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

Sponsored by:	Amicus Therapeutics
Information provided by:	Amicus Therapeutics
ClinicalTrials.gov Identifier:	NCT00515398

Purpose

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	Intervention
Pompe Disease Glycogen Storage Disease Type II	Other: Observation

Genetics Home Reference related topics: Pompe disease

U.S. FDA Resources

Study Type:	Observational
Study Design:	Case-Only, 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

Further study details as provided by Amicus Therapeutics:

Primary Outcome Measures:

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 ]

Secondary Outcome Measures:

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 ]

Biospecimen Retention: Samples With DNA

Biospecimen Description:

White blood cells

Enrollment:	30
Study Start Date:	August 2007
Study Completion Date:	January 2008
Primary Completion Date:	January 2008 (Final data collection date for primary outcome measure)

Groups/Cohorts	Assigned Interventions
1 Group 1 (all subjects)	Other: Observation Ex vivo administration of AT2220

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.

Eligibility

Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	No
Sampling Method:	Non-Probability Sample

Study Population

Patients with Pompe disease

Criteria

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

Please refer to this study by its ClinicalTrials.gov identifier: NCT00515398

Locations

United States, Florida
University of Florida
Gainesville, Florida, United States, 32610-0296
United States, Missouri
Washington University
St. Louis, Missouri, United States, 63110
United States, New York
Center for Metabolic Disorders
Lake Success, New York, United States, 11042
United States, North Carolina
Duke University
Durham, North Carolina, United States, 27708

Sponsors and Collaborators

Amicus Therapeutics

Investigators

Study Director:

Irina Kline, MD

Amicus Therapeutics

More Information

Responsible Party:	Amicus Therapeutics ( Irina Kline, Medical Director )
Study ID Numbers:	POM-CL-001
Study First Received:	August 10, 2007
Last Updated:	June 4, 2008
ClinicalTrials.gov Identifier:	NCT00515398
Health Authority:	United States: Institutional Review Board

Study placed in the following topic categories:

Glycogen storage disease type 2
Metabolism, Inborn Errors
Metabolic Diseases
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Glycogen Storage Disease

Central Nervous System Diseases
Glycogen Storage Disease Type II
Brain Diseases, Metabolic, Inborn
Metabolic disorder
Brain Diseases
Brain Diseases, Metabolic

Additional relevant MeSH terms:

Lysosomal Storage Diseases, Nervous System
Nervous System Diseases
Carbohydrate Metabolism, Inborn Errors

ClinicalTrials.gov processed this record on January 16, 2009