NCT00250939

Brief 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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
5

participants targeted

Target at below P25 for phase_2

Timeline
Completed

Started Feb 2005

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

February 1, 2005

Completed
9 months until next milestone

First Submitted

Initial submission to the registry

November 8, 2005

Completed
1 day until next milestone

First Posted

Study publicly available on registry

November 9, 2005

Completed
8 months until next milestone

Primary Completion

Last participant's last visit for primary outcome

July 1, 2006

Completed
4 months until next milestone

Study Completion

Last participant's last visit for all outcomes

November 1, 2006

Completed
Last Updated

February 6, 2014

Status Verified

February 1, 2014

Enrollment Period

1.4 years

First QC Date

November 8, 2005

Last Update Submit

February 4, 2014

Conditions

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

Keywords

Glycogen Storage Disease Type IIGSD-IIPompe Disease

Outcome Measures

Primary Outcomes (4)

  • safety and PK profile rhGAA

    74 weeks

  • FVC

    74 weeks

  • MMT

    74 weeks

  • Effect of treatment on muscle function

    74 weeks

Study Arms (1)

1

EXPERIMENTAL
Biological: Myozyme

Interventions

MyozymeBIOLOGICAL

20 mg/kg qow

Also known as: alglucosidase alfa
1

Eligibility Criteria

Age5 Years - 18 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64)

You may qualify if:

  • 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

You may not qualify if:

  • 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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Sophia Kinderziekenhuis, Erasmus MC

Rotterdam, 3015, Netherlands

Location

MeSH Terms

Conditions

Glycogen Storage Disease Type II

Interventions

GAA protein, human

Condition Hierarchy (Ancestors)

Lysosomal Storage Diseases, Nervous SystemBrain Diseases, Metabolic, InbornBrain Diseases, MetabolicBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesMetabolism, Inborn ErrorsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesGlycogen Storage DiseaseCarbohydrate Metabolism, Inborn ErrorsLysosomal Storage DiseasesMetabolic DiseasesNutritional and Metabolic Diseases

Study Officials

  • Medical Monitor

    Genzyme, a Sanofi Company

    STUDY DIRECTOR

Study Design

Study Type
interventional
Phase
phase 2
Allocation
NON RANDOMIZED
Masking
NONE
Purpose
TREATMENT
Intervention Model
SINGLE GROUP
Sponsor Type
INDUSTRY

Study Record Dates

First Submitted

November 8, 2005

First Posted

November 9, 2005

Study Start

February 1, 2005

Primary Completion

July 1, 2006

Study Completion

November 1, 2006

Last Updated

February 6, 2014

Record last verified: 2014-02

Locations

NL(1)