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

Completed

• Conditions: Glycogen Storage Disease Type II; Pompe Disease
• Interventions: Other: Observation

• Registration Number: NCT00515398
• Lead Sponsor: Amicus Therapeutics

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 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 Timeline

• Study Start: 2007-08
• Study First Submitted: 2007-08-10
• Study First Submitted QC: 2007-08-10
• Study First Posted: 2007-08-13
• Primary Completion: 2008-01
• Study Completion: 2008-01
• Status Verified: 2008-06
• Last Update Submitted: 2008-06-04
• Last Update Posted: 2008-06-05

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 30

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
1	Observation	Group 1 (all subjects)

Primary Outcome Measures

Name	Time	Method
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	1 week

Secondary Outcome Measures

Name	Time	Method
To study biomarkers associated with Pompe Disease and study the correlation between biomarkers and clinical disease state of patients with Pompe disease	1 week

Trial Locations

Locations (4)

Washington University; 🇺🇸 St. Louis, Missouri, United States

Duke University; 🇺🇸 Durham, North Carolina, United States

University of Florida; 🇺🇸 Gainesville, Florida, United States

Center for Metabolic Disorders; 🇺🇸 Lake Success, New York, United States