by Linda A. Johnson
In this photo taken on February 12, 2019, Meghan Waldron is walking down the street in Boston. Waldron is studying at Emerson College with progeria, one of the rarest diseases in the world. The first treatment was approved for progeria on Friday, November 20, 2020. The US Food and Drug Administration approved Zokinvy Friday, which tests have shown to add an average of 2½ years to patient life. (Suzanne Kreiter / The Boston Globe via AP)
The first drug was approved Friday for a rare genetic disorder that stifles growth and causes rapid aging in children after studies showed it can extend their lives.
Children with the genetic disorder progeria usually die in their early teens, usually from heart disease. When tested, children who took the drug Zokinvy lived an average of 2 1/2 years longer.
The US Food and Drug Administration approved the capsules for progeria and a related disease.
Research into treatment was funded primarily by the Progeria Research Foundation in Peabody, Massachusetts, with help from drug developer Eiger BioPharmaceuticals.
“This is only the first. We will find more and better treatments,” said Dr. Leslie Gordon, the foundation’s medical director.
Gordon, a childhood disease researcher at Hasbro Children’s Hospital in Providence, Rhode Island, founded the foundation with her sister and husband in 1999, shortly after their son Sam was diagnosed. He died in 2014 at the age of 17.
Only an estimated 400 people worldwide have progeria or a related condition, including 20 in the United States. The disorder causes stunted growth, stiff joints, hair loss, and old-looking skin. Children with this disease suffer from strokes and hardening of the heart arteries, and an average of 14 1/2 die.
The disorder is not inherited; it is caused by a random gene mutation that causes cells to build up a protein called progerin, after which the disorder is named. The drug blocks the production and accumulation of protein, slows down its damage and premature aging.
Until testing began in 2007, doctors could only try to relieve some symptoms.
Meghan Waldron of Deerfield, Massachusetts was diagnosed with progeria when she was 2 years old. She did not grow or gain weight and her hair fell out. She was one of the first children to get the drug.
“Pretty soon,” she said, “there were obvious improvements.”
She started to grow a little more – she is 3 feet, 7 inches tall now – and tests showed a slowdown in the hardening of her arteries.
19-year-old Waldron backpacked Europe alone last year after graduating from high school where she ran on track and off-road.
This photo from Eiger BioPharmaceuticals shows the drug Zokinvy. The first treatment was approved for progeria, an extremely rare genetic disorder that causes rapid aging, slows growth, and usually kills children in their early teens. The US Food and Drug Administration gave its approval on Friday, November 20, 2020. Zokinvy (Eiger BioPharmaceuticals via AP)
“My physical health is pretty good,” said Waldron, a creative writing student at Emerson College in Boston. “It’s just something I live with.”
She is still taking the drug as part of a long-term follow-up study.
“I’m so excited” to have her approval, she said.
The FDA action was based on two studies in which a total of 62 children took the drug twice a day. Their results were compared with 81 untreated children around the world who matched on age and other characteristics.
Participants were followed for up to 11 years, and those who took the drug lived an average of 2 1/2 years longer.
A total of four studies of the drug were conducted at Boston Children’s Hospital, with 22 children and young adults using the drug since 2010 or earlier. The oldest is 24 and has been taking it for 13 years.
Eiger, a small drug developer from Palo Alto, California, is not yet announcing the price of Zokinvy, also known as lonafarnib, but it is going to be expensive because there are so few patients. Eiger will offer financial support so that all patients can receive it.
The most common side effects with Zokinvy were vomiting, diarrhea, nausea, abdominal pain, and tiredness.
Gordon of the Foundation worked with the Director of the National Institutes of Health, Dr. Francis Collins, on laboratory tests that found the genetic cause of progeria in 2003.
She said the research “picks it up” may “enable patients to live longer, have stronger hearts, and heal.”
Study drugs give hope to children with less common rapidly aging diseases
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