First Successful Treatment for Progeria, Rare Childhood Disease

First Successful Treatment for Progeria, Rare Childhood Disease26 Sep 2012-nbsp;-nbsp;-nbsp;


Results of the first clinical drug trial for children with a rare rapid-aging disease, known as Progeria, has shown successfulness with a farnesyltransferase inhibitor (FTI), a drug first used to treat cancer.

The clinical trial results showed significant improvements in bone structure, weight gain, and most importantly, the cardiovascular system, according to new research published in Proceedings of the Natural Academy of Sciences.

Also known as Hutchinson-Gilford Progeria Syndrome (HGPS), Progeria is a rare and fatal genetic disease displaying an appearance of rapid aging in children. The disease becomes fatal when those affected develop the same heart disease (atherosclerosis), as millions of normal aging adults. Instead of this occurring at 60 or 70 years of age, children with Progeria can suffer heart attacks or strokes starting at the age of 5, with the average age of death being 13.

Leslie Gordon, MD, PhD, lead author of the study, medical director for PRF, and mother of a child with Progeria, says:

"To discover that some aspects of damage to the blood vessels in Progeria can not only be slowed by the FTI called lonafarnib, but even partially reversed within just 2.5 years of treatment is a tremendous breakthrough, because cardiovascular disease is the ultimate cause of death in children with Progeria."



Hutchinson-Gilford Progeria Syndrome is a childhood disorder caused by mutations in one of the major architectural proteins of the cell nucleus.