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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT00051935
Recruitment Status : Completed
First Posted : January 22, 2003
Last Update Posted : February 5, 2014
Sponsor:
Information provided by:
Sanofi

Tracking Information
First Submitted Date  ICMJE January 17, 2003
First Posted Date  ICMJE January 22, 2003
Last Update Posted Date February 5, 2014
Study Start Date  ICMJE January 2003
Actual Primary Completion Date April 2003   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures  ICMJE
 (submitted: November 23, 2008)
  • 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 ]
Original Primary Outcome Measures  ICMJE Not Provided
Change History Complete list of historical versions of study NCT00051935 on ClinicalTrials.gov Archive Site
Current Secondary Outcome Measures  ICMJE Not Provided
Original Secondary Outcome Measures  ICMJE Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title  ICMJE A Study of the Safety and Pharmacokinetics of rhGAA in Siblings With Glycogen Storage Disease Type II
Official Title  ICMJE 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).
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.
Detailed Description Not Provided
Study Type  ICMJE Interventional
Study Phase  ICMJE Phase 2
Study Design  ICMJE Allocation: Non-Randomized
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Condition  ICMJE
  • Glycogen Storage Disease Type II
  • Pompe Disease
  • Acid Maltase Deficiency Disease
  • Glycogenosis 2
Intervention  ICMJE Drug: Alglucosidase alfa
20 mg/kg (qow); intravenous
Study Arms  ICMJE Experimental: 1
Intervention: Drug: Alglucosidase alfa
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status  ICMJE Completed
Actual Enrollment  ICMJE
 (submitted: June 23, 2005)
2
Original Enrollment  ICMJE Same as current
Actual Study Completion Date  ICMJE October 2003
Actual Primary Completion Date April 2003   (Final data collection date for primary outcome measure)
Eligibility Criteria  ICMJE

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.
Sex/Gender  ICMJE
Sexes Eligible for Study: All
Ages  ICMJE Child, Adult, Older Adult
Accepts Healthy Volunteers  ICMJE No
Contacts  ICMJE Contact information is only displayed when the study is recruiting subjects
Listed Location Countries  ICMJE United States
Removed Location Countries  
 
Administrative Information
NCT Number  ICMJE NCT00051935
Other Study ID Numbers  ICMJE AGLU01502
Has Data Monitoring Committee Not Provided
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement  ICMJE Not Provided
Responsible Party Medical Monitor, Genzyme Corporation
Study Sponsor  ICMJE Genzyme, a Sanofi Company
Collaborators  ICMJE Not Provided
Investigators  ICMJE
Study Director: Medical Monitor Genzyme, a Sanofi Company
PRS Account Sanofi
Verification Date February 2014

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP