BioMarin Testing Drug in Late-Onset Pompe Disease

Clinical trial testing experimental enzyme replacement drug in people with Pompe disease who are at least 13 years old

by Margaret Wahl on November 8, 2011 - 10:08am

Update (March 27, 2013): BioMarin announced March 19, 2013, that it plans to move to a phase 2/3 trial of this drug for late-onset Pompe diseae, pending a review by regulatory authorities. See Pompe disease: Late-onset treatment moves forward.

BioMarin Pharmaceutical is seeking participants for a clinical trial testing the safety and tolerability of its experimental drug BMN701 in adolescents and adults with late-onset Pompe disease (acid maltase deficiency). The trial is being conducted in California, Kansas and Florida.

BMN701 is an enzyme replacement therapy, or ERT. The laboratory-engineered compound is designed to replace the enzyme acid maltase — also known as acid alpha glucosidase or GAA — which is deficient in Pompe disease.

BMN701 differs from existing Pompe drugs

Two existing ERT drugs — Myozyme and Lumizyme — are on the market to treat Pompe disease. Both are made by Genzyme, and MDA-supported basic research played a role in their development.

BMN701 is formulated differently from Myozyme and Lumizyme. According to BioMarin, its formulation is based on glycosylation-independent lysosomal targeting, or GILT, technology. The company says BMN701 is designed to deliver more GAA to cellular structures called lysosomes than existing medications do. Targeting to lysosomes is necessary for GAA to correct the metabolic defect caused by a deficiency of this enzyme.

Participants must meet study criteria

This phase 1-2 trial is open-label, meaning there is no placebo group. All participants will receive BMN701 by intravenous infusion every two weeks over a 24-week (approximately six-month) period.

Prospective participants in the BMN701 study must:

  • be at least 13 years old at the time of enrollment;
  • have a diagnosis of Pompe disease prior to or during the screening period, based on having two mutations in the GAA (acid maltase) gene;
  • have not previously received enzyme replacement therapy for Pompe disease;
  • be able to walk at least 40 meters (131.2 feet), with or without an assistive device;
  • have a forced vital capacity (FVC) respiratory measurement of at least 40 percent but less than 80 percent of normal; and
  • meet other study criteria.

Study sites are in Los Angeles and San Diego; Gainesville, Fla.; and Kansas City, Kan. To participate in the study, contact Sean McCarthy at BioMarin in Novato, Calif., at

More details on the BMN701 study

More on Pompe disease and its treatment

About Clinical Trials

About Clinical Trials

A clinical trial is a test, in humans, of an experimental treatment. Although it's possible that benefit may be derived from participating in a clinical trial, it's also possible that no benefit, or even harm, may occur.

MDA has no ability to influence who is chosen to participate in a clinical trial.

To learn more, see Understanding Clinical Trials and Being a Co-Adventurer, which is about neuromuscular disease clinical trials. To see a continuously updated database of clinical trials, go to

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