A clinical trial that gave children with progeria an experimental drug that was initially intended for cancer patients has produced promising results, reports The Washington Times. The study found that children taking the drug lonafarnib had longer lifespans compared with those who didn’t.
Progeria, also known as Hutchinson-Gilford progeria syndrome, is a rare, incurable childhood disease that causes accelerated ageing. The condition is thought to affect approximately 400 children worldwide. It is caused by a genetic change that leads to a different form of the progerin protein that then builds up to toxic levels in cells. Although it has a genetic basis, progeria is not heritable. Babies born with the condition usually first begin to exhibit symptoms aged about one, when they do not put weight on or grow as expected. They are also likely to show other physical symptoms, including a large head and eyes, high-pitched voice, and hair loss. Over time, children with progeria develop diseases usually associated with those over fifty, such as hardening arteries, bone loss, and heart disease. These eventually become fatal, and most children with progeria do not survive past 13. Treatments for the disease focus on alleviating the symptoms. Children may be given medications for their heart, physical therapy plans to help their muscle stiffness, lots to drink, and, in some cases, surgery.
Researchers are working on developing more effective treatments and a cure for the disease, and a study was recently published in the Journal of the American Medical Association that found that an experimental cancer drug might prolong the life of patients with progeria. The study compared two groups of children with progeria; the first group of 27 took the drug lonafarnib, the second group of the same size were untreated. One child taking the medication died during the two-year study, compared to nine children in the second group. Those receiving lonafarnib were found to have improved symptoms and increased survival.
Dr Leslie Gordon, the co-founder of the Progeria Research Foundation charity, was the lead author on the study. She says
“For the first time ever we have a drug that is shown to extend lifespan for children with progeria.”
Her son, Sam Berns, was also a participant in the study. He has previously raised awareness and understanding of the disease through a critically acclaimed documentary about his life shown on HBO in 2013 called Life According to Sam.
