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A Study to Evaluate the Effects of Pharmacological Chaperones in Cells From Patients With Pompe Disease

This study has been completed.
Sponsor:
Information provided by:
Amicus Therapeutics
ClinicalTrials.gov Identifier:
NCT00515398
First received: August 10, 2007
Last updated: June 4, 2008
Last verified: June 2008
History of Changes
  Purpose

The purpose of this study is to see how molecules called pharmacological chaperones affect the cells of patients with Pompe disease. The study will last 1 or 2 visits which will include a blood collection, urine collection, and two skin biopsies. Information will also be collected from the medical records about disease history and diagnosis. Patients will not receive any study medication.


Condition Intervention
Pompe Disease
Glycogen Storage Disease Type II
 Other: Observation

Study Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Cross-Sectional
Official Title: A Multicenter Study to Evaluate and Characterize the Effects of Pharmacological Chaperones in Cell Lines Derived From Blood and Skin Samples From Patients With Pompe Disease

Resource links provided by NLM:

U.S. FDA Resources

Further study details as provided by Amicus Therapeutics:

Primary Outcome Measures:
  • To evaluate and characterize the effects of pharmacological chaperones on enzyme activity and other markers of disease in cell lines derived from patients with Pompe disease [ Time Frame: 1 week ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • To study biomarkers associated with Pompe Disease and study the correlation between biomarkers and clinical disease state of patients with Pompe disease [ Time Frame: 1 week ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples With DNA

White blood cells


Enrollment: 30
Study Start Date: August 2007
Study Completion Date: January 2008
Primary Completion Date: January 2008 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
1
Group 1 (all subjects)
 Other: Observation
Ex vivo administration of AT2220

Detailed Description:

The study is designed to evaluate the response of cell lines derived from blood and skin tissue from Pompe patients to pharmacological chaperones. Samples of blood and skin tissue will be obtained to make cell lines that will be used to test pharmacological chaperones. The study will include patients with early and late-onset Pompe disease.

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

Patients with Pompe disease

Criteria

Inclusion Criteria:

  • Male or female of any age
  • Confirmed diagnosis of Pompe disease (early or late-onset)
  • Clinically stable
  • Written informed consent by subject or legal representative

Exclusion Criteria:

  • Other significant disease or otherwise unsuitable for the study, as determined by the investigator
  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT00515398

Locations
United States, Florida
University of Florida
Gainesville, Florida, United States, 32610-0296
United States, Missouri
Washington University
St. Louis, Missouri, United States, 63110
United States, New York
Center for Metabolic Disorders
Lake Success, New York, United States, 11042
United States, North Carolina
Duke University
Durham, North Carolina, United States, 27708
Sponsors and Collaborators
Amicus Therapeutics
Investigators
Study Director: Irina Kline, MD Amicus Therapeutics
  More Information

No publications provided

Responsible Party: Irina Kline, Medical Director, Amicus Therapeutics
ClinicalTrials.gov Identifier: NCT00515398     History of Changes
Other Study ID Numbers: POM-CL-001
Study First Received: August 10, 2007
Last Updated: June 4, 2008
Health Authority: United States: Institutional Review Board

Additional relevant MeSH terms:
Glycogen Storage Disease
Glycogen Storage Disease Type II
Genetic Diseases, Inborn
Metabolic Diseases
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
 Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Lysosomal Storage Diseases
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors

ClinicalTrials.gov processed this record on May 21, 2013