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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

August 10, 2007
June 4, 2008
August 2007
January 2008   (final data collection date for primary outcome measure)
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 ]
Not Provided
Complete list of historical versions of study NCT00515398 on ClinicalTrials.gov Archive Site
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 ]
Not Provided
Not Provided
Not Provided
 
A Study to Evaluate the Effects of Pharmacological Chaperones in Cells From Patients With Pompe Disease
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

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.

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.
Observational
Observational Model: Case-Only
Time Perspective: Cross-Sectional
Not Provided
Retention:   Samples With DNA
Description:

White blood cells
Non-Probability Sample

Patients with Pompe disease
  • Pompe Disease
  • Glycogen Storage Disease Type II
Other: Observation
Ex vivo administration of AT2220
1
Group 1 (all subjects)
Intervention: Other: Observation
Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Completed
30
January 2008
January 2008   (final data collection date for primary outcome measure)

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
Both
Not Provided
No
Contact information is only displayed when the study is recruiting subjects
United States
 
NCT00515398
POM-CL-001
No
Irina Kline, Medical Director, Amicus Therapeutics
Amicus Therapeutics
Not Provided
Study Director: Irina Kline, MD Amicus Therapeutics
Amicus Therapeutics
June 2008

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