Clinical Trial: Safety and Efficacy of Recombinant Human Acid Alpha-Glucosidase in the Treatment of Classical Infantile Pompe Disease

This study has been completed.

Sponsored by: Genzyme
Information provided by: Genzyme


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 infants with severe cases of Pompe disease (called Classical Infantile Pompe disease), an excessive amount of glycogen accumulates and is stored in various tissues, especially heart, skeletal muscle, and liver, which prevents their normal function. This study being conducted to evaluate the safety and effectiveness of recombinant human acid alpha-glucosidase (rhGAA) as a potential enzyme replacement therapy for Pompe disease. Patients diagnosed with Classical Infantile Pompe disease who have a small, but inactive, amount of natural GAA enzyme present in their bodies (called Cross-Reacting Immunologic Material-Positive or "CRIM (+)" patients), will be studied.

Condition Treatment or Intervention Phase
Pompe Disease
Glycogen Storage Disease Type II
Acid Maltase Deficiency Disease
Glycogenosis 2
 Drug: recombinant human acid alpha-glucosidase (rhGAA)
Phase II

MedlinePlus related topics:  Genetic Brain Disorders;   Genetic Disorders;   Metabolic Disorders

Study Type: Interventional
Study Design: Treatment, Non-Randomized, Open Label, Historical Control, Single Group Assignment, Safety/Efficacy Study

Official Title: A Prospective Multinational, Multicenter, Clinical Trial of the Safety and Efficacy of Recombinant Human Acid Alpha-Glucosidase (rhGAA) in Cross-Reacting Immunologic Material-Positive Patients with Classical Infantile Pompe Disease

Further Study Details: 

Expected Total Enrollment:  8

Study start: May 2001;  Study completion: November 2002


Genders Eligible for Study:  Both


Inclusion Criteria:

  • Clinical diagnosis of Classical Infantile Pompe Disease
  • endogenous GAA activity < 1.0%
  • cardiomegaly
  • cardiomyopathy
  • CRIM (+)
  • ability to comply with the clinical protocol which will require extensive clinical evaluations

Exclusion Criteria:

  • respiratory insufficiency
  • cardiac failure
  • major congenital abnormality
  • any other medical condition that could potentially decrease survival
  • CRIM (-)

Location Information

North Carolina
      Duke University Medical Center, Durham,  North Carolina,  27710,  United States

More Information

Study ID Numbers:  AGLU-001-00
Record last reviewed:  March 2004
Last Updated:  October 13, 2004
Record first received:  October 31, 2001 Identifier:  NCT00025896
Health Authority: United States: Food and Drug Administration processed this record on 2005-04-08

Cache Date: April 9, 2005