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NCT00515398 Clinical Trial

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 Details — Status: Completed

Administrative data
NCT number NCT00515398
Other study ID # POM-CL-001
Secondary ID
Status Completed
Phase N/A
First received August 10, 2007
Last updated June 4, 2008
Start date August 2007
Est. completion date January 2008

Study information
Verified date June 2008
Source Amicus Therapeutics
Contact n/a
Is FDA regulated No
Health authority United States: Institutional Review Board
Study type Observational

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.

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.

Recruitment information / eligibility
Status Completed
Enrollment 30
Est. completion date January 2008
Est. primary completion date January 2008
Accepts healthy volunteers No
Gender Both
Age group N/A and older
Eligibility 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

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

Related Conditions & MeSH terms

Intervention

Other:
• Observation
Ex vivo administration of AT2220

Locations
Country Name City State
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 Washington University St. Louis Missouri

Sponsors (1)
Lead Sponsor Collaborator
Amicus Therapeutics

Country where clinical trial is conducted

United States, 

Outcome
Type Measure Description Time frame Safety issue
Primary 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 No
Secondary To study biomarkers associated with Pompe Disease and study the correlation between biomarkers and clinical disease state of patients with Pompe disease 1 week No
See also
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Completed NCT02240407 - Re-administration of Intramuscular AAV9 in Patients With Late-Onset Pompe Disease Phase 1
Completed NCT05073783 - A Study to Assess the Safety of Myozyme® and of Aldurazyme® in Male and Female Participants of Any Age Group With Pompe Disease or With Mucopolysaccharidosis Type I (MPS I) in a Home-care Setting
Active, not recruiting NCT04093349 - A Gene Transfer Study for Late-Onset Pompe Disease (RESOLUTE) Phase 1/Phase 2
Completed NCT02363153 - Diet and Exercise in Pompe Disease N/A