Completed

Expanded Access Use of Myozyme (Alglucosidase Alfa) in Patients With Infantile-onset Pompe Disease

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What is being tested

Data Collection

Who is eligible

Brain Diseases+12

+ Brain Diseases, Metabolic

+ Carbohydrate Metabolism, Inborn Errors

+7 Eligibility Criteria
See all eligibility criteria
How is it accessible

Completed

Available upon a request by a licensed MD
Expanded Access
See protocol details

Summary

Principal SponsorGenzyme, a Sanofi Company
Last updated: January 27, 2026
Sourced from a government-validated database.Claim as a partner

Study start date: December 1, 2003

Actual date on which the first participant was enrolled.

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 objective of this protocol is to provide enzyme replacement therapy with rhGAA on an expanded access basis, to severely affected patients with infantile-onset Pompe disease for whom there is no alternative treatment and who do not meet the clinical characteristics described in the inclusion criteria for participation in other Genzyme Corporation-sponsored study currently enrolling patients with infantile-onset Pompe disease.

Official TitleExpanded Access Use of Myozyme (Alglucosidase Alfa) in Patients With Infantile-onset Pompe Disease
NCT00074919
Principal SponsorGenzyme, a Sanofi Company
Last updated: January 27, 2026
Sourced from a government-validated database.Claim as a partner

Protocol

This section provides details of the study plan, including how the study is designed and what the study is measuring.

Eligibility

Researchers look for people who fit a certain description, called eligibility criteria: person's general health condition or prior treatments.
Conditions
Criteria

Any sex

Biological sex of participants that are eligible to enroll.

Healthy volunteers not allowed

If individuals who are healthy and do not have the condition being studied can participate.

Conditions

Pathology

Brain DiseasesBrain Diseases, MetabolicCarbohydrate Metabolism, Inborn ErrorsCentral Nervous System DiseasesGlycogen Storage DiseaseGlycogen Storage Disease Type IIMetabolic DiseasesMetabolism, Inborn ErrorsCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesNervous System DiseasesNutritional and Metabolic DiseasesLysosomal Storage DiseasesLysosomal Storage Diseases, Nervous SystemBrain Diseases, Metabolic, InbornGenetic Diseases, Inborn

Criteria

5 inclusion criteria required to participate
The patient or the patient's legal guardian(s) must provide written informed consent prior to any study-related procedures being performed;
The patient must have a diagnosis of infantile-onset Pompe disease as defined by: a) The patient has/had onset of symptoms compatible with Pompe disease by 12 months of age adjusted for gestation, if necessary. Age at onset of symptoms must be documented in the patient's medical record(s). AND b) The patient has documented GAA deficiency, i.e., below the laboratory-defined cut-off value as determined by the laboratory performing the GAA enzyme activity assay. Tissues used for determination of GAA deficiency may include blood, muscle or skin fibroblasts.
Patients less than or equal to 6 months of age must have one of the following: a) Cardiomyopathy, defined as a LVMI determined by cross-sectional echocardiography; OR b) a requirement for invasive or non-invasive ventilatory support, where non-invasive ventilation is defined as any form of ventilatory support applied without the use of an endotracheal tube.
Patients greater than 6 months of age must have 2 of the following: a) Cardiomyopathy, defined as a LVMI determined by cross-sectional echocardiography; b) a requirement for invasive or non-invasive ventilatory support, where non-invasive ventilation is defined as any form of ventilatory support applied without the use of an endotracheal tube; OR c) Severe motor delay, defined as failure to perform gross motor skills achieved by 90% of normal aged peers on the Denver Developmental Assessment;
Show More Criteria
2 exclusion criteria prevent from participating
Major congenital abnormality;
Clinically significant organic disease (with the exception of symptoms relating to infantile-onset Pompe disease), including clinically significant cardiovascular, hepatic, pulmonary, neurologic, or renal disease, or other medical condition, serious intercurrent illness, or extenuating circumstance that, in the opinion of the Investigator, would preclude participation in the study or potentially decrease survival.

Study Centers

These are the hospitals, clinics, or research facilities where the trial is being conducted. You can find the location closest to you and its status.
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CompletedNo study centers