New hope in fight against rare aging disorder

Already, doctors at Children’s Hospital Boston, who have seen more than half the known progeria patients in the world, are planning the largest clinical trial yet based on the findings.

“I am a glass half-full person, but for a parent you can’t go fast enough,’’ said Dr. Leslie Gordon, an associate professor of pediatrics at the Warren Alpert Medical School at Brown University, who abandoned plans to go into ophthalmology when her son was diagnosed with progeria in 1998. Instead, she helped found The Progeria Research Foundation to support research into the disease, known to afflict 80 children worldwide, and began amassing the world’s largest collection of tissue samples from patients and family members.

The new result is the continuation of a story with deep local roots that weaves together genetics, families who unite to push science forward, and a heartbreaking disease that seized the attention of doctors and scientists as it became clear that helping these children could provide powerful insights into normal aging.

In many ways, children with progeria, formally known as Hutchinson-Gilford progeria syndrome, live completely normal lives. They play, think, and act just like other kids their age. Such is the case with Gordon’s son, Sam, a 14-year-old who just graduated from eighth grade.

Because of a single mistake in the six billion letters in the genome, children with progeria accumulate too much of a protein called progerin in their cells. They develop bone and skin problems before their first birthday. They are smaller than their peers and have so much trouble keeping fat on their body that veins on their foreheads become visible. They suffer from the same cardiovascular problems that kill many adults and live, on average, to be only 12.