Progeria Patients May Get Hope With New Research

June 30, 2011— -- When Zoey Penny was only 4 weeks old, her parents noticed that the skin on her belly was hard to the touch.

What they thought was a rash began to spread to her thighs and back. Months passed without an answer, as doctors and specialists ran batteries of tests on her little body. In March 2010, she was finally diagnosed with Hutchinson–Gilford Progeria Syndrome, an extremely rare and fatal genetic disorder which causes children to age eight to 10 times the normal rate.

The word progeria comes from the Greek word meaning "prematurely old."

"Zoey is 20 months old and only weighs 14 pounds," said her grandfather, John Marozzi, of Boonton Township, N.J. "She takes a human growth hormone shot every day to keep her body and bones strong. She's lost most of her hair. We worry about osteoporosis."

"But she's one happy and feisty child," Marozzi continued. "She's tough as nails and full of personality."

Zoey is only one of 78 children around the world known to have Progeria disease. Out of every 4-to-8 million births worldwide, one child will be diagnosed with the condition.

Progeria patients appear healthy at birth, but soon after, parents and doctors begin to see signs of the condition. Children with the disease are well below the average height and weight for their age. Their head is disproportionately large for the face, they have a beaked nose, hair loss, a hardening of the skin and stiff joints.

The disease is caused by a protein called progerin which accumulates in cells much faster than the average rate. But a new study, published in Science Translational Medicine, may give experts clues toward a cure for Progeria patients. Researchers found that a drug known as rapamycin slowed and even stopped the disease progression within the cells.

While the drug has only been tested in Petri dishes, scientists are excited about rapamycin's potential to treat the condition.

"Part of the problem with aging starts when debris is accumulating in the cells and it's not getting removed, and this particular drug is able to enhance the removal process," said Dr. Dimitri Krainc, lead author of the study. "It would be too optimistic to say this could completely cure Progeria patients, but we're hoping that this drug could make these kids live longer with fewer complications."

Right now, the average lifespan of a Progeria patient is 13 years old.

"Lifespan can really range from 5 or 6 years to 22 years old," said Dr. Ted Brown, a pediatrician who has spent 30 years researching Progeria. "In a typical course, by the time a patient gets to be 9 or 10, there is a hardening of the arteries, and they die of heart disease—heart attack and stroke most typically."

The drug is already approved by the Food and Drug Administration as an antibiotic to fight rejection in organ transplant recipients. Because it is already used for certain conditions, Krainc said this may allow for physicians to jumpstart clinical trials to test as a treatment in Progeria patients.

"Parents and patients have reason to be hopeful and excited," said Krainc. "It's a devastating illness, and these effects are pretty dramatic. We really hope that this will help translate into clinical treatment."

Krainc said the Progeria Research Foundation is "doing everything possible" to create a clinical trial with the drug to use in Progeria patients as soon as possible.

"We're looking for something that can slow this down," said Marozzi, who has helped raised nearly $600,000 for the Progeria Research Foundation. "I go to bed thinking, 'tomorrow may be the day,' so we take every little success and just hope that something big happens."