Cellular and Molecular Mechanisms Governing Bone Marrow Stem Cells in Gaucher Disease (MGMC)
Primary Purpose
Gaucher Disease
Status
Completed
Phase
Not Applicable
Locations
France
Study Type
Interventional
Intervention
Bone marrow and blood sampling
Sponsored by
About this trial
This is an interventional basic science trial for Gaucher Disease focused on measuring Gaucher disease
Eligibility Criteria
Inclusion Criteria:
- age > 18 years
- Gaucher disease
- clinical examination written consent
Exclusion Criteria:
- pregnancy
- HIV seropositive
- contraindication to bone marrow sampling
Sites / Locations
- Bertrand Arnulf
Arms of the Study
Arm 1
Arm Type
Experimental
Arm Label
Bone marrow and blood sampling
Arm Description
Outcomes
Primary Outcome Measures
stem cells
Secondary Outcome Measures
Full Information
NCT ID
NCT01439607
First Posted
June 22, 2011
Last Updated
May 22, 2014
Sponsor
Assistance Publique - Hôpitaux de Paris
1. Study Identification
Unique Protocol Identification Number
NCT01439607
Brief Title
Cellular and Molecular Mechanisms Governing Bone Marrow Stem Cells in Gaucher Disease
Acronym
MGMC
Official Title
Cellular and Molecular Mechanisms Governing Bone Marrow Stem Cells, Macrophages and Plasma Cell Biology in Gaucher Disease.
Study Type
Interventional
2. Study Status
Record Verification Date
April 2014
Overall Recruitment Status
Completed
Study Start Date
December 2009 (undefined)
Primary Completion Date
February 2012 (Actual)
Study Completion Date
March 2012 (Actual)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Sponsor
Name of the Sponsor
Assistance Publique - Hôpitaux de Paris
4. Oversight
Data Monitoring Committee
No
5. Study Description
Brief Summary
Gaucher disease is an inherited autosomal recessive lysosomal storage disorder caused by the defective activity of the glucocerebrosidase, leading to accumulation of glucocerebroside particularly in cells of the macrophage lineage. Clinical manifestations associate hematological, neurological and bone disorders.
Detailed Description
Gaucher disease is an inherited autosomal recessive lysosomal storage disorder caused by the defective activity of the glucocerebrosidase, leading to accumulation of glucocerebroside particularly in cells of the macrophage lineage. Clinical manifestations associate hematological, neurological and bone disorders.
In this project, the investigators aimed to study the cellular and molecular mechanisms governing the biology of various cell populations of the bone marrow and blood in these patients in order to define their potential role in the physiopathology of the disease. The main research topics the investigators plan will then be focused on characterization and functional analysis of hematopoietic stem cells, mesenchymal stem cells (with a special focus on osteogenic differentiation), macrophages and osteoclastic differentiation, B lymphocytes and plasma cells.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Gaucher Disease
Keywords
Gaucher disease
7. Study Design
Primary Purpose
Basic Science
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
30 (Actual)
8. Arms, Groups, and Interventions
Arm Title
Bone marrow and blood sampling
Arm Type
Experimental
Intervention Type
Other
Intervention Name(s)
Bone marrow and blood sampling
Intervention Description
Bone marrow and blood sampling
Primary Outcome Measure Information:
Title
stem cells
Time Frame
day 1
10. Eligibility
Sex
All
Minimum Age & Unit of Time
18 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
Inclusion Criteria:
age > 18 years
Gaucher disease
clinical examination written consent
Exclusion Criteria:
pregnancy
HIV seropositive
contraindication to bone marrow sampling
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Bertrabd Arnulf, MD
Organizational Affiliation
Assistance Publique - Hôpitaux de Paris
Official's Role
Principal Investigator
Facility Information:
Facility Name
Bertrand Arnulf
City
Paris
ZIP/Postal Code
75010
Country
France
12. IPD Sharing Statement
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Cellular and Molecular Mechanisms Governing Bone Marrow Stem Cells in Gaucher Disease
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