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Study to Evaluate Blood Cell Lines From Patients With Gaucher Disease

Primary Purpose

Gaucher Disease

Status
Completed
Phase
Locations
United States
Study Type
Observational
Intervention
Blood sample
Sponsored by
Amicus Therapeutics
About
Eligibility
Locations
Outcomes
Full info

About this trial

This is an observational trial for Gaucher Disease focused on measuring Gaucher Disease, Gaucher Disease, Type 1, Gaucher Disease, Type 2, Gaucher Disease, Type 3, Neuronopathic Gaucher Disease, Non-Neuronopathic Gaucher Disease, Lysosomal Storage Disease, Metabolism, Inborn Errors, Metabolic Diseases, Sphingolipidoses, Genetic Diseases, Inborn

Eligibility Criteria

undefined - undefined (Child, Adult, Older Adult)All SexesDoes not accept healthy volunteers

Inclusion Criteria: Willing and able to provide written informed consent by subject or legal guardian Male or female of any age Confirmed diagnosis of Gaucher disease with known genotype 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 Available medical records for collection of retrospective clinical information Exclusion Criteria: Received any investigational product within 30 days prior to study entry Other significant disease or be otherwise unsuitable for the study, as determined by the investigator

Sites / Locations

  • University of California - San Francisco
  • University Research Foundation for Lysosomal Storage Diseases, Inc.
  • Emory University Lysosomal Storage Disease Center
  • National Institute of Neurological Disorders and Stroke, NIH
  • New York University School of Medicine, Neurogenetics Department
  • Lysosomal Disease Center, Cincinnati Children's Hospital
  • Children's Hospital of Philadelphia

Outcomes

Primary Outcome Measures

Secondary Outcome Measures

Full Information

First Posted
July 10, 2006
Last Updated
August 17, 2010
Sponsor
Amicus Therapeutics
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1. Study Identification

Unique Protocol Identification Number
NCT00351156
Brief Title
Study to Evaluate Blood Cell Lines From Patients With Gaucher Disease
Official Title
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
Study Type
Observational

2. Study Status

Record Verification Date
August 2010
Overall Recruitment Status
Completed
Study Start Date
July 2006 (undefined)
Primary Completion Date
March 2007 (Actual)
Study Completion Date
March 2007 (Actual)

3. Sponsor/Collaborators

Name of the Sponsor
Amicus Therapeutics

4. Oversight

5. Study Description

Brief Summary
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.
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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Gaucher Disease
Keywords
Gaucher Disease, Gaucher Disease, Type 1, Gaucher Disease, Type 2, Gaucher Disease, Type 3, Neuronopathic Gaucher Disease, Non-Neuronopathic Gaucher Disease, Lysosomal Storage Disease, Metabolism, Inborn Errors, Metabolic Diseases, Sphingolipidoses, Genetic Diseases, Inborn

7. Study Design

Enrollment
50 (false)
Biospecimen Retention
Samples With DNA
Biospecimen Description
Blood

8. Arms, Groups, and Interventions

Intervention Type
Procedure
Intervention Name(s)
Blood sample

10. Eligibility

Sex
All
Accepts Healthy Volunteers
No
Eligibility Criteria
Inclusion Criteria: Willing and able to provide written informed consent by subject or legal guardian Male or female of any age Confirmed diagnosis of Gaucher disease with known genotype 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 Available medical records for collection of retrospective clinical information Exclusion Criteria: Received any investigational product within 30 days prior to study entry Other significant disease or be otherwise unsuitable for the study, as determined by the investigator
Study Population Description
Patients with Gaucher disease
Sampling Method
Non-Probability Sample
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Karin Ludwig, M.D.
Organizational Affiliation
Amicus Therapeutics, Inc.
Official's Role
Study Director
Facility Information:
Facility Name
University of California - San Francisco
City
San Francisco
State/Province
California
ZIP/Postal Code
94143
Country
United States
Facility Name
University Research Foundation for Lysosomal Storage Diseases, Inc.
City
Coral Springs
State/Province
Florida
ZIP/Postal Code
33065
Country
United States
Facility Name
Emory University Lysosomal Storage Disease Center
City
Decatur
State/Province
Georgia
ZIP/Postal Code
30033
Country
United States
Facility Name
National Institute of Neurological Disorders and Stroke, NIH
City
Bethesda
State/Province
Maryland
ZIP/Postal Code
20892
Country
United States
Facility Name
New York University School of Medicine, Neurogenetics Department
City
New York
State/Province
New York
ZIP/Postal Code
10016
Country
United States
Facility Name
Lysosomal Disease Center, Cincinnati Children's Hospital
City
Cincinnati
State/Province
Ohio
ZIP/Postal Code
45229
Country
United States
Facility Name
Children's Hospital of Philadelphia
City
Philadelphia
State/Province
Pennsylvania
ZIP/Postal Code
19104
Country
United States

12. IPD Sharing Statement

Learn more about this trial

Study to Evaluate Blood Cell Lines From Patients With Gaucher Disease

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