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Pipeline

Pompe

Current Clinical Trials

Clinical Trial 1

A Phase 3 Switchover Study of the Efficacy and Safety of reveglucosidase alfa (also known as BMN 701, GILT-tagged Recombinant Human GAA) and Long- Term Study for Extended Treatment in rhGAA Exposed Subjects with Late-onset Pompe Disease

Study 701-301 is a single-arm, open-label, switchover study in patients with late-onset Pompe disease who have been receiving treatment with recombinant human acid alpha-glucosidase (rhGAA) for 48 weeks or longer. Ambulatory patients who have mild to moderate respiratory impairment will switch directly to receive reveglucosidase alfa (BMN 701) 20 mg/kg by IV infusion every other week. All participants will receive active drug. No dose of existing therapy will be missed - experimental drug is started immediately.

Inclusion Criteria:

  • Willing and able to provide written informed consent, after the nature of the study has been explained, and prior to any study-related procedures.
  • Diagnosed with late-onset Pompe disease based on 2 currently or previously documented GAA gene mutations, and endogenous GAA activity <75% of the lower limit of the normal adult range reported by the testing laboratory, as assessed by dried blood spot or whole blood assay.
  • Has received prior treatment with commercial rhGAA as defined by ALL of the following:
      a. has received treatment with commercial rhGAA for ≥ 48 weeks (but no more than 20% of the study population can have received treatment for ≥ 6 years).
      b. has received > 80% of all scheduled treatments in the prior 48 weeks and ≥ 4 out of the prior 6 scheduled treatments.
      c. has received and completed the last two infusions without a drug-related adverse event resulting in dose interruption.
      d. has received last treatment of commercial rhGAA ≥ 10 and ≤ 31 days prior to anticipated initiation of treatment with reveglucosidase alfa (BMN 701).
  • ≥ 18 years of age at the time of enrollment in the study.
  • Sexually active subjects must be willing to use two known effective methods of contraception while participating in the study and for at least 4 months following the last dose of reveglucosidase alfa (BMN 701).
  • Females of childbearing potential must have a negative pregnancy test at Screening and Baseline visits and be willing to have additional pregnancy tests during the study. Females considered not of childbearing potential include those who have been in menopause at least 2 years, or had tubal ligation at least 1 year prior to Screening, or who have had total hysterectomy.
  • Has ≥ 30% predicted upright FVC and < 80% predicted upright FVC.
  • Has ≤60% predicted MIP.
  • Must meet ambulation criteria, as measured on two separate days conducted during the Screening and/or Baseline visit (use of assistive devices such as walker, cane, or crutches, is permitted with consistent use throughout the study).
  • Is willing and able to comply with all study procedures.

Exclusion Criteria:

  • Use of any investigational product or investigational medical device within 4 weeks prior to Screening, or requirement for any investigational agent other than reveglucosidase alfa (BMN 701) prior to completion of at least the first 24 weeks of all scheduled study assessments.
  • Received any investigational medication for Pompe disease within the prior 12 months.
  • Has a diagnosis of diabetes and/or is currently being treated with or anticipated to require treatment with hypoglycemic agents during the course of the study.
  • Has been treated with any immunosuppressive medication other than glucocorticosteroids within the prior 12 months.
  • Requires noninvasive ventilatory support while awake and in the upright position.
  • Has previously been enrolled to this study.
  • Breastfeeding at Screening or planning to become pregnant (self or partner) at any time during the study.
  • Concurrent disease, medical condition, or extenuating circumstance that, in the opinion of the Investigator, might compromise subject safety, study treatment compliance and completion of the study, or the integrity of the data collected for the study.
  • Has known hypersensitivity to reveglucosidase alfa (BMN 701) or its excipients.

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

Clinical Trial 2

A Study of Respiratory Muscle Strength, including Effort- Independent Measures, in Subjects with Late- Onset Pompe Disease

Study 701-201 is a study in patients with late-onset Pompe disease (LOPD). The study will test respiratory muscle strength initially and again after 24 weeks in subjects treated or not treated with reveglucosidase alfa (BMN 701).

Inclusion Criteria:

  • Willing and able to provide written informed consent, after the nature of the study has been explained, and prior to any study-related procedures
  • Documented diagnosis with late-onset Pompe disease
  • At least 18 years of age at study entry
  • Willing and able to comply with all study procedures

Exclusion Criteria:

  • Requires ventilatory support while awake and in the upright position
  • Concurrent disease, medical condition, or extenuating circumstance that, in the opinion of the investigator, might compromise patient well-being, study completion, or data collection
  • Allergy to tools or procedures used for respiratory muscle testing

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

Clinical Trial 3

A Prospective, Noninterventional, Observational Study of Late-Onset Pompe Disease

This study will collect data to understand clinical progression of Pompe disease in terms of respiratory function, symptomology, genotype, biochemistry, endurance and selected subject-reported measures for 24 weeks followed by a 240 week additional observation period for up to 100 subjects. The trial is being conducted globally.

Key Study Facts

  • Enrolling late-onset Pompe patients who have been either treated or not treated with rhGAA
  • Must be 18 years of age or older
  • Must not require non-invasive ventilator support while awake and in the upright position
  • Must be willing to perform baseline efficacy assessments

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

Clinical Trial 4

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:

  • Enrollment complete.
  • 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