A PHASE 4 PROSPECTIVE EXPLORATORY MUSCLE BIOPSY, BIOMARKER, AND IMAGING ASSESSMENT STUDY IN PATIENTS WITH LATE-ONSET POMPE DISEASE TREATED WITH ALGLUCOSIDASE ALFA.

Phase 4

Completed

Conditions: acid alfa glucosidase deficiency
Pompe disease
10021605

Registration Number: NL-OMON39502

Lead Sponsor: Genzyme

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Completed

Sex: Not specified

Target Recruitment: 3

Inclusion Criteria

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 certain 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.

Exclusion Criteria

1.
The patient has had previous treatment with Enzyme Replacement Therapy.
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

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>The primary endpoint of this study is: Percent reduction from baseline in<br /><br>tissue glycogen content in muscle biopsy samples at Week 26.</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>The secondary endpoints of this study are:<br /><br>- Tissue examination (to include assessment of glycogen distribution, muscle<br /><br>fiber morphology, and lysosomal inclusions).<br /><br>- Qualitative assessment of MR images for intact muscle and fatty replacement.</p><br>