A Study of the Safety and Pharmacokinetics of rhGAA in Siblings With Glycogen Storage Disease Type II

• Register: ClinicalTrials.gov
• Last refreshed on: 19 February 2015
• Main ID: NCT00051935
• Date of registration: 17/01/2003
• Prospective Registration: No
• Primary sponsor: Genzyme, a Sanofi Company
• Public title: A Study of the Safety and Pharmacokinetics of rhGAA in Siblings With Glycogen Storage Disease Type II
• Scientific title: Open-Label, Pilot Study of the Safety, Pharmacokinetics and Pharmacodynamics of Recombinant Human Acid Alpha-Glucosidase (rhGAA) as Enzyme Replacement Therapy in Siblings With Glycogen Storage Disease Type II (GSD-II).
• Date of first enrolment: January 2003
• Target sample size: 2
• Recruitment status: Completed
• URL: http://clinicaltrials.gov/show/NCT00051935
• Study type: Interventional
• Study design: Allocation: Non-Randomized, Endpoint Classification: Safety/Efficacy Study, Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Treatment
• Phase: Phase 2

Countries of recruitment

United States

Contacts

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

Key inclusion & exclusion criteria

Inclusion Criteria:

- Written informed consent must be obtained from the parent or guardian prior to
performing any study related procedures;

- Patient must have a clinical diagnosis of GSD-II confirmed by endogenous GAA activity
below normal in at least one tissue;

- Patient must have a sibling with a clinical diagnosis of GSD-II confirmed by an
endogenous GAA activity below normal in at least one tissue, who is eligible for
participation in this study;

- Patient must have a sibling with identical GAA mutations who is eligible for
participation in this study;

- Patient must have a sibling with evidence of different progression of GSD-II who is
eligible for participation in this study;

- The patient or his/her guardian(s) must have the ability to comply with the clinical
protocol.

Exclusion Criteria:

- Patient has significant organic disease (with the exception of symptoms relating to
GSD-II), including clinically significant cardiovascular, hepatic, pulmonary,
neurologic, or renal disease, or other medical condition, serious intercurrent
illness, or extenuating circumstance that, would preclude participation in the trial;

- Patient is participating in another investigational study.



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

Health Condition(s) or Problem(s) studied

Acid Maltase Deficiency Disease

Pompe Disease

Glycogen Storage Disease Type II

Glycogenosis 2

Intervention(s)

Drug: Alglucosidase alfa

Primary Outcome(s)

Evaluate safety, pharmacokinetics and pharmacodynamics [Time Frame: 52 weeks]

Evaluate differences in skeletal muscle gene expression in sibling pair with identical GAA mutations [Time Frame: 52 weeks]

Evaluate differences in skeletal muscle expression prior to and after ERT [Time Frame: 52 weeks]

Secondary ID(s)

AGLU01502

Source(s) of Monetary Support

Please refer to primary and secondary sponsors