Status:
APPROVED_FOR_MARKETING
Expanded Access Use of Myozyme (Alglucosidase Alfa) in Patients With Infantile-onset Pompe Disease
Lead Sponsor:
Genzyme, a Sanofi Company
Conditions:
Glycogen Storage Disease Type II
Glycogenosis 2
Eligibility:
All Genders
Brief Summary
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...
Eligibility Criteria
Inclusion
- 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;
- The patient or his/her legal guardian(s) must have the ability to comply with the clinical protocol.
Exclusion
- 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.
Key Trial Info
Start Date :
December 1 2003
Trial Type :
EXPANDED_ACCESS
End Date :
February 1 2007
Estimated Enrollment :
Patients enrolled
Trial Details
Trial ID
NCT00074919
Start Date
December 1 2003
End Date
February 1 2007
Last Update
February 5 2014
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