Cellular and Molecular Mechanisms Governing Bone Marrow Stem Cells in Gaucher Disease

Not Applicable

Completed

• Conditions: Gaucher Disease

• Registration Number: NCT01439607
• Lead Sponsor: Assistance Publique - Hôpitaux de Paris

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.

Study Timeline

• Study Start: 2009-12
• Study First Submitted: 2011-06-22
• Study First Submitted QC: 2011-09-22
• Study First Posted: 2011-09-23
• Primary Completion: 2012-02
• Study Completion: 2012-03
• Status Verified: 2014-04
• Last Update Submitted: 2014-05-22
• Last Update Posted: 2014-05-23

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 30

Inclusion Criteria

• age > 18 years
• Gaucher disease
• clinical examination written consent

Exclusion Criteria

• pregnancy
• HIV seropositive
• contraindication to bone marrow sampling

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Primary Outcome Measures

Name	Time	Method
stem cells	day 1

Trial Locations

Locations (1)

Bertrand Arnulf; 🇫🇷 Paris, France