Three-year-old Jack Frye of Newbury Park soon will be the first patient at UCLA's Mattel Children's Hospital to receive a new infusion treatment for a genetic disease called mucopolysacchridosis (MPS) II, or Hunter syndrome.

The Federal Drug Administration's recent approval of the enzyme replacement therapy called Elaprase, developed by the pharmaceutical company Shire, marks the first time there is hope for this rare and potentially fatal condition.

It is an exciting time for not only Jack and his family, but genetics experts as well.

"In the field of genetics, we have always been good at diagnosing the problem but not at offering a treatment," said Michelle Fox, M.S., C.G.C., adjunct assistant professor of pediatrics in the division of medical genetics at Mattel Children's Hospital at UCLA. "This is the perfect example of 'bridging the gap' and being able to offer families an answer when asked what can be done for the diagnosis."

Hunter syndrome is caused by the body's inability to produce specific enzymes to break down and recycle materials in cells, which causes a destructive storage of materials in the joints and organs. Symptoms include growth delay, joint stiffness and coarsening of facial features. With severe cases, patients can experience respiratory and heart problems, enlargement of the liver and spleen, neurological deficits or death.

While the disease may not be apparent at birth, signs and symptoms develop with age as the disease progresses. It affects mainly males and is usually diagnosed between ages of 1 and 3. Hunter syndrome, one category of MPS disorders, is diagnosed in approximately one out of every 65,000 to 132,000 births. With research and treatments being developed, early diagnosis is crucial.

The enzyme replacement therapy infuses the enzyme back into the body and can help slow or stop the progression of the disease. Treatment involves a weekly intravenous infusion. The drug helps maintain or improve the patient's mobility.

Jack was diagnosed with Hunter syndrome when he was 18 months old. He has mild hearing impairment, receives weekly physical therapy, attends preschool and participates in speech and language therapy. Jack's mother describes him as a happy boy who loves life and presently is only mildly affected by the cellular damage that occurs throughout his body.

"When Jack was diagnosed, we were told there was no treatment or cure for Hunter syndrome. We believed initially that our time with Jack was ticking away," said his mother, Kimberly Frye. "Now that we have this treatment, our hopes for Jack are for him to lead as normal a life as possible."

Dr. Eric A. Crombez, assistant professor of pediatrics in the division of medical genetics at Mattel Children's Hospital at UCLA, said that the development of this new drug therapy "is one example of how we are now able to provide meaningful treatments for patients suffering from genetic diseases."

"This effort demonstrates the commitment and cooperation of patients, families, investigators and specialty pharmaceutical companies involved in the development of new therapies for genetic disorders," Crombez said.

Crombez and Fox have an educational grant with Shire through its Extramural Clinical Research and Education program. These funds support education for patients and families affected by these illnesses.

Mattel Children's Hospital at UCLA offers a full spectrum of primary and specialized medical care for infants, children and adolescents. The mission of Mattel Children's Hospital at UCLA is to provide state of-the-art treatment for children in a compassionate atmosphere, as well as to improve the understanding and treatment of pediatric diseases. For more information, please visit http://www.mattel.ucla.edu/.

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