|E.1 Medical condition or disease under investigation
|Medical condition(s) being investigated
|Pompe disease (acid alpha-glucosidase deficiency)
|Medical condition in easily understood language
|People with Pompe disease have low levels of an enzyme called acid alfa-glucosidase. This enzyme helps the body control levels of glycogen (a type of carbohydrate).
|Diseases [C] - Nutritional and Metabolic Diseases [C18]
|E.1.2 Medical condition or disease under investigation
|System Organ Class
|10010331 - Congenital, familial and genetic disorders
|Condition being studied is a rare disease
|E.2 Objective of the trial
|Main objective of the trial
|The primary objective 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.
|Secondary objectives of the trial
|Secondary objectives of this study are:
•to characterize the disease burden in patients with late-onset Pompe disease and explore imaging, histologic, and functional assessments in these patients.
•to explore potential plasma or urine biomarkers relative to late-onset Pompe disease and patient’s response to treatment with alglucosidase alfa.
|Trial contains a sub-study
|Principal inclusion criteria
|A patient must meet all of the following criteria to be eligible for this study.
1.The patient is willing and able to provide signed informed consent.
2.The patient is ≥18 years of age with confirmed acid α-glucosidase [GAA] enzyme deficiency from any tissue source and/or confirmed GAA gene mutations and without known cardiac hypertrophy.
3.The patient is able to ambulate a distance without stopping and without an assistive device. Use of assistive device for community ambulation is appropriate.
4.The patient has a certain forced vital capacity (FVC) in upright position.
5.The patient, if female and of childbearing potential, must have a negative pregnancy test at baseline. Note: All female patients of childbearing potential and sexually mature males must agree to use a medically accepted method of contraception throughout the study.
|Principal exclusion criteria
|A patient who meets any of the following criteria will be excluded from this study.
1.The patient has had previous treatment with enzyme replacement therapy (ERT).
2.The patient is wheelchair dependent.
3.The patient requires invasive-ventilation (non-invasive ventilation is allowed).
4.The patient is participating in another clinical study using investigational treatment.
5.The patient cannot submit to MRI examination because of a formal contraindication such as a pacemaker, implanted ferromagnetic metals, etc.
6.The patient, in the opinion of the Investigator, is unable to adhere to the requirements of the study.
|E.5 End points
|Primary end point(s)
|The primary (pharmacodynamic) endpoint of this study is:
• Percent reduction from baseline in tissue glycogen content in muscle biopsy samples at Week 26.
|Timepoint(s) of evaluation of this end point
|Secondary end point(s)
|The secondary endpoints of this study are:
• Tissue examination (to include assessment of glycogen distribution, muscle fiber morphology, and lysosomal inclusions).
• Qualitative assessment of MR images for intact muscle and fatty replacement.
|Timepoint(s) of evaluation of this end point
|E.6 and E.7 Scope of the trial
|Scope of the trial
|Trial type and phase
|Human pharmacology (Phase I)
|First administration to humans
|Other trial type description
|Therapeutic exploratory (Phase II)
|Therapeutic confirmatory (Phase III)
|Therapeutic use (Phase IV)
|E.8 Design of the trial
| Comparator of controlled trial
|Other medicinal product(s)
The trial involves single site in the Member State concerned
| The trial involves multiple sites in the Member State concerned
|Number of sites anticipated in Member State concerned
|The trial involves multiple Member States
|Number of sites anticipated in the EEA
|E.8.6 Trial involving sites outside the EEA
|Trial being conducted both within and outside the EEA
|Trial being conducted completely outside of the EEA
|If E.8.6.1 or E.8.6.2 are Yes, specify the regions in which trial sites are planned
|Trial has a data monitoring committee
Definition of the end of the trial and justification where it is not the last
visit of the last subject undergoing the trial
|End of trial is defined as the date of last visit of the last patient in the study.
|E.8.9 Initial estimate of the duration of the trial
|In the Member State concerned years
|In the Member State concerned months
|In the Member State concerned days
|In all countries concerned by the trial years
|In all countries concerned by the trial months
|In all countries concerned by the trial days