A Randomized, Double-Blind, Multicenter, Multinational, Placebo-Controlled Study of the Safety, Efficacy, and Pharmacokinetics of Myozyme, Recombinant Human Acid alpha-Glucosidase (rhGAA), Treatment in Patients with Late-Onset Pompe Disease - LOTS

• Conditions: Glycogen Storage Disease type II (Pompe's disease); MedDRA version: 9.1Level: LLTClassification code 10036143Term: Pompe's disease

• Registration Number: EUCTR2005-002759-42-DE
• Lead Sponsor: Genzyme Europe BV

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2009-07-24
• Last Update Posted: 19 March 2012

Recruitment & Eligibility

• Status: ot Recruiting
• Sex: All
• Target Recruitment: 90

Inclusion Criteria

1. The patient must provide signed, informed consent prior to performing any study-related procedures. Consent of a legally authorized guardian(s) is (are) required for patients under 18 years of age. If the patient is under 18 years of age and can understand the written informed consent, signature will be required from both the patient and the authorized guardian(s); 2. The patient must have a diagnosis of Pompe disease based on deficient endogenous GAA activity in cultured skin fibroblasts of = 40% of the normal mean of the testing laboratory and 2 confirmed GAA gene mutations; 3. The patient must be = 8 years of age at the time of enrollment; 4. The patient must have muscle weakness in the lower limbs based on unilateral QMT of the knee extensors defined as < 80% of the predicted value based on age, gender and body size (The National Isometric Muscle Strength [NIMS] Database Consortium, 1996, Arch Phys Med Rehabil); 5. The patient must be able to tolerate pulmonary function testing (PFT) and muscle testing in the supine position. (See exclusion criteria [1] and [2].); 6. The patient must be able to provide reproducible muscle and pulmonary function test results (bilateral
QMT measurements [% predicted] in knee extensors within 10% of the highest test value obtained from the same side of the body on 2 consecutive days and FVC measurements [in liters] within 10% of the highest test value obtained in the upright position on 2 consecutive days); 7. The patient must have an FVC of = 30% and < 80% predicted in the upright position (American Thoracic Society [ATS], 1991, Am Rev Respir Disease); 8. The patient must have an FEV1/FVC value of = 70% predicted in the upright position (ATS, 1991, Am Rev Respir Disease); 9. The patient must have a postural drop in FVC (liters) of at least 10% from the upright to the supine position [(FVC supine (L) – FVC upright (L))/FVC upright (L)] * 100%; 10. The patient must have testable muscle in bilateral knee flexors and knee extensors, and testable muscle in bilateral elbow flexors and elbow extensors. (Using QMT, a muscle will be defined as not testable” if the patient: 1) has a contracture > 90 degrees that would keep them from being able to assume the standard testing position, 2) is unable to follow directions, 3) has significant pain with resistance to the motion, or 4) is so weak that force cannot be generated against the testing strap); 11. The patient must be able to ambulate 40 meters (approximately 130 feet) in 6 minutes on each of 2 consecutive tests performed on the same day (use of assistive devices such as a walker, cane, or crutches, is permitted); 12. The patient (and patient’s legal guardian if patient <18 years of age) must have the ability to comply with the clinical protocol; 13. A female patient of childbearing potential must have a negative pregnancy test (urine beta-human chorionic gonadotropin [ß-hCG]) at Baseline. Note: All female patients of childbearing potential and sexually mature males must use a medically accepted method of contraception throughout the study.

Are the trial subjects under 18? yes
Number of subjects for this age range:
F.1.2 Adults (18-64 years) yes
F.1.2.1 Number of subjects for this age range
F.1.3 Elderly (>=65 years) yes
F.1.3.1 Number of subjects for this age range

Exclusion Criteria

1. The patient requires the use of invasive ventilatory support. (Invasive ventilation is defined as any form of ventilatory support applied with the use of an endotracheal tube.); 2. The patient requires the use of noninvasive ventilatory support while awake and in an upright position. (Noninvasive ventilation is defined as any form of ventilatory support applied without the use of an endotracheal tube. For example, patients receiving positive-pressure ventilation support through a facemask or nose piece are considered as ventilated through noninvasive methods.); 3. The patient has received enzyme replacement therapy with GAA from any source; 4. The patient has used an investigational product within 30 days prior to study enrollment, or is currently enrolled in another study which involves clinical evaluations, unless prior approval is given by Genzyme; 5. The patient has a medical condition, serious intercurrent illness, or other extenuating circumstance that, in the opinion of the Investigator, may significantly interfere with study compliance, including all prescribed evaluations and follow-up activities; 6. The patient has a major congenital anomaly.

Study & Design

• Study Type: Interventional clinical trial of medicinal product
• Study Design: Not specified