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NCT Number: NCT01288027

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

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).

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Key information

Conditions

Pompe Disease (Late-onset) Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Carbohydrate Metabolism, Inborn Errors Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Glycogen Storage Disease Glycogen Storage Disease Type II Glycogen Storage Disease Type II (GSD II) Glycogenesis 2 Acid Maltase Deficiency Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases

Age range

18 year and older

Sex eligibility

All sexes

Study type

Interventional

Phase

Phase 4

Primary location

Mainz, Germany

Loading trial locations.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

alglucosidase alfa

Biological

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

Other names: GZ419829, Myozyme®, Lumizyme®

Primary outcomes

  1. Change From Baseline in Tissue Glycogen Content in Quadriceps Muscle Biopsy Samples at Week 26

    Time frame: Baseline, Week 26

    Tissue glycogen content was measured by quadriceps biopsies as 'percent area of tissue occupied by glycogen'.

Secondary outcomes

  1. Glycogen Distribution

    Time frame: Baseline, Week 26

  2. Muscle Fiber Morphology

    Time frame: Baseline, Week 26

  3. Lysosomal Inclusions

    Time frame: Baseline, Week 26

  4. Percent Change From Baseline in Muscle Involvement Using Mercuri Scoring at Week 26

    Time frame: Baseline, Week 26

    Muscle involvement was assessed by T1-weighted magnetic resonance imaging (MRI). T1-weighted MRI data was analyzed using the Mercuri scoring in both legs (Total score = 1-4; where 1=Normal appearance, 2=Mild involvement, 3=Moderate involvement, and 4=Severe involvement). For each participants, the average for each the upper (thigh) and lower leg was computed for Mercuri grading.

  5. Percent Change From Baseline in Degree of Fatty Infiltration Using 3-Point 3-Dimensional (3D) Dixon at Week 26

    Time frame: Baseline, Week 26

    Degree of Fatty Infiltration was assessed by 3-point 3D Dixon acquisition using skeletal muscle MRI in a subset of participants.

  6. Percent Change From Baseline in Disease Activity Using T2 Magnetic Resonance Imaging (MRI) at Week 26

    Time frame: Baseline, Week 26

    Disease activity (inflammation and/or water content within muscles) was quantitatively assessed by T2 MRI values in a subset of participants. A T2 MRI value of greater than (>) 39 millisecond (ms) was defined as abnormal. T2 estimation normally requires an additional acquisition for computing the B1 spatial deviation however, can still be estimated if this acquisition is missing.

Sponsors and collaborators

Lead sponsor

Genzyme, a Sanofi Company

Industry

Registry information

Official study title

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

Important dates

Study start
2011
Primary completion
2013
Study completion
2013
First posted
Feb 2, 2011
Registry last updated
Dec 19, 2014

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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