Safety/Tolerability/Pharmacokinetic (PK)/Pharmacodynamics (PD) Study of BMN701 in Patients With Late-Onset Pompe Disease

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01230801
Recruitment Status : Completed
First Posted : October 29, 2010
Last Update Posted : May 19, 2015
Information provided by (Responsible Party):
BioMarin Pharmaceutical

Brief Summary:
A Phase 1/2, open-label, multicenter, multiple dose escalation study of BMN 701 administered by intravenous infusion every 2 weeks over a 24-week treatment period to patients with late-onset Pompe disease.

Condition or disease Intervention/treatment Phase
Pompe Disease Biological: BMN 701 Phase 1 Phase 2

Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 30 participants
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: 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
Study Start Date : December 2010
Actual Primary Completion Date : March 2013
Actual Study Completion Date : February 2014

Arm Intervention/treatment
Experimental: BMN 701
IV infusion
Biological: BMN 701
GILT-tagged recombinant human GAA

Primary Outcome Measures :
  1. Number of Participants with Adverse Events as a Measure of Safety and Tolerability [ Time Frame: 24 weeks ]
  2. Anti-BMN 701 antibody titer [ Time Frame: 24 weeks ]
  3. Anti-Insulin-like-growth-factor antibody titer [ Time Frame: 24 weeks ]

Secondary Outcome Measures :
  1. Pharmacokinetic profile of BMN 701 [ Time Frame: 24 weeks ]
  2. Mean distance walked as measured by the Six-minute Walk Test (6MWT) [ Time Frame: 24 weeks ]

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Ages Eligible for Study:   13 Years and older   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion criteria:

  • Patient or patient's parent or legal guardian has provided written informed consent after the nature of the study has been explained, and prior to any study-related procedures;
  • Patient has been diagnosed with Pompe Disease prior to or during the screening period based on 2 GAA gene mutations and either: endogenous GAA activity <75% of the lower limit of the normal adult range reported by the testing laboratory, as assessed in cultured skin fibroblasts -or- 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;
  • Patient is male or female and 13 years of age or older at the time of enrollment in the study;
  • Sexually active patients must be willing to use an acceptable method of contraception while participating in the study and for at least 30 days following the last dose of BMN 701;
  • If patient is female and not considered to be of childbearing potential, she is at least 2 years post-menopausal or had tubal ligation at least 1 year prior to screening, or who have had total hysterectomy;
  • If patient is female and of childbearing potential, she has negative urine pregnancy tests during the Screening Period and at the Baseline visit and be willing to have additional pregnancy tests during the study;
  • Patient has ≥30% predicted upright FVC and either <80% predicted upright FVC, or >10% reduction in supine FVC compared to upright FVC during the Screening Period;
  • Patient is naïve to Enzyme Replacement Therapy (ERT) with rhGAA;
  • Patient must be able to ambulate at least 40 meters (131.2 feet) on the 6MWT conducted at the Screening visit (use of assistive devices such as walker, cane, or crutches, is permitted); and
  • Patient has the ability to comply with the protocol requirements, in the opinion of the Investigator.

Exclusion criteria:

  • Patient has a history of diabetes or other disease known to cause hypoglycemia and is currently receiving, or might anticipate receiving, hypoglycemic agents during the course of the study;
  • Patient has been on any immunosuppressive medication other than glucocorticosteroids within 1 year prior to enrollment into this study;
  • Patient requires invasive ventilatory assistance at the time of enrollment into the study;
  • Patient has received any investigational medication within 30 days prior to the first dose of study drug or is scheduled to receive any investigational drug other than BMN 701 during the course of the study;
  • Patient has previously been admitted to the study;
  • Patient is breastfeeding at screening or planning to become pregnant (self or partner) at any time during the study;
  • Patient has a medical condition or extenuating circumstance that, in the opinion of the Investigator, might compromise the patient's ability to comply with the protocol requirements or compromise the patient's well being or safety;
  • Patient has any condition that, in the view of the Investigator, places the patient at high risk of poor treatment compliance or of not completing the study.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01230801

United States, California
Univ of California San Diego School of Medicine
La Jolla, California, United States, 92103-8765
UCLA Neurological Services
Los Angles, California, United States, 90095
United States, Florida
University of Florida College of Medicine
Gainesville, Florida, United States, 32610
United States, Kansas
University of Kansas Medical Center
Kansas City, Kansas, United States, 66160
Australia, South Australia
Royal Adelaide Hospital
Adelaide, South Australia, Australia, 5000
Hôpital de I´Archet- Centre Hospitalier Universitaire Nice
Nice, France, 06202
Hôpital Pitié-Salpêtrière
Paris, France, 75013
Zentrum für Kinder- und Jugenmedizin
Mainz, Rheinland-pfalz, Germany, 55131
United Kingdom
University Hospitals Birmingham NHS Foundation Trust
Birmingham, United Kingdom, B15 2TH
Royal Free Hospital
London, United Kingdom, NW3 2QG
Salford Royal Hospital NHS Trust
Salford, United Kingdom, M6 8HD
Sponsors and Collaborators
BioMarin Pharmaceutical
Study Director: William Lang, MD BioMarin Pharmaceutical

Responsible Party: BioMarin Pharmaceutical Identifier: NCT01230801     History of Changes
Other Study ID Numbers: POM-001
2010-023561-22 ( EudraCT Number )
First Posted: October 29, 2010    Key Record Dates
Last Update Posted: May 19, 2015
Last Verified: May 2015

Additional relevant MeSH terms:
Brain Diseases, Metabolic, Inborn
Glycogen Storage Disease Type II
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Glycogen Storage Disease
Carbohydrate Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases