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.”
The two and a half year drug study consisted of 28 children from 16 different countries, accounting for 75 percent of Progeria cases worldwide. Twenty-six of the 28 children had the classic form of the disease. All 28 children traveled to Boston every four months to receive extensive medical testing through Children’s Hospital’s Clinical and Translational Study Unit.
The oral medication, the FTI lonafarnib, was given twice daily over the course of the study. The research team assessed the children’s rate of weight gain, compared to their pre-study rate. They viewed this as the primary outcome because these kids suffer from critical failure to thrive, characterized by extremely slow weight gain over time. Researchers also inspected stiffness of the arteries (a predictor of heart attack and stroke), as well as bone rigidity and density (a predictor of osteoporosis). Every child participating in the study showed significant improvement in weight gain ability, bone structure, or flexibility of blood vessels.