The first drug for rare rapid aging disease prolongs the life of a child | News

The first drug was recently approved for a rare genetic disorder that impedes growth and causes rapid aging in children, after studies have shown that they can extend their lifespan.

Children with hereditary progeria usually die of heart disease in their early teens. However, in tests, children taking the drug Zokinvy lived an average of two and a half years longer.

The US Food and Drug Administration has approved capsules for progeria and related conditions.

Therapeutic research was primarily funded by the Progeria Research Foundation in Peabody, Massachusetts, and supported by drug developer Eiger Biopharmaceuticals.

“This is the first time, and we will find more and better treatments,” said Dr. Leslie Gordon, Foundation’s Medical Director.

Gordon, a pediatric disease researcher at Hasbro Childrens Hospital in Providence, Rhode Island, founded the Foundation in 1999 with his sister and husband shortly after his son Sam was diagnosed. He died in 2014 at the age of 17.

An estimated 400 people worldwide, including 20 in the United States, have progeria or related conditions. This disorder causes stunting, joint stiffness, hair loss, and aged skin. Children with this disease suffer from stroke and hardening of the heart arteries, dying on average 14 1/2.

Although the disorder is not hereditary, it is named because of an accidental genetic mutation that causes the harmful accumulation of a protein called progerin in the cell. The drug blocks protein production and accumulation, delaying its damage and premature aging.

Until the test began in 2007, doctors could only relieve some of the symptoms.

Meghan Waldron of Deerfield, Massachusetts was diagnosed with progeria by the age of two. She wasn’t growing or gaining weight and had lost her hair. She was one of the first children to get the drug.

“Soon there was a clear improvement,” she said.

She began to grow a little more — she is now 3 feet, 7 inches high — and tests showed a slowdown in hardening of her arteries.

After graduating from high school, 19-year-old Waldron backpacked only in Europe last year, where he ran athletics and cross-country skiing.

“My physical health is pretty good,” said Waldron, a second-year creative writing student at Emerson College in Boston. “That’s what I live with.”

She is still taking the drug as part of a long-term follow-up.

“I’m very excited about the approval,” she said.

The FDA’s actions were based on two studies in which a total of 62 children took the drug twice daily. Their results were compared to 81 untreated children worldwide, consistent with age and other characteristics.

Participants were followed for up to 11 years, and those who took the drug lived an average of two and a half years longer.

At Boston Children’s Hospital, 22 children and young adults have been taking the drug since before 2010, and a total of four studies have been conducted. The oldest is 24 years old and has been taking it for 13 years.

Eiger, a small pharmaceutical company in Palo Alto, California, has not yet disclosed the price of Zokinby, also known as lonafarnib, but it will be expensive due to the very small number of patients. Eiger provides financial assistance so that all patients can get it.

The most common side effects of Zokinvy were vomiting, diarrhea, nausea, abdominal pain and malaise.

The Foundation’s Gordon collaborated with Dr. Francis Collins, director of the National Institutes of Health, in a laboratory study that discovered the genetic cause of progeria in 2003.

She said the study “Pike is coming” could “live longer, have a stronger heart, and move towards treatment” for patients.