It's every parent's worst nightmare. Within months after your beautiful new baby is born, you are told she won't have long to live. And the years that she does live will be filled with pain and disfigurement. Such is the life of a child diagnosed with progeria, an extremely rare genetic mutation that causes premature aging in young children. But a new study might bring hope to families affected by this once hopeless disease.
Progeria, also called Hutchinson-Gilford progeria syndrome, is so rare that there are only about 200 children living with the disease around the world. It is caused by a genetic mutation that makes the body produce too much of the protein progerin, an overproduction that blocks normal cell function and causes the children it affects to age rapidly. Progeria often goes hand-in-hand with osteoporosis, loss of body fat, limited range of motion and heart disease. In fact, most children with progeria die from heart disease before they reach their teens.
Until recently, there was little that could be done to treat this disease or even manage its symptoms, but a new clinical trial may offer hope for families facing a progeria diagnosis. According to the study, which was published recently in the Proceedings of the National Academy of Sciences of the United States of America
, a drug called Lonafarnib shows promise in treating some of the symptoms of this disease.
Lonafarnib was originally developed by Merck & Co. to treat cancer, but in this new trial, it was given to 26 children from 16 countries who suffer from progeria. The participants took the drug twice a day for 30 months and researchers say that every child who took it benefited, either by gaining weight or showing improvements in bone structure or arterial stiffness.
That's huge news for the children who suffer from progeria and the families who love them. And hopefully this success will inspire more research into the treatment and cure of this mysterious disease.