A Study of the Safety and Tolerability of BMN 701 in Patients with Late-onset Pompe Disease

Recruitment & Eligibility

Status: ot Recruiting

Sex: All

Target Recruitment: 22

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 is naïve to Enzyme Replacement Therapy (ERT) with rhGAA;

Patient has the ability to comply with the protocol requirements, in the opinion of the Investigator.

Are the trial subjects under 18? yes
Number of subjects for this age range: 2
F.1.2 Adults (18-64 years) yes
F.1.2.1 Number of subjects for this age range 26
F.1.3 Elderly (>=65 years) yes
F.1.3.1 Number of subjects for this age range 2

Exclusion Criteria

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;

Study & Design

Study Type: Interventional clinical trial of medicinal product

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method

Secondary Outcome Measures

Name	Time	Method

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