A Study of rhGAA in Patients With Late-Onset Pompe Disease

• Register: ClinicalTrials.gov
• Last refreshed on: 19 February 2015
• Main ID: NCT00250939
• Date of registration: 08/11/2005
• Prospective Registration: No
• Primary sponsor: Genzyme, a Sanofi Company
• Public title: A Study of rhGAA in Patients With Late-Onset Pompe Disease
• Scientific title: Single-center, Open-label Study of Safety, Pharmacokinetics and Efficacy of rhGAA in Patients With Late-Onset Pompe Disease
• Date of first enrolment: February 2005
• Target sample size: 5
• Recruitment status: Completed
• URL: http://clinicaltrials.gov/show/NCT00250939
• Study type: Interventional
• Study design: Allocation: Non-Randomized, Endpoint Classification: Safety/Efficacy Study, Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Treatment
• Phase: Phase 2

Countries of recruitment

Netherlands

Contacts

• Name: Medical Monitor
• Affiliation: Genzyme, a Sanofi Company

Key inclusion & exclusion criteria

Inclusion Criteria:

- patient's legally authorized guardian(s) must provide signed, informed consent prior
to performing any study-related procedures; patient's signature required if patient
understands informed consent

- patient must have a diagnosis of Pompe disease based on deficient endogenous GAA
activity or GAA gene mutations

- patient must have demonstrable muscle weakness

- patient must be greater than or equal to five years of age and younger than eighteen
years of age

- patient must be able to provide 3 reproducible FVC tests in sitting position during
screening

- patient must perform muscle function testing

- patient must ambulate 10 meters (assistive devices permitted)

- patient and legal guardian must comply with the clinical protocol

Exclusion Criteria:

- patient requires the use of invasive ventilatory support

- patient requires the use of noninvasive ventilatory support while awake and in an
upright position

- patient has received enzyme replacement therapy with GAA from any source

- patient has used an investigational product within 30 days prior to study enrollment,
or is currently enrolled in another clinical or observational study

- patient has a medical condition, serious intercurrent illness, or other extenuating
circumstance that, may significantly interfere with study compliance, including all
prescribed evaluations and follow-up activities

- Female patients pregnant, lactating or unwilling to practice birth control methods
during study

- Male patients unwilling to use barrier contraceptives during study



Age minimum: 5 Years
Age maximum: 18 Years
Gender: Both

Health Condition(s) or Problem(s) studied

Acid Maltase Deficiency Disease

Glycogen Storage Disease Type II (GSD-II)

Pompe Disease (Late-onset)

Glycogenosis 2

Intervention(s)

Biological: Myozyme

Primary Outcome(s)

Effect of treatment on muscle function [Time Frame: 74 weeks]

FVC [Time Frame: 74 weeks]

MMT [Time Frame: 74 weeks]

safety and PK profile rhGAA [Time Frame: 74 weeks]

Secondary ID(s)

AGLU02804

Source(s) of Monetary Support

Please refer to primary and secondary sponsors