Acid Maltase Deficiency (Pompe’s) Studies Progressing

Three studies in acid maltase deficiency (AMD, or Pompe’s disease) being conducted by Genzyme (www.genzyme.com) of Cambridge, Mass., with support from MDA, are progressing on schedule, the company says.

In AMD, the acid maltase (also known as acid alpha-glucosidase) enzyme is missing or deficient. Genzyme’s trade name for this enzyme, designed to replace missing acid maltase, is Myozyme.

Two studies to test a laboratory-engineered version of acid maltase in infantile-onset AMD have now reached full enrollment.

A study designed to observe the course of late-onset AMD that began in March is also full. Some of the participants in that study will later have the opportunity to enroll in a late-onset AMD treatment study in which they’ll receive the enzyme.

In addition to these studies, Genzyme is making Myozyme available to babies with infantile (before one year) onset of Pompe’s disease who meet several specific criteria. This is known as an “expanded access” program.

This program is described in full at www.clinicaltrials.gov, a Web site of the National Institutes of Health. See www.clinicaltrials.gov/ct/show/NCT00074919?order=1

Recruitment for an expanded access program for people with late-onset Pompe’s disease has been suspended after the number of potential participants exceeded Genzyme’s resources. The company hopes to resume enrolling patients at some point. Those already enrolled will continue to receive the investigational enzyme.

This program is described at www.clinicaltrials.gov/ct/show/NCT00074932?order=6 .

Genzyme encourages physicians who have patients of any age with AMD to participate in a company-sponsored disease registry. Information about this registry is at www.Pomperegistry.com.

Genzyme also operates a Pompe’s-specific Web site at www.pompe.com.