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

NCT01230801 | Completed Phase 1 Results DMC FDA Drug

• 2 other identifiers: POM-0012010-023561-22
• Study Type: interventional
• Target: 22
• Locations: 5 countries
• Sites: 10

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.

Conditions

Pompe Disease

Outcome Measures

Primary Outcomes (1)

• Number of Participants With Adverse Events

  Number of Participants with Adverse Events as a Measure of Safety and Tolerability

  24 weeks

Secondary Outcomes (1)

• Change From Baseline in Six Minutes Walk Test

  Baseline up to 24 weeks

Other Outcomes (5)

• Change From Baseline in Percent Predicted Upright Forced Vital Capacity

  Baseline up to 24 week

• Change From Baseline in Percent Predicted Supine Forced Vital Capacity

  Baseline up to 24 weeks

• Change From Baseline in Percent Predicted Upright Maximum Expiratory Pressure

  Baseline up to 24 weeks

Study Arms (1)

BMN 701

EXPERIMENTAL

IV infusion

Biological: BMN 701

Interventions

BMN 701 BIOLOGICAL

GILT-tagged recombinant human GAA

BMN 701

Eligibility Criteria

• Age: 13 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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 4 months 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
• If subject was female, she was not lactating

You may not qualify if:

• 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.

Sponsors & Collaborators

• BioMarin Pharmaceutical: lead

Study Sites (10)

Univ of California San Diego School of Medicine

La Jolla, California, 92103-8765, United States

Location

University of Florida College of Medicine

Gainesville, Florida, 32610, United States

Location

University of Kansas Medical Center

Kansas City, Kansas, 66160, United States

Location

Royal Adelaide Hospital, SA Pathology

Adelaide, Adelaide, SA, 5006, Australia

Location

Hôpital de I´Archet- Centre Hospitalier Universitaire Nice

Nice, 06202, France

Location

Hôpital Pitié-Salpêtrière

Paris, 75651, France

Location

Zentrum für Kinder- und Jugenmedizin

Mainz, Rhineland-Palatinate, 55131, Germany

Location

Old Queen Elizabeth Hospital, Department of Medicine

Birmingham, B15 2TH, United Kingdom

Location

Royal Free Hospital

London, NW3 2QG, United Kingdom

Location

Salford Royal Hospital NHS Trust

Salford, M6 8HD, United Kingdom

Location

MeSH Terms

Conditions

Glycogen Storage Disease Type II

Condition Hierarchy (Ancestors)

Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Glycogen Storage Disease; Carbohydrate Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Results Point of Contact

• Title: Manager, Clinical Operations
• Organization: BioMarin Pharmaceutical Inc.

Slava.Titov@bmrn.com

415-455-7448

Study Officials

• Medical Monitor

  BioMarin Pharmaceutical

  STUDY DIRECTOR

Publication Agreements

• PI is Sponsor Employee: No
• Restriction Type: GT60
• Restrictive Agreement: Yes

Study Design

• Study Type: interventional
• Phase: phase 1
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 27, 2010
• First Posted: October 29, 2010
• Study Start: January 17, 2011
• Primary Completion: March 6, 2013
• Study Completion: March 6, 2013
• Last Updated: June 11, 2018
• Results First Posted: June 11, 2018

Record last verified: 2018-05

Locations

AU (1); US (3); GB (3); DE (1); FR (2)