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

NCT ID: NCT00515398

Last Updated: 2008-06-05

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

30 participants

Study Classification

OBSERVATIONAL

Study Start Date

2007-08-31

Study Completion Date

2008-01-31

Brief Summary

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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

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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.

Conditions

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Pompe Disease Glycogen Storage Disease Type II

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

CROSS_SECTIONAL

Study Groups

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1

Group 1 (all subjects)

Observation

Intervention Type OTHER

Ex vivo administration of AT2220

Interventions

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Observation

Ex vivo administration of AT2220

Intervention Type OTHER

Eligibility Criteria

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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
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Amicus Therapeutics

INDUSTRY

Sponsor Role lead

Responsible Party

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Amicus Therapeutics

Principal Investigators

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Irina Kline, MD

Role: STUDY_DIRECTOR

Amicus Therapeutics

Locations

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University of Florida

Gainesville, Florida, United States

Site Status

Washington University

St Louis, Missouri, United States

Site Status

Center for Metabolic Disorders

Lake Success, New York, United States

Site Status

Duke University

Durham, North Carolina, United States

Site Status

Countries

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United States

Other Identifiers

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POM-CL-001

Identifier Type: -

Identifier Source: org_study_id