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

Pompe Disease Clinical Trial

Official 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).

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT00051935
• Other study ID #: AGLU01502
• Status: Completed
• Phase: Phase 2
• First received: January 17, 2003
• Last updated: February 4, 2014
• Start date: January 2003
• Est. completion date: October 2003

Study information

• Verified date: February 2014
• Source: Sanofi
• Contact: n/a
• Is FDA regulated: No
• Health authority: United States: Food and Drug Administration
• Study type: Interventional

Clinical Trial Summary

GSD-II (also known as 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 patients with GSD-II, an excessive amount of glycogen accumulates and is stored in various tissues, especially heart and skeletal muscle, which prevents their normal function. This study is being conducted to evaluate the safety, pharmacokinetics, pharmacodynamics and efficacy of recombinant human acid alpha-glucosidase (rhGAA) as a potential enzyme replacement therapy for a pair of siblings with GSD-II. To be eligible for this study, a patient must have a confirmed diagnosis of GSD-II and have a sister or brother who also has a confirmed diagnosis of GSD-II.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 2
• Est. completion date: October 2003
• Est. primary completion date: April 2003
• Accepts healthy volunteers: No
• Gender: Both
• Age group: N/A and older

Eligibility

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.

Study Design

Allocation: Non-Randomized, Endpoint Classification: Safety/Efficacy Study, Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Treatment

Related Conditions & MeSH terms

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

Intervention

Drug:
• Alglucosidase alfa
20 mg/kg (qow); intravenous

Locations

Country	Name	City	State
United States	Saint Peter's University Hospital	New Brunswick	New Jersey

Sponsors (1)

Lead Sponsor	Collaborator
Genzyme, a Sanofi Company

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Evaluate safety, pharmacokinetics and pharmacodynamics		52 weeks	No
Primary	Evaluate differences in skeletal muscle gene expression in sibling pair with identical GAA mutations		52 weeks	No
Primary	Evaluate differences in skeletal muscle expression prior to and after ERT		52 weeks	No