Hope for children with a rare “aging” disease

by Nancy Fliesler on September 25, 2012

Megan Nighbor

Megan Nighbor is one of about 100 children in the world known to have progeria, a genetic disorder that’s caused her to show signs of old age. Children die from this rare disease at an average age of 13 from a heart attack or stroke, and there’s been no treatment.

But in 2007, Megan and 27 other children with progeria from around the world were flown to Boston Children’s Hospital at the expense of the Progeria Research Foundation to enter a first-ever clinical trial. They each received a drug called lonafarnib, under the supervision of principal investigator Mark Kieran, MD, PhD, Director of Pediatric Medical Neuro-Oncology at the Dana-Farber/Children’s Hospital Cancer Center.

The results, just announced yesterday, are exciting. While we don’t yet know the drug’s effect on life expectancy, all the children had some of their aging symptoms reversed: 1 in 3 had a marked improvement in weight gain—or stopped losing weight and started gaining. More than a third had less blood vessel stiffness, a risk factor for strokes and heart attacks. And many had improved bone density and flexibility and better hearing.

The work continues: A second trial, adding two more drugs, is nearly complete, and a third is already planned.

“We want them to be living until they’re 80, having families and dying of true old age,” says Leslie Gordon, MD, PhD, Clinical Trial Co-Chair with the Progeria Research Foundation.

For more information on this exciting breakthrough, read in our sister blog, Vector, about how the original genetic discovery led to a successful clinical trial in just a decade—and what lessons the progeria story may offer about aging in all of us.

Leave a comment

Previous post:

Next post: