Tuesday 22 Jul 2014

Information and opinions presented here do not always represent the views of the American Heart Association.

Documentary follows teen with rare aging disease and his family’s fight for a cure

Published: 3:01 pm CDT, October 21, 2013

Sam Berns is a 16-year-old Eagle Scout who plays in his high school band and umpires baseball games.

However, he appears many decades older that his classmates and friends, due to a rare disease called Progeria, which rapidly speeds aging and has an average lifespan of 13.

The documentary film “Life According to Sam,” which debuted on HBO on Monday night, follows Sam and his family as they refuse to accept the grim prognosis and relentlessly pursue a treatment for the disease.

Sam’s parents, Drs. Leslie Gordon and Scott Berns, founded the Progeria Research Foundation in 1998 after Sam was diagnosed to advocate for more research on the disease and serve as a resource to other parents.

The foundation recently got a boost when New England Patriots’ chairman and chief executive Robert Kraft pledged to match up to $500,000 in donations after he saw the documentary and got to know Sam.

“I have fallen in love with Sam and I am sure that sentiment is shared by anyone who has ever spent time with him,” said Kraft. “’Life According to Sam’ is an amazing and powerful film that will introduce Sam, his family and his story to a national audience. Sam is a star and what his parents have achieved in their search to find a cure is incredibly inspirational. Together, they are championing a cause that has already positively impacted the lives of children around the world.”

The donation will help fund a clinical trial to explore the first treatment for this rare, fatal disease. Kraft said he will match every donation to the Progeria Research Foundation from now until Sam’s 17th birthday on Oct. 23.

There are several forms of Progeria. Sam has the classic type — Hutchinson-Gilford Progeria Syndrome.

Children with Progeria appear healthy when they’re born, but at about 18-to-24-months old they begin showing physical signs of the disease including failure to grow, loss of body fat and hair, thinner-looking skin, and stiffness of joints. Children with Progeria typically die from heart attacks or strokes resulting from accelerated atherosclerosis, which causes stiffening of the blood vessels.

Progeria is caused by a mutation in the gene that produces Lamin A, a protein that helps form and hold together the nucleus of the body’s cells. Researchers believe that Progeria results from a defective Lamin A protein, also known as progerin, which causes cellular instability and leads to diseases more typically associated with the elderly.

Although kids with Progeria have features resembling old age, “this is not just aging,” said Monica Kleinman, M.D., national spokesperson for the American Heart Association and director of the Medical/Surgical Intensive Care Unit at Boston Children’s Hospital. Kleinman has also been a researcher in the first two research trials evaluating treatments for Progeria.

The premature atherosclerosis in children with Progeria seems to be driven by loss of the smooth muscular layer of the arteries and the stiffening of the outer coating, which means the arteries can’t respond to changes in the blood flow needs of the heart and brain. Researchers are still working to understand exactly how the abnormal progerin protein leads to blood vessel disease, Kleinman said.

There are two major treatment trials—Sam has been in both of them, along with his mother as a researcher.

The first study, published in September last year, evaluated lonafarnib, a drug that appears to block production of some of the abnormal progerin. The hope is that lonafarnib will slow the progression of the disease or even reverse some of its effects, according to Kleinman.

The second, conducted by Kleinman with her colleagues at Boston Children’s Hospital, combines lonafarnib with the cholesterol-lowering drug pravastatin, and zoledronate, a drug used to prevent bone loss in post-menopausal women. Both appear to help block production of the abnormal progerin.

Although Progeria is extremely rare, affecting an estimated 250 kids worldwide, Kleinman said research into its effects can offer insight into the development of coronary artery disease and cerebrovascular disease that can occur when people age naturally. “There are studies that show that progerin increases in blood vessel tissues as you grow older,” she said.

In addition, “people can feel in their hearts that children aging prematurely and growing old before their time isn’t right, and we should try as a community to do something about it,” said Kleinman, who has a brief cameo in the documentary. “Trials have given hope for these families for whom there’s nothing else out there.”

Photo courtesy of HBO

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