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News Releases

For Immediate Release

Children’s Hospital of Pittsburgh to Establish Fragile X Center and Nation’s First Registry of Patients with the Disease

Children’s Hospital of Pittsburgh has received a three-year federal grant of almost $900,000 to establish a center for the research and treatment of Fragile X Syndrome, a genetic disorder that causes mental retardation.

Children’s Fragile X Center – one of only a handful in the nation – will provide a comprehensive approach to treatment including medical, educational and behavioral consultation. Children’s new center will be under the direction of David Perlmutter, MD, physician-in-chief and scientific director at Children’s.

Physicians and researchers will evaluate children with Fragile X, coordinate their treatment, and conduct physiological and behavioral testing. This information ultimately will be used for early intervention studies of the most effective drug therapies and other treatments.

The center also will include the establishment of the first national registry of Fragile X patients, which will allow for treatment studies and a more thorough review of symptoms.

“We anticipate that our efforts will provide groundbreaking data on children with this disease as a prelude to the development of a national registry for these patients,” Dr. Perlmutter said. “We hope that establishing a Fragile X Center and research laboratory at Children’s will lead to earlier detection of this disease and effective treatments, such as gene therapy.”

Fragile X is the most common inherited cause of mental retardation and observable characteristics appear in approximately one in 1,000 males and one in 2,500 females, according to the National Institute of Child Health & Human Development. There currently is no cure for Fragile X, and treatment is aimed at relieving or alleviating the symptoms, which can include mental impairment that ranges from learning disabilities to severe mental retardation and autism.

The $881,000 grant was awarded through the U.S. Army and continues until January 2006.

“With this grant, Children’s is seizing an opportunity to become a national leader in the study and treatment of Fragile X,” said Dena Hofkosh, MD, director of the Child Development Unit at Children’s. “It allows us to develop the infrastructure for a comprehensive center that oversees research, treatment and educational efforts.”

Establishing this center may lead to earlier detection of patients with Fragile X, thereby allowing Children’s physicians to coordinate treatment sooner to improve behavioral symptoms and learning disabilities. Clinical services at Children’s Fragile X Center will be provided by Carol Delahunty, MD, of the hospital’s Child Development Unit.

Contacts:
Marc Lukasiak, 412-692-5016, Marc.Lukasiak@chp.edu
Melanie Finnigan, 412-692-5016,Melanie.Finnigan@chp.edu

Last Update
February 20, 2008
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Last Update
February 20, 2008
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