An article recently appeared in Health News by NPR describing progeria, an extremely rare disease. There are only twenty people in the United States diagnosed with progeria.
The disease causes children to appear old by the time they are teenagers. Progeria causes children to remain small in stature and have the appearance of a person many years beyond their natural age. Most eventually succumb to heart disease and do not survive past their teens.
About Sam Berns, the Public Face of Progeria
Sam was diagnosed with progeria in 1998. He died in 2014 at seventeen years of age. His family has remained committed to finding a treatment for other children with the disease.
Despite his illness, Sam was very active in the Progeria Research Foundation that was created after Sam was diagnosed with the disease. The Foundation’s primary purpose was to find a cure for progeria.
Leslie Gordon, M.D., Sam’s mother, and attorney Audrey Gordon, Sam’s aunt, are on the board of the foundation. Sam’s father, Dr. Scott Gordon, is chairman of the board.
Sam was diagnosed with Hutchinson-Gilford progeria syndrome (progeria) when he was twenty-two months old. His parents soon realized that there was no available medical help, along with a lack of research and funding for these children.
Sam’s parents recognized an urgent need, and together with their colleagues and friends, launched the Progeria Research Foundation, Inc. The foundation stands as the singular non-profit in the world focused on progeria research.
Dr. Gordon, an assistant professor in pediatrics, is also medical director at the Progeria Research Foundation.
Sam’s Role at the Foundation
Sam was featured in a documentary. He spoke to NPR and various other media about progeria. A discussion about the disease featuring Sam online for TEDx talk has been viewed over forty million times.
The Gordons are constantly reminded that Sam never gave up, and they are determined to carry out his wishes.
About Progeria
The genetic cause of progeria was discovered in 2003. Progeria causes stiff joints, stunted growth, and loss of elasticity in the skin. The disease causes hardening of the heart arteries and strokes.
Progeria is not an inherited disease. It is caused by a mutation resulting in a buildup of a protein in cells called progerin. The new drug, Zokinvy, blocks the production of the damaging protein.
Testing began in 2007. Sam was one of the first children to receive Zokinvy, and it added several years to his life.
Side effects of Zokinvy that are reported most often are diarrhea, abdominal pain, nausea, vomiting, and fatigue.
This drug does not cure progeria, but it does slow the aging process. Dr. Gordon, along with her family, were instrumental in Zokinvy’s approval. She said that the drug prolongs the patient’s lifespan by about thirty months.
The Road to FDA Approval of Zokinvy
Although the first encouraging results of Zokinvy’s efficacy were published in 2012, there was no clear route to FDA approval.
With only twenty people in the United States diagnosed with progeria, all of whom were already participating in clinical trials, the team was unable to produce candidates for a control group.
Estimating 400 progeria patients worldwide, the team searched globally. It collected enough information from children with progeria to form a control group.
The Foundation also received assistance from Eiger BioPharmaceuticals of Palo Alto, California. Eiger was already providing the drug Zokinvy to patients who were participating in other clinical trials.
Adding valuable information from Eiger enabled the team to prove to the FDA that when Zokinvy is administered to children with progeria, it does extend their lives.
Eiger also contributed funds for research in addition to the majority of funds provided by the Progeria Foundation.
About the Trials
FDA’s approval centered on two studies with sixty-two participants. The drug was taken twice each day. Results were compared with eighty-one children throughout the world who had not been treated. Children were matched against others according to age and various characteristics.
After tracking the children who had taken the drug for eleven years, it was determined that, on average, the children lived thirty months longer. The oldest patient in the group, at 24 years of age, has been taking Zokinvy for thirteen years.
The price of Zokinvy, which is assumed to be quite expensive, has not yet been disclosed. Eiger is expected to offer patients financial assistance.
Looking Forward
Scientists have discovered that progerin is a substance that exists in small quantities in every individual. Therefore, researchers are now focusing on progerin as it relates to other diseases affecting the aging process.
