Pompe Disease (Acid Maltase Deficiency)

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). 

MDA grantee James Ervasti and colleagues at the University of Minnesota-Twin Cities in Minneapolis have found that a protein known as utrophin, injected into mice lacking the dystrophin protein and showing a disease resembling Duchenne muscular dystrophy (DMD), conferred significant benefits.

The experiments Ervasti and colleagues describe online May 26, 2009, in PLoS Medicine, are the first to show benefit from the direct injection into DMD mice of utrophin protein, rather than utrophin genes or gene modifiers.

TUCSON, Ariz., April 28, 2006 — The Food and Drug Administration today announced approval of Myozyme, a new treatment for patients with Pompe disease, a rare genetic disorder also known as acid maltase enzyme deficiency.