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

• Register: ClinicalTrials.gov
• Last refreshed on: 19 February 2015
• Main ID: NCT00074919
• Date of registration: 23/12/2003
• Prospective Registration: No
• Primary sponsor: Genzyme, a Sanofi Company
• Public title: Expanded Access Use of Myozyme (Alglucosidase Alfa) in Patients With Infantile-onset Pompe Disease
• Scientific title: Expanded Access Use of Myozyme (Alglucosidase Alfa) in Patients With Infantile-onset Pompe Disease
• Date of first enrolment: December 2003
• Recruitment status: Approved for marketing
• URL: http://clinicaltrials.gov/show/NCT00074919
• Study type: Expanded Access
• Study design: N/A
• Phase: N/A

Countries of recruitment

United States

Contacts

• Name: Medical Monitor
• Affiliation: Genzyme, a Sanofi Company

Key inclusion & exclusion criteria

Inclusion Criteria:

- 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 Criteria:

- 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.



Age minimum: N/A
Age maximum: N/A
Gender: Both

Health Condition(s) or Problem(s) studied

Glycogen Storage Disease Type II

Glycogenosis 2

Intervention(s)

Biological: alglucosidase alfa

Secondary ID(s)

AGLU02203

Source(s) of Monetary Support

Please refer to primary and secondary sponsors