An Exploratory, Open-Label Study of the Safety and Efficacy of High Dose or High Dosing Frequency Myozyme® (alglucosidase alfa) Treatment in Patients with Pompe Disease Who Do Not Have an Optimal Response to the Standard Dose Regime

• Conditions: Pompe disease (acid alpha-glucosidase deficiency); MedDRA version: 17.1Level: LLTClassification code 10036143Term: Pompe's diseaseSystem Organ Class: 100000004850; Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]

• Registration Number: EUCTR2015-000582-31-Outside-EU/EEA
• Lead Sponsor: Genzyme Corporation Inc

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2015-04-15
• Last Update Posted: 10 July 2015

Recruitment & Eligibility

• Status: A
• Sex: All
• Target Recruitment: 14

Inclusion Criteria

(1) the patient or the patient’s legal guardian(s) must provide written informed
consent prior to any study-related procedures being performed; (2) the patient must have a clinical diagnosis of Pompe disease as defined by documented GAA deficiency (deficient endogenous GAA activity) in skin fibroblasts or blood; (3) the patient must have been compliant with the standard dosing regimen of Myozyme (20 mg/kg qow) for a minimum of 6 months prior to study entry; and (4) the patient must have clinical decline or sub-optimal improvement in at least one of the following parameters as compared to their condition prior to beginning Myozyme treatment:

Cardiac
Left Ventricular Mass (LVM) Z-score = 6 or LVM Index = 150 g/m2 after a minimum of 6 months of treatment with Myozyme, OR

Respiratory
New development of respiratory failure requiring the use of ventilatory assistance (invasive or noninvasive) after a minimum of 6 months of treatment with Myozyme. Ventilatory assistance must have been required for at least 4 weeks prior to study enrollment, OR

Motor Skills
For patients < or equal to 2 years of age at study entry, failure to acquire at least 2 new gross motor milestones after a minimum of 6 months of treatment with Myozyme, e.g.:
1. Turning head side to side (supine)
2. Grasping small objects with hands
3. Transferring objects from hand to hand
4. Holding head upright with body supported
5. Rolling (supine to prone or prone to supine)
6. Sitting (supported or unsupported)
7. Walking (with support, i.e., cruising, or independently)
8. Walking up stairs (with assistance or independently)

OR
For patients > 2 years of age at study entry, worsening of proximal upper extremity muscle weakness as determined by the Investigator through longitudinal assessments of manual muscle testing after a minimum of 6 months of treatment with Myozyme, OR

For patients > 2 years of age at study entry, worsening of proximal upper extremity muscle weakness as determined by the Investigator through loss of functional use of the upper extremities after a minimum of 6 months of treatment with Myozyme, OR

Progression to use of an assistive device for ambulation due to worsening of proximal lower extremity muscle weakness after a minimum of 6 months of treatment with Myozyme.

Are the trial subjects under 18? yes
Number of subjects for this age range: 13
F.1.2 Adults (18-64 years) no
F.1.2.1 Number of subjects for this age range
F.1.3 Elderly (>=65 years) no
F.1.3.1 Number of subjects for this age range

Exclusion Criteria

Patients will be excluded from this study if they meet any of the following exclusion criteria (1) any medical condition which, in the opinion of the Investigator, could interfere with treatment or evaluation of safety and/or efficacy of Myozyme; (2) the patient has major congenital abnormality; (3) the patient has used any investigational product (other than alglucosidase alfa in those regions where the product is not commercially available) within 30 days prior to study enrollment; or (4) the patient is pregnant or lactating.

Study & Design

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