Trial of Myozyme in Late-Onset Pompe’s Disease Now Open

Genzyme (www.genzyme.com), a Cambridge, Mass., biotechnology company, has announced it’s now recruiting patients for a trial of its laboratory-developed enzyme, Myozyme, for the treatment of late-onset Pompe’s disease, also known as acid maltase deficiency.

Pompe’s disease is a metabolic muscle disorder that results from lack of the enzyme acid alpha-glucosidase (GAA), also known as acid maltase. The infantile-onset form of the disease has severe effects on the cardiac and respiratory muscles and usually leads to death early in childhood. The late-onset form, with symptom onset during childhood or later, varies in severity.

Genzyme, with supplemental support from MDA, has been testing Myozyme, a laboratory-engineered compound based on the natural GAA enzyme, to replace the missing enzyme in babies with infantile-onset Pompe’s.

In addition to supplemental funds for Genzyme’s Myozyme program, MDA has provided support to Yuan-Tsong Chen at Duke University, whose work in the 1990s laid the scientific foundation for Myozyme’s development.

According to information provided by Genzyme in April 2005, all babies treated with Myozyme experienced a reversal of the heart muscle damage associated with the disease, as well as showing gains in motor and cognitive development.

The company has also been studying late-onset Pompe’s disease and is now beginning to recruit participants for a study of Myozyme’s effects in that form of the disease.

“Conducting this study is consistent with our commitment to confirm the safety and efficacy of Myozyme for patients across the spectrum of Pompe’s disease,” said Richard A. Moscicki, senior vice president and chief medical officer for Genzyme. “Our approach has been to pursue approval for Myozyme as soon as possible, given the tremendous medical need. At the same time, we have worked to put in place a broad, supportive program that includes natural history studies, a disease registry, an expanded access program and additional clinical research.”

So far, sites in Beverly Hills, Calif., and St. Louis are open.

For more information, go to www.mda.org/research/ctrials.aspx and select “acid maltase deficiency” from the drop-down menu in the disease name box; or go to www.clinicaltrials.gov and enter “Pompe” in the search box.