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For Immediate Release

Children’s Patient First in Western Pennsylvania to be Treated with New Enzyme Replacement Therapy for Deadly Genetic Disorder

Children’s geneticist instrumental in development of life-saving treatment approved this year

Doctors at Children’s Hospital of Pittsburgh played an important role in research that lead to the development of the first-ever treatment for an often fatal disease.

Andrue Mosley, 5, son of Carmen and Richard Mosley Jr. of Plum, Pa. is the first child in western Pennsylvania to receive this new enzyme replacement therapy for the rare and often deadly genetic disease Mucopolysaccharidosis, type I (MPS I). The new treatment was approved by the U.S. Food and Drug Administration on April 30, 2003.

Andrue received his first infusion of the enzyme replacement therapy, Aldurazyme, on Aug. 22, 2003. He must continue these treatments weekly under the direction of Children’s geneticist John A. Barranger, MD, PhD, one of the country’s leading experts on genetic diseases. Andrue needs to continue this enzyme replacement therapy for the rest of his life to counteract the life-threatening effects of MPS I.

Closely collaborating with Dr. Barranger are Children’s physicians David N. Finegold, MD, an endocrinologist and geneticist, and Ann E. Thompson, director of Critical Care Medicine.

Dr. Barranger has played a leading role in the development, study and use of enzyme replacement therapy for all of the lysosomal storage disorders, including MPS I, MPS II, MPS IV, Fabry disease and Pompe disease. He developed successful enzyme replacement therapy for Gaucher disease, another rare and sometimes fatal lysosomal storage disorder. The therapy Dr. Barranger developed serves as a treatment model for more than 50 related lysosomal storage disorders, including MPS I.

Patients with MPS I lack a certain enzyme that processes naturally occurring complex carbohydrates in the body. Without this enzyme, these substances accumulate in the body, causing damage to several organs including the lungs, liver, and heart, as well as bones, joints and eyes. The most severe forms of this disease can be fatal.

“Without a treatment for MPS I, Andrue could face a lifetime of severe health problems,” Dr. Barranger said. “Babies struggle to breathe, combat ongoing respiratory infections and often have serious cardiac problems. Skeletal and joint deformities often prevent them from walking normally, if at all.”

Aldurazyme replaces the enzyme missing in patients with MPS I. Enzyme replacement therapy has been successful in treating other genetic disorders including Gaucher disease and Fabry disease and is one of the most important emerging new directions in medicine.

“It is important to help parents recognize genetic diseases in their children and to inform them that enzyme replacement therapies can help MPS I patients as well as thousands of other patients with rare diseases,” Dr. Barranger added. Recent federal legislation has recognized this emerging therapy and provided – through the Rare Disease Act of 2002 – new mechanisms to encourage study and treatment.

Marc Lukasiak or Melanie Finnigan, Children’s Hospital of Pittsburgh,

Bill Berry at Berry & Company PR at 212-253-8881,

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