NCT00051935

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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
2

participants targeted

Target at below P25 for phase_2

Timeline
Completed

Started Jan 2003

Shorter than P25 for phase_2

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

January 1, 2003

Completed
16 days until next milestone

First Submitted

Initial submission to the registry

January 17, 2003

Completed
5 days until next milestone

First Posted

Study publicly available on registry

January 22, 2003

Completed
2 months until next milestone

Primary Completion

Last participant's last visit for primary outcome

April 1, 2003

Completed
6 months until next milestone

Study Completion

Last participant's last visit for all outcomes

October 1, 2003

Completed
Last Updated

February 5, 2014

Status Verified

February 1, 2014

Enrollment Period

3 months

First QC Date

January 17, 2003

Last Update Submit

February 4, 2014

Conditions

Glycogen Storage Disease Type IIPompe DiseaseAcid Maltase Deficiency DiseaseGlycogenosis 2

Keywords

Glycogen Storage Disease Type IIGSD-IIPompe Disease

Outcome Measures

Primary Outcomes (3)

  • 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

Study Arms (1)

1

EXPERIMENTAL
Drug: Alglucosidase alfa

Interventions

Alglucosidase alfaDRUG

20 mg/kg (qow); intravenous

1

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

  • 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.

You may not qualify if:

  • 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.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Saint Peter's University Hospital

New Brunswick, New Jersey, 08903-0591, United States

Location

MeSH Terms

Conditions

Glycogen Storage Disease Type II

Interventions

GAA protein, human

Condition Hierarchy (Ancestors)

Lysosomal Storage Diseases, Nervous SystemBrain Diseases, Metabolic, InbornBrain Diseases, MetabolicBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesMetabolism, Inborn ErrorsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesGlycogen Storage DiseaseCarbohydrate Metabolism, Inborn ErrorsLysosomal Storage DiseasesMetabolic DiseasesNutritional and Metabolic Diseases

Study Officials

  • Medical Monitor

    Genzyme, a Sanofi Company

    STUDY DIRECTOR

Study Design

Study Type
interventional
Phase
phase 2
Allocation
NON RANDOMIZED
Masking
NONE
Purpose
TREATMENT
Intervention Model
SINGLE GROUP
Sponsor Type
INDUSTRY

Study Record Dates

First Submitted

January 17, 2003

First Posted

January 22, 2003

Study Start

January 1, 2003

Primary Completion

April 1, 2003

Study Completion

October 1, 2003

Last Updated

February 5, 2014

Record last verified: 2014-02

Locations

US(1)