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Pipeline

Pompe

Current Clinical Trials

Clinical Trial 1

A Phase 3 Switchover Study of the Efficacy and Safety of BMN 701 (GILT-tagged Recombinant Human GAA) in rhGAA Exposed Subjects With Late-onset Pompe Disease

This study incorporates a switchover design to determine if patients currently on rhGAA can realize further improvement in measures of respiratory muscle strength and endurance, and to better understand the safety effects when switching therapies from rhGAA to BMN 701. Ambulatory patients with mild to moderate respiratory measureable impairment will be enrolled in the study to specifically evaluate potential improvement in MIP, FVC and 6MWT.

Key Study Facts:

  • Enrolling late onset Pompe patients 18 years and older who have received prior treatment with commercial rhGAA for at least 48 weeks and out of those has received greater than 80% (ie 19 infusions), at least 4 out of the prior 6 scheduled treatments, and has not had a drug-related adverse event resulting in dose interruption in the last 2 infusions.
  • Must meet the 6 minute walk test and pulmonary function testing criteria.
  • Must not have diabetes or other disease known to cause hypoglycemia
  • Participants will receive every other weekly dosing of study drug via infusion for 24 weeks, and the participants may have the option to take part in an extension study
  • Most visits will consist of one full day, and three visits will require between two to three days in a row.

For additional information about the study, including details about participating centers, please click here

Clinical Trial 2

A Long-Term Study for Extended BMN 701 Treatment of Patients With Pompe Disease Who Have Completed BMN 701 Studies

This study will evaluate the long term safety and efficacy of BMN 701 administered by IV infusion every 2 weeks in patients with Pompe.

Key Study Facts:

  • Enrolling Pompe patients who have participated in a previous BMRN sponsored clinical study of BMN 701.

For additional information about the study, including details about participating centers, please click here

What is Pompe Disease?

Pompe disease, an inherited lysosomal storage disorder, is a progressive disease of the heart muscle, diaphragm and body muscles. A lysosomal storage disorder is caused when one part of your body’s basic building blocks, the cell, doesn’t function correctly. In Pompe disease, this is caused by a deficiency in the lysosomal enzyme acid alpha glucosidase which leads to the buildup of glycogen in muscle cell lysosomes. Pompe disease occurs in about one in 40,000 people. There are two main forms of Pompe disease: adult onset which occurs in about one in 57,000 births and infantile onset which occurs in about one in 140,000 births. It is inherited in an autosomal recessive manner, affects males and females equally, and in most cases, both parents of an affected child are asymptomatic carriers of the disease.

Program Overview

BMN 701 is designed to replace the enzyme (acid alpha glucosidase) that prevents the glycogen build up that causes Pompe disease. BMN 701 has a small protein attached to it (IGF-2) which allows it to attach to the surface of the muscle cell more tightly than the normal enzyme (acid alpha glucosidase). Animal research has shown that BMN 701 is able to get into the cell and clear much of the excess glycogen buildup that creates the problems in Pompe disease.

BMN 701 at a Glance

  • BioMarin started clinical studies for BMN 701 in humans in 2010 to evaluate safety and efficacy
  • BMN 701 was assigned the Orphan Drug designation in the United States and CHMP EU Orphan Designation in the European Union

Completed Clinical Studies

A Phase 1/2 Open-label Study of the Safety, Tolerability, Pharmacokinetics, Pharmacodynamic and Preliminary Efficacy of BMN 701 (GILT-tagged Recombinant Human GAA) in Patients With Late-onset Pompe Disease please click here