Acid Maltase Deficiency (AMD)

A study to determine the early features of late-onset Pompe disease (acid maltase deficiency) is seeking 250 adults who have a clinical diagnosis of unclassified limb-girdle muscular dystrophy (LGMD), an uncertain diagnosis of other forms of muscular dystrophy (MD),or an unclassified myopathy(muscle disease)who do not carry any biochemical, metabolic, enzymatic, serologic (blood), molecular or pathologic diagnostic marker that confirms their diagnosis.

 Monique Griffin of Orlando, Fla., was one of the first in the nation to receive the commercially available treatment Lumizyme for acid maltase deficiency (AMD, or Pompe disease).

The U.S. Food and Drug Administration (FDA) has approved U.S. sales of the enzyme-replacement drug Lumizyme, the first treatment in the U.S. specifically for late-onset Pompe disease.

Biotechnology company Genzyme, of Cambridge, Mass., expects the U.S. Food and Drug Administration (FDA) to rule by June 17, 2010, on Genzyme's application to market its laboratory-developed enzyme Lumizyme (alglucosidase alfa) in the United States.

Lumizyme and its near-twin, Myozyme, replace the acid maltase enzyme deficient in people with Pompe disease (acid alpha-glucosidase deficiency or acid maltase deficiency).