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AGLU01502: A Study of the Safety and Pharmacokinetics of rhGAA in Siblings with Glycogen Storage Disease Type II

This study has been completed.

Sponsored By:

Genzyme

Information Provided By:

Genzyme

ClinicalTrials.gov Identifier:

NCT00051935

Purpose

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.

Condition

Intervention

Phase

Glycogen Storage Disease Type II

Pompe Disease

Acid Maltase Deficiency Disease

Glycogenosis 2

Drug: recombinant human acid alpha-glucosidase (rhGAA)

Phase II

Study Type: Interventional

Study Design: Treatment, Non-Randomized, Open Label, Uncontrolled, Single Group Assignment, Safety/Efficacy Study

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).

Further Study Details:

Expected Total Enrollment: 2

Study start: January 2003

Eligibility

Ages Eligible for Study: Both

Criteria

Inclusion Criteria:

  1. Written informed consent must be obtained from the parent or guardian prior to performing any study related procedures;
  2. Patient must have a clinical diagnosis of GSD-II confirmed by endogenous GAA activity below normal in at least one tissue;
  3. 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;
  4. Patient must have a sibling with identical GAA mutations who is eligible for participation in this study;
  5. Patient must have a sibling with evidence of different progression of GSD-II who is eligible for participation in this study;
  6. The patient or his/her guardian(s) must have the ability to comply with the clinical protocol.

Exclusion Criteria: Patients must not have:

  1. 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;
  2. Patient is participating in another investigational study.

Location Information

New Jersey
Saint Peter’s University Hospital, New Brunswick, New Jersey, 08903-0591, United States

More Information

Myozyme® FDA-approved labeling information

Study ID Numbers: AGLU01502
ClinicalTrials.gov Identifier: NCT00051935
Health Authority: United States: Food and Drug Administration
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