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

Study Status: Completed
Recruit Status: Completed
Study Type: Observational

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

Brief 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.

Detailed Summary: 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.
Sponsor: Amicus Therapeutics

Current Primary Outcome: 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 ]

Original Primary Outcome:

Current Secondary Outcome: 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 ]

Original Secondary Outcome:

Information By: Amicus Therapeutics

Dates:
Date Received: August 10, 2007
Date Started: August 2007
Date Completion:
Last Updated: June 4, 2008
Last Verified: June 2008