A study to evaluate muscle tissue, blood, urine and imaging assessments in patients with Late-Onset Pompe Disease treated with alglucosidase alfa.

Conditions: Pompe disease (acid alpha-glucosidase deficiency)
MedDRA version: 14.1Level: LLTClassification code 10036143Term: Pompe's diseaseSystem Organ Class: 10010331 - Congenital, familial and genetic disorders
Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]

Registration Number: EUCTR2010-020611-36-GB

Lead Sponsor: Genzyme Europe B.V.

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: ot Recruiting

Sex: All

Target Recruitment: 15

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 a-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.
Are the trial subjects under 18? no
Number of subjects for this age range: 0
F.1.2 Adults (18-64 years) yes
F.1.2.1 Number of subjects for this age range 14
F.1.3 Elderly (>=65 years) yes
F.1.3.1 Number of subjects for this age range 1

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.

Study & Design

Study Type: Interventional clinical trial of medicinal product

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Main Objective: 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 Objective: Secondary objectives of this study are: <br>•to characterize the disease burden in patients with late-onset Pompe disease and explore imaging, histologic, and functional assessments in these patients.<br>•to explore potential plasma or urine biomarkers relative to late-onset Pompe disease and patient’s response to treatment with alglucosidase alfa.;Primary end point(s): The primary (pharmacodynamic) endpoint of this study is:<br>• Percent reduction from baseline in tissue glycogen content in muscle biopsy samples at Week 26.;Timepoint(s) of evaluation of this end point: Baseline, Week 26

Secondary Outcome Measures

Name	Time	Method
Secondary end point(s): The secondary endpoints of this study are:<br>• Tissue examination (to include assessment of glycogen distribution, muscle fiber morphology, and lysosomal inclusions).<br>• Qualitative assessment of MR images for intact muscle and fatty replacement.;Timepoint(s) of evaluation of this end point: Baseline, Week 26