First-ever Therapy to Demonstrate Survival Benefit in Progeria
A new study published in The Journal of the American Medical Association (JAMA) reports that lonafarnib, a farnesyltransferase inhibitor (FTI), helped extend survival in children with Progeria. Authors from Boston Children’s Hospital and Brown University tracked more than 250 children from six continents to demonstrate a link between lonafarnib treatment and extended survival.
The results of the clinical drug trial for children with Progeria are in and it’s official! The study using lonafarnib, a type of farnesyltransferase inhibitor (FTI) originally developed to treat cancer, supports extension of lifespan in children with Progeria. In the clinical trial, 27 children with Progeria received oral lonafarnib twice daily as a monotherapy. The control arm of this study consisted of children with Progeria with similar age, sex and continent of residency as the treated patients, who were not part of the clinical trial and therefore did not receive lonafarnib. The results demonstrated that treatment with lonafarnib alone compared with no treatment was associated with a significantly lower mortality rate (3.7% vs. 33.3%) after a median of 2.2 years of follow up. Results of the study, which was funded and coordinated by The Progeria Research Foundation, were published April 24, 2018 in The Journal of the American Medical Association.
Gordon et. al.,Association of Lonafarnib Treatment vs No Treatment With Mortality Rate in Patients With Hutchinson-Gilford Progeria Syndrome, JAMA, April 24, 2018 Volume 319, Number 16
Results Bring New Hope and Optimism
The children traveled to Boston Children’s Hospital to receive comprehensive medical testing and study medications. All received oral lonafarnib, an FTI supplied by Merck & Co. “This study published in JAMA shows evidence that we can begin to put the brakes on the rapid aging process for children with Progeria. These results provide new promise and optimism to the Progeria community,” said Leslie Gordon, MD, PhD, co-founder and Medical Director for PRF, and lead study author.
“At PRF, we are working tirelessly to fund new scientific breakthroughs for children living with Progeria. This study shows us that the clinical trials conducted today are our best hope for saving for these children in the future. Based on the promising results from this study with lonafarnib, we feel a stronger sense of urgency than ever. Today’s milestone marks a new beginning for these children and their families. Every day and every moment count. PRF’s goal is to find the cure for Progeria and this study brings us one more step towards that goal,” said Meryl Fink, President and Executive Director, PRF
Here is a sampling of the press coverage received:
- MedPage Today
Drug Could Make Progeria Manageable
- Boston Globe
A pediatric researcher whose son died of progeria sees promise in new treatment April 24, 2018
- Brown News
Research suggests promising drug therapy for premature aging disease April 24, 2018
“This is a story that is inspiring on many levels. There is the potential to transform the lives of a group of very special children. But it is also exemplary of the scientific method gone right, where rigorous basic science and a smart application of an existing drug combined to produce outcomes that are genuine breakthroughs.”
– F. Perry Wilson MD, MSCE, Yale School of Medicine, MedPage Today
How Did We Get to This Wonderful Day?
Following the 2003 discovery of the gene mutation that causes Progeria, PRF-funded researchers identified FTIs as a potential drug treatment. The Progeria-causing mutation leads to the production of the protein progerin, which damages cell function. Part of progerin’s toxic effect on the body is caused by a molecule called a “farnesyl group,” which attaches to the progerin protein and helps it damage the body’s cells. FTIs act by blocking the attachment of the farnesyl group onto progerin, reducing the harm progerin causes.
For more study details, Click here for press release
“Demonstrating effectiveness of treatments in this small population of children with this rare fatal disease is a major challenge. Thus, I’m particularly encouraged by these latest finding.”
– Dr. Francis Collins, Director of the National Institutes of Health
Progeria Linked to Normal Aging Process
Research shows that the Progeria-causing protein progerin is also produced in the general population and increases with age. Researchers plan to continue exploring the effect of FTIs, which may help scientists learn more about the cardiovascular disease that affects millions, as well as the normal aging process that affects us all.
Thank you ALL – We Couldn’t Have Done it Without You!
One of the main reasons we achieved these breakthrough results is because of the tremendous supporters who provided funding and other support, helping to get us one step closer to achieving our ultimate goal – a cure for Progeria.