FDA Approves Drug Therapy for Enzyme Disorder

The Food and Drug Administration said Monday it has approved the first drug treatment for Gaucher’s disease, a rare metabolic disorder that causes anemia and enlargement of the liver and spleen.

The disease afflicts an estimated 10,000 to 15,000 people in the United States, of whom about 2,000 to 3,000 need treatment. Symptoms include fatigue, a grossly distended abdomen, fragile and painful bones and vulnerability to bruising and bleeding.

The drug, alglucerase, replaces an enzyme that is missing in those who have the hereditary disorder, the FDA said.

“After decades of research, we now have a drug therapy that reverses all major symptoms of this debilitating, inherited disease,” said Dr. Roscoe Brady, a scientist at the National Institute of Neurological Disorders and Stroke. Brady conducted initial research with the treatment.

The FDA made the drug available early to desperately ill patients. It also designated it an “orphan” drug, a status that gives pharmaceutical companies incentive to develop products needed by a small group of patients.

The FDA approved use of alglucerase for moderate to severe cases of Type I Gaucher’s disease, the most common form. Previously, severe cases of Type I Gaucher’s were treated by removal of the spleen and bone marrow transplants.