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

NCT ID: NCT01288027

Last Updated: 2014-12-19

Basic Information

• Recruitment Status: COMPLETED
• Clinical Phase: PHASE4
• Total Enrollment: 16 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2011-06-30
• Study Completion Date: 2013-12-31

Brief Summary

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).

Conditions

Pompe Disease (Late-Onset); Glycogen Storage Disease Type II (GSD II); Glycogenesis 2 Acid Maltase Deficiency

Study Design

• Allocation Method: NON_RANDOMIZED
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: TREATMENT
• Blinding Strategy: NONE

Study Groups

Alglucosidase Alfa

Group Type: EXPERIMENTAL

Alglucosidase Alfa

Intervention Type: BIOLOGICAL

Alglucosidase alfa intravenous infusion 20 milligram per kilogram (mg/kg) every other week for 24 weeks.

Interventions

Alglucosidase Alfa

Alglucosidase alfa intravenous infusion 20 milligram per kilogram (mg/kg) every other week for 24 weeks.

Intervention Type: BIOLOGICAL

Other Intervention Names

GZ419829; Myozyme®; Lumizyme®

Eligibility Criteria

Inclusion Criteria

• 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

Exclusion Criteria

• 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

• Minimum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Genzyme, a Sanofi Company

INDUSTRY

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Medical Monitor

Role: STUDY_DIRECTOR

Genzyme, a Sanofi Company

Locations

Orange, California, United States

Gainesville, Florida, United States

Kansas City, Kansas, United States

St Louis, Missouri, United States

New York, New York, United States

Durham, North Carolina, United States

Colombus, Ohio, United States

Heshey, Pennsylvania, United States

Fairfax, Virginia, United States

Mainz, , Germany

München, , Germany

Münster, , Germany

Rotterdam, , Netherlands

Newcastle upon Tyne, , United Kingdom

Salford, , United Kingdom

Countries

United States; Germany; Netherlands; United Kingdom

References

van der Ploeg A, Carlier PG, Carlier RY, Kissel JT, Schoser B, Wenninger S, Pestronk A, Barohn RJ, Dimachkie MM, Goker-Alpan O, Mozaffar T, Pena LD, Simmons Z, Straub V, Guglieri M, Young P, Boentert M, Baudin PY, Wens S, Shafi R, Bjartmar C, Thurberg BL. Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study. Mol Genet Metab. 2016 Sep;119(1-2):115-23. doi: 10.1016/j.ymgme.2016.05.013. Epub 2016 May 19.

Reference Type: DERIVED

PMID: 27473031 (View on PubMed)

Other Identifiers

2010-020611-36

Identifier Type: EUDRACT_NUMBER

Identifier Source: secondary_id

MSC12823

Identifier Type: OTHER

Identifier Source: secondary_id

AGLU07310

Identifier Type: -

Identifier Source: org_study_id