacular,” Gordon said. “Now when somebody finds out that their child has progeria, they will immediately find out there is a treatment.”

The first clinical trial of lonafarnib began at Boston Children’s Hospital in 2007. Gordon’s son, Sam, was enrolled, along with more than two dozen children. He took the drug until he died of progeria in 2014, at the age of 17.

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Since 2007, more than 90 children have been treated with the drug, which is taken orally twice a day through capsules. Gordon and others published a study in 2018 in the Journal of the American Medical Association, which found the treatment significantly lowered the disease’s mortality rate compared with those who didn’t take it.

Among those heartened by the FDA’s approval is Meghan Waldron, a 19-year-old sophomore at Emerson College studying creative writing. Waldron started taking the drug 13 years ago in clinical trials at Boston Children’s Hospital.

“I am really excited about the approval,” she said in an interview Friday. “I didn’t really know what a drug trial really meant, mainly because I have been doing it my whole life ... but then at some point I realized this isn’t a thing that happens that often. For it to be approved is great.”

There are more than 7,000 rare diseases affecting more than 30 million Americans, according to the National Organization for Rare Disorders, a nonprofit patient advocacy group. The Orphan Drug Act signed into law by President Reagan gave drug companies major incentives to develop medicines for conditions that affected no more than 200,000 Americans, including tax credits and the exclusive right to market their new drugs for seven years.

Gordon estimates the Progeria Research Foundation has spent around $10 million on work contributing to the approval of progeria’s first treatment. For its clinical trials, the organization covers all patient expenses from travel to lodging, and pharmaceutical companies have provided the drug free of charge.

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Dr. Leslie Gordon in 2018.
Dr. Leslie Gordon in 2018.Aram Boghosian for The Boston Globe

California-based drug firm Eiger BioPharmaceuticals will sell Zokinvy in the United States. A spokesperson for Eiger said that the cost will be comparable to other life-extending medicines for ultra-rare diseases and that they “do not expect cost to be a barrier to patient access.” Eiger is launching a program to provide support and financial assistance for the treatment.

Gordon said her foundation will keep working to discover additional treatments and, she hopes, a cure for progeria one day.

“As Sam would say, you just keep moving forward,” she said. “We are working really, really hard for the best reason possible: to save these kids’ lives.”


Anissa Gardizy can be reached at anissa.gardizy@globe.com. Follow her on Twitter @anissagardizy8.