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Thursday
Jun302011

Progeria Patients May Get Hope with New Research

Jupiterimages/Thinkstock(BOSTON) -- Doctors may be closer to finding a cure for patients with Progeria, an extremely rare and fatal genetic disorder which causes children to age eight to 10 times the normal rate, according to a new study published in Science Translational Medicine.

Progeria is caused by a protein called progerin which accumulates in cells much faster than the average rate.  But 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."

Out of every four to eight 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.

Currently, 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 it as a treatment in Progeria patients.

Copyright 2011 ABC News Radio

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