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

Pompe Disease (Late-onset) Clinical Trial

Official title:

Single-center, Open-label Study of Safety, Pharmacokinetics and Efficacy of rhGAA in Patients With Late-Onset Pompe Disease

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT00250939
• Other study ID #: AGLU02804
• Status: Completed
• Phase: Phase 2
• First received: November 8, 2005
• Last updated: February 4, 2014
• Start date: February 2005
• Est. completion date: November 2006

Study information

• Verified date: February 2014
• Source: Sanofi
• Contact: n/a
• Is FDA regulated: No
• Health authority: European Union: European Medicines Agency
• Study type: Interventional

Clinical Trial Summary

Pompe disease (also known as glycogen storage disease Type II) is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (GAA). Normally, GAA is used by the body's cells to break down glycogen (a stored form of sugar) within specialized structures called lysosomes. In patients with Pompe disease, an excessive amount of glycogen accumulates and is stored in various tissues, especially heart and skeletal muscle, which prevents their normal function. The overall objective is to evaluate the safety, pharmacokinetics (PK) and efficacy of Myozyme treatment.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 5
• Est. completion date: November 2006
• Est. primary completion date: July 2006
• Accepts healthy volunteers: No
• Gender: Both
• Age group: 5 Years to 18 Years

Eligibility

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

Study Design

Allocation: Non-Randomized, Endpoint Classification: Safety/Efficacy Study, Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Treatment

Related Conditions & MeSH terms

• Acid Maltase Deficiency Disease
• Deficiency Diseases
• Glycogen Storage Disease
• Glycogen Storage Disease Type II
• Glycogen Storage Disease Type II (GSD-II)
• Glycogenosis 2
• Pompe Disease (Late-onset)

Intervention

Biological:
• Myozyme
20 mg/kg qow

Locations

Country	Name	City	State
Netherlands	Sophia Kinderziekenhuis, Erasmus MC	Rotterdam

Sponsors (1)

Lead Sponsor	Collaborator
Genzyme, a Sanofi Company

Country where clinical trial is conducted

Netherlands, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	safety and PK profile rhGAA		74 weeks	No
Primary	FVC		74 weeks	No
Primary	MMT		74 weeks	No
Primary	Effect of treatment on muscle function		74 weeks	No