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

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Clinical Phase

PHASE2

Total Enrollment

8 participants

Study Classification

INTERVENTIONAL

Study Start Date

2001-05-31

Study Completion Date

2002-09-30

Brief Summary

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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.

Detailed Description

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Conditions

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

Study Design

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Allocation Method

NON_RANDOMIZED

Intervention Model

SINGLE_GROUP

Primary Study Purpose

TREATMENT

Blinding Strategy

NONE

Interventions

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recombinant human acid alpha-glucosidase (rhGAA)

Intervention Type DRUG

Eligibility Criteria

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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 (-)

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Responsible Party

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Responsibility Role SPONSOR

Locations

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Duke University Medical Center

Durham, North Carolina, United States

Site Status

Countries

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United States

References

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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. doi: 10.1016/j.ymgme.2009.08.003.

Reference Type DERIVED

PMID: 19775921 (View on PubMed)

Other Identifiers

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AGLU-001-00

Identifier Type: -

Identifier Source: org_study_id