Bringing hopes to parents, scientists have found the effectiveness of a drug in treating Progeria, a rare genetic condition that leads to early aging among small children.
The clinical trial of a drug, Lonafarnib, a Farnesyltransferase inhibitor (FTI), used to treat brain cancer showed helping children affected with Progeria to gain weight, improve bone structure and cardiovascular system.
Children affected with Progeria or Hutchinson-Gilford Progeria Syndrome (HGPS) exhibit symptoms that resemble normal human aging. According to the Progeria Research Foundation, the condition is prevalent among one in four to eight million newborns and about 200 to 250 children are affected with the condition across the world.
The Progeria children are born healthy, but start showing symptoms - growth failure, loss of body fat/hair, skin resembling with aged people, stiffness of joints - within the first year of birth. Progeria is caused by mutation in a gene called LMNA, which results in the production of a protein, progerin.
The condition puts children at higher risks of suffering from a wide range of health problems like osteoporosis, atherosclerosis and cardiovascular disease or stroke. Majority of the Progeria affected children die of heart attacks or strokes by age thirteen.
To examine the effectiveness of the drug, researchers included 28 children from 16 countries. All the participants received the drug FTI lonafarnib orally, twice a day during the two- and-a half year drug trial. At the end of the study, all the participants showed improvements in weight gain, flexibility of blood vessels and bone structure.
"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," Dr. Leslie Gordon, lead author of the study, medical director for PRF and mother of a child with Progeria, said in a news release.
Findings of the study have been published in Proceedings of the National Academy of Sciences.
