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A Study of the Safety and Pharmacokinetics of rhGAA in Siblings With Glycogen Storage Disease Type II

NCT00051935 · Status: COMPLETED · Phase: PHASE2 · Type: INTERVENTIONAL · Enrollment: 2

Last updated 2014-02-05

No results posted yet for this study

Summary

GSD-II (also known as Pompe disease) 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 GSD-II, an excessive amount of glycogen accumulates and is stored in various tissues, especially heart and skeletal muscle, which prevents their normal function. This study is being conducted to evaluate the safety, pharmacokinetics, pharmacodynamics and efficacy of recombinant human acid alpha-glucosidase (rhGAA) as a potential enzyme replacement therapy for a pair of siblings with GSD-II. To be eligible for this study, a patient must have a confirmed diagnosis of GSD-II and have a sister or brother who also has a confirmed diagnosis of GSD-II.

Conditions

  • Glycogen Storage Disease Type II
  • Pompe Disease
  • Acid Maltase Deficiency Disease
  • Glycogenosis 2

Interventions

DRUG

Alglucosidase alfa

20 mg/kg (qow); intravenous

Sponsors & Collaborators

  • Genzyme, a Sanofi Company

    lead INDUSTRY

Principal Investigators

  • Medical Monitor · Genzyme, a Sanofi Company

Study Design

Allocation
NON_RANDOMIZED
Purpose
TREATMENT
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2003-01-31
Primary Completion
2003-04-30
Completion
2003-10-31

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00051935 on ClinicalTrials.gov