Dr. Leslie Gordon worked on a research being done to understand progeria
and identify a new treatment working as a scientist but also as a mother of Sam
Berns, who was diagnosed with progeria in 1998, so in 1999 the foundation was
created. In April 2003 they found the cause of progeria, a mutation in the LMNA
gene. In September 2012 the first treatment for progeria was found, but the
group of scientist of the “Progeria Foundation” keep working to find an actual
cure for the disease.
The 2012 treatment by the Progeria foundation consisted in the use of Lonafarnib, a type of farnesyltransferase inhibitor (FTI) that was originally developed to treat cancer, and surprisingly has proven to be effective for Progeria. Every child showing improvement in one or more of four ways: better hearing, improved bone structure, gaining additional weight and most importantly, increased flexibility of blood vessels. Results of the study, which was funded and coordinated by The Progeria Research Foundation, were published September 24, 2012 in Proceedings of the National Academy of Sciences.
Twenty-eight patients with Progeria from different countries participated in the two and a half year drug trial. Every four months the children traveled to Boston to receive the medication at the Boston Children’s hospital. They all received oral lonafarnib, an FTI supplied by Merck & Co., twice-a-day for two years, under the supervision of clinical trial chair Mark Kieran, M.D., Ph.D., Director of Pediatric Medical Neuro-oncology at the Dana-Farber / Children’s Hospital Cancer Center, and co-chairs Dr. Monica Kleinman and Dr. Leslie Gordon.
The most recognizable outcome of the trial was that the rate of weight gain increased, because children with Progeria experience severe failure to gain weight over time. The researchers examined many other areas of the body, including arterial stiffness (a predictor of heart attack and stroke), bone rigidity (an indicator of bone strength) and hearing
The 2012 treatment by the Progeria foundation consisted in the use of Lonafarnib, a type of farnesyltransferase inhibitor (FTI) that was originally developed to treat cancer, and surprisingly has proven to be effective for Progeria. Every child showing improvement in one or more of four ways: better hearing, improved bone structure, gaining additional weight and most importantly, increased flexibility of blood vessels. Results of the study, which was funded and coordinated by The Progeria Research Foundation, were published September 24, 2012 in Proceedings of the National Academy of Sciences.
Twenty-eight patients with Progeria from different countries participated in the two and a half year drug trial. Every four months the children traveled to Boston to receive the medication at the Boston Children’s hospital. They all received oral lonafarnib, an FTI supplied by Merck & Co., twice-a-day for two years, under the supervision of clinical trial chair Mark Kieran, M.D., Ph.D., Director of Pediatric Medical Neuro-oncology at the Dana-Farber / Children’s Hospital Cancer Center, and co-chairs Dr. Monica Kleinman and Dr. Leslie Gordon.
The most recognizable outcome of the trial was that the rate of weight gain increased, because children with Progeria experience severe failure to gain weight over time. The researchers examined many other areas of the body, including arterial stiffness (a predictor of heart attack and stroke), bone rigidity (an indicator of bone strength) and hearing