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

Completed · Phase 4

Conditions studied: Pompe Disease (Late-Onset), Glycogen Storage Disease Type II (GSD II), Glycogenesis 2 Acid Maltase Deficiency

In brief

This is an open-label, multicenter study of participants with late-onset Pompe disease naive to treatment with enzyme replacement therapy (ERT). The primary objective of this study is to evaluate glycogen clearance in muscle tissue samples collected pre and post alglucosidase alfa treatment in participants with Late-Onset Pompe disease. The secondary objectives are to characterize the disease burden in participants with late-onset Pompe disease and explore imaging, histologic, and functional assessments in these participants and to explore potential plasma or urine biomarkers relative to late-onset Pompe disease and participant's response to treatment with alglucosidase alfa (Myozyme®/Lumizyme®/GZ419829).

Key facts

Study ID

NCT01288027

Run by

Genzyme, a Sanofi Company

People needed

16

Starts

2011-06-01

Expected to finish

2013-12-01

Last updated by the study team

2014-12-19

Who can join

Age: 18 and older. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• The participant has confirmed acid alpha-glucosidase (GAA) enzyme deficiency from any tissue source and/or confirmed GAA gene mutations and without known cardiac hypertrophy
• The participant is able to ambulate a distance without stopping and without an assistive device. Use of assistive device for community ambulation is appropriate
• The participant has a certain forced vital capacity (FVC) in upright position
• The participant, if female and of childbearing potential, must have a negative pregnancy test (urine beta-human chorionic gonadotropin [beta-hCG]) at baseline

You may not qualify if…

• The participant has had previous treatment with ERT
• The participant is wheelchair dependent
• The participant requires invasive-ventilation (non-invasive ventilation is allowed)
• The participant is participating in another clinical study using investigational treatment
• The participant cannot submit to magnetic resonance imaging (MRI) examination because of a formal contraindication such as a pacemaker, implanted ferromagnetic metals, etc
• The participant, in the opinion of the Investigator, is unable to adhere to the requirements of the study

Where it is running

• Study site — Orange, California, United States
• Study site — Gainesville, Florida, United States
• Study site — Kansas City, Kansas, United States
• Study site — St Louis, Missouri, United States
• Study site — New York, New York, United States
• Study site — Durham, North Carolina, United States
• Study site — Colombus, Ohio, United States
• Study site — Heshey, Pennsylvania, United States
• Study site — Fairfax, Virginia, United States
• Study site — Mainz, Germany
• Study site — München, Germany
• Study site — Münster, Germany
• Study site — Rotterdam, Netherlands
• Study site — Newcastle upon Tyne, United Kingdom
• Study site — Salford, United Kingdom

Full record on ClinicalTrials.gov

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