Clinical trial NCT01230801: Safety/Tolerability/Pharmacokinetic (PK)/Pharmacodynamics (PD) Study of BMN701 in Patients With Late-Onset Pompe Disease
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 type: INTERVENTIONAL
Overall status: COMPLETED
Phase: PHASE1
PHASE2
Conditions: Pompe Disease
Lead sponsor: BioMarin Pharmaceutical
Sponsor class: INDUSTRY
First posted: 2010-10-29
Enrollment: 22
Sex: ALL
Minimum age (years): 13
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: TREATMENT

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.


Eligibility criteria: Inclusion criteria:

* 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

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.

Primary outcomes:
measure: Number of Participants With Adverse Events
timeFrame: 24 weeks
Secondary outcomes:
measure: Change From Baseline in Six Minutes Walk Test
timeFrame: Baseline up to 24 weeks
Other outcomes:
measure: Change From Baseline in Percent Predicted Upright Forced Vital Capacity
timeFrame: Baseline up to 24 week
measure: Change From Baseline in Percent Predicted Supine Forced Vital Capacity
timeFrame: Baseline up to 24 weeks
measure: Change From Baseline in Percent Predicted Upright Maximum Expiratory Pressure
timeFrame: Baseline up to 24 weeks
measure: Change From Baseline in Percent Predicted Upright Maximum Inspiratory Pressure
timeFrame: Baseline up to 24 weeks
measure: Change From Baseline in Upright Maximum Ventilatory Volume
timeFrame: Baseline up to 24 weeks
Locations:
city: La Jolla
country: United States
facility: Univ of California San Diego School of Medicine
state: California
city: Gainesville
country: United States
facility: University of Florida College of Medicine
state: Florida
city: Kansas City
country: United States
facility: University of Kansas Medical Center
state: Kansas
city: Adelaide
country: Australia
facility: Royal Adelaide Hospital, SA Pathology
state: Adelaide, SA
city: Nice
country: France
facility: Hôpital de I´Archet- Centre Hospitalier Universitaire Nice
city: Paris Cedex 13
country: France
facility: Hôpital Pitié-Salpêtrière
city: Mainz
country: Germany
facility: Zentrum für Kinder- und Jugenmedizin
state: Rheinland-pfalz
city: Birmingham
country: United Kingdom
facility: Old Queen Elizabeth Hospital, Department of Medicine
city: London
country: United Kingdom
facility: Royal Free Hospital
city: Salford
country: United Kingdom
facility: Salford Royal Hospital NHS Trust
Study officials:
affiliation: BioMarin Pharmaceutical
name: Medical Monitor
role: STUDY_DIRECTOR
References: