Study to Evaluate Blood Cell Lines From Patients With Gaucher Disease

August 17, 2010 updated by: Amicus Therapeutics

A Multicenter Study to Evaluate and Characterize the Ex Vivo Effect of Pharmacological Chaperone Therapy in Blood Cell Lines Derived From Patients With Gaucher Disease

The purpose of this study is to learn more about Gaucher disease. The information we collect from medical histories and a blood sample from people with Gaucher disease may help us pinpoint certain things that are different between people who have Gaucher disease and people who do not have Gaucher disease. This information may be useful in the future to help find new treatments for Gaucher disease.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Detailed Description

This study is designed to evaluate the ex vivo response to pharmacological chaperone therapy by testing blood samples from previously treated and untreated patients with Gaucher disease. The study will include patients with non-neuropathic Gaucher disease (type I) and neuropathic Gaucher disease (types II and/or III).

All subjects will participate in one study visit. Clinical information will be collected retrospectively from medical records. Information collected will include Gaucher disease diagnosis and history, medical history, family history, assessments of clinical severity, and genotype. A blood sample will be collected and various cells will be isolated for laboratory testing and research.

Study Type

Observational

Enrollment

50

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
    • California
      • San Francisco, California, United States, 94143
        • University of California - San Francisco
    • Florida
      • Coral Springs, Florida, United States, 33065
        • University Research Foundation for Lysosomal Storage Diseases, Inc.
    • Georgia
      • Decatur, Georgia, United States, 30033
        • Emory University Lysosomal Storage Disease Center
    • Maryland
      • Bethesda, Maryland, United States, 20892
        • National Institute of Neurological Disorders and Stroke, NIH
    • New York
      • New York, New York, United States, 10016
        • New York University School of Medicine, Neurogenetics Department
    • Ohio
      • Cincinnati, Ohio, United States, 45229
        • Lysosomal Disease Center, Cincinnati Children's Hospital
    • Pennsylvania
      • Philadelphia, Pennsylvania, United States, 19104
        • Children's Hospital of Philadelphia

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

  • ADULT
  • OLDER_ADULT
  • CHILD

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Patients with Gaucher disease

Description

Inclusion Criteria:

  1. Willing and able to provide written informed consent by subject or legal guardian
  2. Male or female of any age
  3. Confirmed diagnosis of Gaucher disease with known genotype
  4. Clinically stable and either treatment naïve or on a stable dose of enzyme replacement therapy and/or substrate reduction therapy for at least 6 months prior to study entry
  5. Available medical records for collection of retrospective clinical information

Exclusion Criteria:

  1. Received any investigational product within 30 days prior to study entry
  2. Other significant disease or be 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?

Collaborators and Investigators

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

Sponsor

Amicus Therapeutics

Investigators

  • Study Director: Karin Ludwig, M.D., Amicus Therapeutics, Inc.

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

July 1, 2006

Primary Completion (ACTUAL)

March 1, 2007

Study Completion (ACTUAL)

March 1, 2007

Study Registration Dates

First Submitted

July 10, 2006

First Submitted That Met QC Criteria

July 10, 2006

First Posted (ESTIMATE)

July 12, 2006

Study Record Updates

Last Update Posted (ESTIMATE)

August 19, 2010

Last Update Submitted That Met QC Criteria

August 17, 2010

Last Verified

August 1, 2010

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • GAU-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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