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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.
Information provided by:
Amicus Therapeutics Identifier:
First received: August 10, 2007
Last updated: June 4, 2008
Last verified: June 2008
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:

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 ]

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 ]

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
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.

Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with Pompe disease

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
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00515398

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
Study Director: Irina Kline, MD Amicus Therapeutics
  More Information

Responsible Party: Irina Kline, Medical Director, Amicus Therapeutics Identifier: NCT00515398     History of Changes
Other Study ID Numbers: POM-CL-001
Study First Received: August 10, 2007
Last Updated: June 4, 2008

Additional relevant MeSH terms:
Glycogen Storage Disease Type II
Glycogen Storage Disease
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Carbohydrate Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases processed this record on September 21, 2017