Safety and Efficacy of Recombinant Human Acid Alpha-Glucosidase in the Treatment of Classical Infantile Pompe Disease - Full Text View

Sponsor:	Genzyme
Information provided by:	Genzyme
ClinicalTrials.gov Identifier:	NCT00025896

Purpose

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

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

Resource links provided by NLM:

Genetics Home Reference related topics: argininosuccinic aciduria ataxia neuropathy spectrum carbamoyl phosphate synthetase I deficiency childhood myocerebrohepatopathy spectrum citrullinemia deoxyguanosine kinase deficiency mitochondrial neurogastrointestinal encephalopathy disease myoclonic epilepsy myopathy sensory ataxia N-acetylglutamate synthase deficiency ornithine translocase deficiency Pompe disease Schindler disease succinic semialdehyde dehydrogenase deficiency

Drug Information available for: Alglucosidase Alfa Glucan 1,4-alpha-Glucosidase

U.S. FDA Resources

Further study details as provided by Genzyme:

Estimated Enrollment:	8
Study Start Date:	May 2001
Estimated Study Completion Date:	November 2002

Eligibility

Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	No

Criteria

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 (-)

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00025896

Locations

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

Sponsors and Collaborators

Genzyme

More Information

No publications provided by Genzyme

Additional publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):

Kishnani PS, Goldenberg PC, DeArmey SL, Heller J, Benjamin D, Young S, Bali D, Smith SA, Li JS, Mandel H, Koeberl D, Rosenberg A, Chen YT. Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants. Mol Genet Metab. 2010 Jan;99(1):26-33.

Responsible Party:	Medical Monitor, Genzyme Corporation
ClinicalTrials.gov Identifier:	NCT00025896 History of Changes
Other Study ID Numbers:	AGLU-001-00
Study First Received:	October 31, 2001
Last Updated:	August 4, 2009
Health Authority:	United States: Food and Drug Administration

Additional relevant MeSH terms:

Deficiency Diseases
Carbamoyl-Phosphate Synthase I Deficiency Disease
Glycogen Storage Disease Type II
Glycogen Storage Disease
Malnutrition
Nutrition Disorders
Urea Cycle Disorders, Inborn
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases

Central Nervous System Diseases
Nervous System Diseases
Amino Acid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases
Mitochondrial Diseases
Lysosomal Storage Diseases, Nervous System
Carbohydrate Metabolism, Inborn Errors
Lysosomal Storage Diseases

ClinicalTrials.gov processed this record on February 09, 2012