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

Primary Purpose

Glycogen Storage Disease Type II, Pompe Disease, Acid Maltase Deficiency Disease

Status
Completed
Phase
Phase 2
Locations
United States
Study Type
Interventional
Intervention
Alglucosidase alfa
Sponsored by
Genzyme, a Sanofi Company
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional treatment trial for Glycogen Storage Disease Type II focused on measuring Glycogen Storage Disease Type II, GSD-II, Pompe Disease

Eligibility Criteria

undefined - undefined (Child, Adult, Older Adult)All SexesDoes not accept healthy volunteers

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.

Sites / Locations

  • Saint Peter's University Hospital

Arms of the Study

Arm 1

Arm Type

Experimental

Arm Label

1

Arm Description

Outcomes

Primary Outcome Measures

Evaluate safety, pharmacokinetics and pharmacodynamics
Evaluate differences in skeletal muscle gene expression in sibling pair with identical GAA mutations
Evaluate differences in skeletal muscle expression prior to and after ERT

Secondary Outcome Measures

Full Information

First Posted
January 17, 2003
Last Updated
February 4, 2014
Sponsor
Genzyme, a Sanofi Company
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1. Study Identification

Unique Protocol Identification Number
NCT00051935
Brief Title
A Study of the Safety and Pharmacokinetics of rhGAA in Siblings With Glycogen Storage Disease Type II
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).
Study Type
Interventional

2. Study Status

Record Verification Date
February 2014
Overall Recruitment Status
Completed
Study Start Date
January 2003 (undefined)
Primary Completion Date
April 2003 (Actual)
Study Completion Date
October 2003 (Actual)

3. Sponsor/Collaborators

Name of the Sponsor
Genzyme, a Sanofi Company

4. Oversight

5. Study Description

Brief 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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Glycogen Storage Disease Type II, Pompe Disease, Acid Maltase Deficiency Disease, Glycogenosis 2
Keywords
Glycogen Storage Disease Type II, GSD-II, Pompe Disease

7. Study Design

Primary Purpose
Treatment
Study Phase
Phase 2
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
Non-Randomized
Enrollment
2 (Actual)

8. Arms, Groups, and Interventions

Arm Title
1
Arm Type
Experimental
Intervention Type
Drug
Intervention Name(s)
Alglucosidase alfa
Intervention Description
20 mg/kg (qow); intravenous
Primary Outcome Measure Information:
Title
Evaluate safety, pharmacokinetics and pharmacodynamics
Time Frame
52 weeks
Title
Evaluate differences in skeletal muscle gene expression in sibling pair with identical GAA mutations
Time Frame
52 weeks
Title
Evaluate differences in skeletal muscle expression prior to and after ERT
Time Frame
52 weeks

10. Eligibility

Sex
All
Accepts Healthy Volunteers
No
Eligibility 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.
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Medical Monitor
Organizational Affiliation
Genzyme, a Sanofi Company
Official's Role
Study Director
Facility Information:
Facility Name
Saint Peter's University Hospital
City
New Brunswick
State/Province
New Jersey
ZIP/Postal Code
08903-0591
Country
United States

12. IPD Sharing Statement

Learn more about this trial

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

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