Children with rare rapid-aging disease get hope from study drug

Children with a rare, incurable disease that causes rapid aging and early death may live longer if treated with an experimental drug first developed for cancer patients, a study suggests.

The small, preliminary study isn’t proof the drug works and it found only a small benefit: Treated children with the disease progeria were more likely than others to survive during the two-year study. But some kids taking the drug in this and other studies have lived into their late teens. Researchers and others say the results suggest a potential breakthrough for a heartbreaking condition that typically kills kids before they reach adulthood.

“Anything we can do to try to provide them hope of a longer life is well worth doing and well worth celebrating,” said Dr. Francis Collins, director of the National Institutes of Health, who was not part of the new study. A geneticist, Collins led laboratory experiments that in 2003 identified the genetic basis for the disease, formally known as Hutchinson-Gilford progeria.

Among 27 children with progeria who got the drug lonafarnib, one died during the 2007-2010 study. That’s compared with nine of 27 untreated children with the disease. Thirteen of the treated children are still alive; most began taking other experimental drugs too.

“For the first time ever we have a drug that is shown to extend lifespan for children with progeria,” said lead author Dr. Leslie Gordon of Brown University. Her son was a study participant and died in 2014 at age 17.

The results were published Tuesday in the Journal of the American Medical Association.

However, the study, conducted at Boston Children’s Hospital, was unusually designed, comparing children given the drug with other progeria patients worldwide who weren’t enrolled in the study. The untreated kids were matched as closely as possible with study participants by age, gender and other characteristics, but they weren’t a standard control group and didn’t receive dummy medication.

That design weakens the study conclusions, said Dr. Howard Worman, a Columbia University biologist. “You really cannot say anything ‘worked’ without a contemporary placebo control.”