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

June 4, 2008 updated by: Amicus Therapeutics

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

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.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

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 Type

Observational

Enrollment (Actual)

30

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

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

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Patients with Pompe disease

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

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

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
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
1 week

Secondary Outcome Measures

Outcome Measure
Time Frame
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
1 week

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Amicus Therapeutics

Investigators

  • Study Director: Irina Kline, MD, Amicus Therapeutics

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

August 1, 2007

Primary Completion (Actual)

January 1, 2008

Study Completion (Actual)

January 1, 2008

Study Registration Dates

First Submitted

August 10, 2007

First Submitted That Met QC Criteria

August 10, 2007

First Posted (Estimate)

August 13, 2007

Study Record Updates

Last Update Posted (Estimate)

June 5, 2008

Last Update Submitted That Met QC Criteria

June 4, 2008

Last Verified

June 1, 2008

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • POM-CL-001

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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