Exploratory Muscle Biopsy Assessment Study in Patients With Late-Onset Pompe Disease Treated With Alglucosidase Alfa



Status:Completed
Conditions:Diabetes
Therapuetic Areas:Endocrinology
Healthy:No
Age Range:18 - Any
Updated:3/30/2013
Start Date:June 2011
End Date:October 2013
Contact:Medical Information
Email:medinfo@genzyme.com
Phone:800-745-4447

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A Phase 4 Prospective Exploratory Muscle Biopsy, Biomarker, and Imaging Assessment Study in Patients With Late-Onset Pompe Disease Treated With Alglucosidase Alfa


This is an open-label, multicenter study of patients with late-onset Pompe disease naïve to
treatment with enzyme replacement therapy (ERT). The primary purpose of this study is to
evaluate glycogen clearance in muscle tissue samples collected pre and post alglucosidase
alfa treatment in patients with Late-Onset Pompe disease.


Inclusion Criteria:

- The patient has confirmed acid α-glucosidase [GAA] enzyme deficiency from any tissue
source and/or confirmed GAA gene mutations and without known cardiac hypertrophy.

- The patient is able to ambulate a distance without stopping and without an assistive
device. Use of assistive device for community ambulation is appropriate.

- The patient has a certain forced vital capacity (FVC) in upright position.

- The patient, if female and of childbearing potential, must have a negative pregnancy
test (urine beta-human chorionic gonadotropin [β-hCG]) at baseline.

Exclusion Criteria:

- The patient has had previous treatment with enzyme replacement therapy (ERT).

- The patient is wheelchair dependent.

- The patient requires invasive-ventilation (non-invasive ventilation is allowed).

- The patient is participating in another clinical study using investigational
treatment.

- The patient cannot submit to magnetic resonance imaging (MRI) examination because of
a formal contraindication such as a pacemaker, implanted ferromagnetic metals, etc.

- The patient, in the opinion of the Investigator, is unable to adhere to the
requirements of the study.
We found this trial at
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