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: 100000004850; Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]

• Registration Number: EUCTR2010-020611-36-DE
• Lead Sponsor: Genzyme Europe B.V.

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2011-06-30
• Last Update Posted: 27 January 2014

Recruitment & Eligibility

• Status: ot Recruiting
• Sex: All
• Target Recruitment: 16

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