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

• Sponsor: Amicus Therapeutics (Industry)
• Overall Status: Completed
• CT.gov ID: NCT00515398
• Collaborator: (none)
• Enrollment: 30
• Locations: 4
• Duration (Months): 5
• Patients Per Site: 7.5
• Patients Per Site Per Month: 1.5

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Pompe Disease; Glycogen Storage Disease Type II	Other: Observation

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 Design

• Study Type: Observational
• Actual Enrollment: 30 participants
• 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
• Study Start Date: Aug 1, 2007
• Actual Primary Completion Date: Jan 1, 2008
• Actual Study Completion Date: Jan 1, 2008

Arms and Interventions

Arm	Intervention/Treatment
1 Group 1 (all subjects)	Other: Observation; Ex vivo administration of AT2220

Outcome Measures

Primary Outcome Measures

1. 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

1. To study biomarkers associated with Pompe Disease and study the correlation between biomarkers and clinical disease state of patients with Pompe disease [1 week]

Eligibility Criteria

Criteria

• Ages Eligible for Study: N/A and Older
• Sexes Eligible for Study: All
• Accepts Healthy Volunteers: No

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

Locations

	Site	City	State	Country	Postal Code
1	University of Florida	Gainesville	Florida	United States	32610-0296
2	Washington University	St. Louis	Missouri	United States	63110
3	Center for Metabolic Disorders	Lake Success	New York	United States	11042
4	Duke University	Durham	North Carolina	United States	27708

Sponsors and Collaborators

• Amicus Therapeutics

Investigators

• Study Director: Irina Kline, MD, Amicus Therapeutics

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

• ClinicalTrials.gov Identifier: NCT00515398
• Other Study ID Numbers: POM-CL-001
• First Posted: Aug 13, 2007
• Last Update Posted: Jun 5, 2008
• Last Verified: Jun 1, 2008

• Additional relevant MeSH terms: Glycogen Storage Disease Type II; Glycogen Storage Disease

Study Results

No Results Posted as of Jun 5, 2008