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

Pompe Disease Clinical Trial

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

Clinical Trial Summary

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.

Clinical Trial 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. ;

Study Design

Observational Model: Case-Only, Time Perspective: Cross-Sectional

Related Conditions & MeSH terms

Clinical Trial Details
NCT number NCT00515398
Study type Observational
Source Amicus Therapeutics
Contact
Status Completed
Phase N/A
Start date August 2007
Completion date January 2008
View Details
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