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

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).

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.

Study Overview

• Status: Completed
• Conditions: Glycogen Storage Disease Type II; Acid Maltase Deficiency Disease; Glycogenosis 2; Pompe Disease
• Intervention / Treatment: Drug: Alglucosidase alfa

• Study Type: Interventional
• Enrollment (Actual): 2
• Phase: Phase 2

Contacts and Locations

Study Locations

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

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

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 Plan

How is the study designed?

Design Details

• Primary Purpose: Treatment
• Allocation: Non-Randomized
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: 1	Drug: Alglucosidase alfa; 20 mg/kg (qow); intravenous

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Evaluate safety, pharmacokinetics and pharmacodynamics	52 weeks
Evaluate differences in skeletal muscle gene expression in sibling pair with identical GAA mutations	52 weeks
Evaluate differences in skeletal muscle expression prior to and after ERT	52 weeks

Collaborators and Investigators

• Sponsor: Genzyme, a Sanofi Company

Study record dates

Study Major Dates

• Study Start: January 1, 2003
• Primary Completion (Actual): April 1, 2003
• Study Completion (Actual): October 1, 2003

Study Registration Dates

• First Submitted: January 17, 2003
• First Submitted That Met QC Criteria: January 21, 2003
• First Posted (Estimate): January 22, 2003

Study Record Updates

• Last Update Posted (Estimate): February 5, 2014
• Last Update Submitted That Met QC Criteria: February 4, 2014
• Last Verified: February 1, 2014

More Information

Terms related to this study

• Keywords: Glycogen Storage Disease Type II; GSD-II; Pompe Disease
• Additional Relevant MeSH Terms: Pathologic Processes; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Nutrition Disorders; Genetic Diseases, Inborn; Malnutrition; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Lysosomal Storage Diseases, Nervous System; Disease; Metabolic Diseases; Deficiency Diseases; Glycogen Storage Disease Type II; Glycogen Storage Disease
• Other Study ID Numbers: AGLU01502