The original author of this article is Amy Dockser Marcus
Research led by the National Institutes of Health may suggest new avenues of treatment for a rare childhood disorder–and insights into the aging process.
A group of scientists led by NIH director Francis S. Collins are reporting that the drug everolimus clears out a protein called progerin from cells of children with progeria. This protein builds up to toxic levels in patients with progeria, a rapid-aging disorder that causes children to die of heart attacks or strokes in their teens.
Everyone makes progerin, a mutant form of the protein Lamin A, which is critical to organizing the genome inside the body’s cells. As WSJ has reported , there is a growing body of research that shows progerin accumulates as we grow older. In today’s study, the researchers found that everolimus also reduced progerin in cells from healthy people and prolonged cell life. Everolimus is a derivative of the immunosuppressant rapamycin, which has been shown in previous work to extend the life span of mice.
The study, published today in Science Translational Medicine , found that everolimus appears to rev up cells’ own recycling system so they clear the toxic progerin out more rapidly. The underlying defect driving the genetic disease remains, Collins told the Health Blog, “but the amount of protein is reduced by 50% in treated cells, which has a profound effect on survival.”
In the paper, the researchers concluded that the data are so compelling that the drug should be tested in children with progeria. They point out that everolimus has been tested in children before.
Last November, the FDA approved Afinitor, the brand name for everolimus tablets made by Novartis Pharmaceuticals, for the treatment of patients with benign brain tumors associated with another rare disease called tuberous sclerosis. The FDA approval was based on a 28-patient study conducted by Cincinnati Children’s Hospital Medical Center. The median age in that trial was 12, according to David Neal Franz, a neurologist who led the trial.
Leslie Gordon, medical director of the nonprofit Progeria Research Foundation, which helped fund work in the new paper, said researchers are considering how to launch an everolimus trial. She is also co-chair of a trial of a three-drug cocktail trial currently under way at Children’s Hospital Boston in 45 children with progeria. That trial team has had preliminary conversations with the FDA about the possibility of a new everolimus trial, she told the Health Blog.
Researchers are excited that everolimus appears to use a different avenue of attack on progerin than the three drugs. Gordon said, “This offers a new option to test.”