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

• Register: ClinicalTrials.gov
• Last refreshed on: 19 October 2017
• Main ID: NCT01288027
• Date of registration: 27/01/2011
• Prospective Registration: Yes
• Primary sponsor: Genzyme, a Sanofi Company
• Public title: Exploratory Muscle Biopsy Assessment Study in Patients With Late-Onset Pompe Disease Treated With Alglucosidase Alfa
• Scientific title: A Phase 4 Prospective Exploratory Muscle Biopsy, Biomarker, and Imaging Assessment Study in Patients With Late-Onset Pompe Disease Treated With Alglucosidase Alfa
• Date of first enrolment: June 2011
• Target sample size: 16
• Recruitment status: Completed
• URL: https://clinicaltrials.gov/show/NCT01288027
• Study type: Interventional
• Phase: Phase 4

Countries of recruitment

Germany, Netherlands, United Kingdom, United States

Contacts

• Name: Medical Monitor
• Affiliation: Genzyme, a Sanofi Company

Key inclusion & exclusion 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



Age minimum: 18 Years
Age maximum: N/A
Gender: All

Health Condition(s) or Problem(s) studied

Glycogen Storage Disease Type II (GSD II)

Glycogenesis 2 Acid Maltase Deficiency

Pompe Disease (Late-Onset)

Intervention(s)

Biological: Alglucosidase Alfa

Primary Outcome(s)

Change From Baseline in Tissue Glycogen Content in Quadriceps Muscle Biopsy Samples at Week 26 [Time Frame: Baseline, Week 26]

Secondary Outcome(s)

Percent Change From Baseline in Degree of Fatty Infiltration Using 3-Point 3-Dimensional (3D) Dixon at Week 26 [Time Frame: Baseline, Week 26]

Percent Change From Baseline in Muscle Involvement Using Mercuri Scoring at Week 26 [Time Frame: Baseline, Week 26]

Lysosomal Inclusions [Time Frame: Baseline, Week 26]

Glycogen Distribution [Time Frame: Baseline, Week 26]

Muscle Fiber Morphology [Time Frame: Baseline, Week 26]

Percent Change From Baseline in Disease Activity Using T2 Magnetic Resonance Imaging (MRI) at Week 26 [Time Frame: Baseline, Week 26]

Secondary ID(s)

AGLU07310

2010-020611-36

MSC12823

Source(s) of Monetary Support

Please refer to primary and secondary sponsors

Results

• Results available: Yes
• Date Posted: 02/12/2014
• URL: https://clinicaltrials.gov/ct2/show/results/NCT01288027