DURHAM, N.C. -- The U.S. Food and Drug Administration has approved Duke University's application for Orphan Drug Designation for a new therapy for Pompe disease, an inherited and usually lethal glycogen storage disease that often afflicts children, Duke officials announced.
This designation makes Duke eligible for FDA grants to support a clinical trial of the therapy. Duke University Medical Center researchers hope to begin that trial in 1998.
Pompe disease is an incapacitating condition caused by an inherited deficiency of the enzyme acid alpha glucosidase. Acid alpha glucosidase normally degrades cellular stores of glycogen into glucose, a primary energy source. Patients suffering from Pompe disease lack sufficient enzyme for that chemical conversion. As a result, glycogen accumulates and destroys skeletal, heart, and lung muscles.
Pompe disease is rare, affecting approximately one child out of every 100,000. If symptoms appear during infancy, death usually occurs before the age of 2. The disease is usually less severe when symptoms first appear later in childhood, but life expectancy extends only into the second or third decade in such cases. Adults can be affected by a milder form of the disease but are still incapacitated due to respiratory insufficiency.
Initially, the therapy developed at Duke will be tested in infants with the most severe symptoms and for whom the disease is fatal. The Duke clinical trial will test a genetically engineered form of the enzyme, expressed in a cell line developed in the laboratory of Dr. Y.T. Chen, chief of the Division of Medical Genetics in the department of pediatrics.
Initially, the drug will be tested in a small number of Pompe disease infants to evaluate the safety and efficacy of the recombinant enzyme treatment. Enrollment will be based on strict FDA-approved clinical criteria.