NCT01439607

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

Cellular and Molecular Mechanisms Governing Bone Marrow Stem Cells, Macrophages and Plasma Cell Biology in Gaucher Disease.

• Status: Completed
• Phase: N/A
• Study type: Interventional
• Enrollment: 30 (actual)
• Sponsor: Assistance Publique - Hôpitaux de Paris · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

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.

Conditions

• Gaucher Disease

Interventions

Type	Name	Description
OTHER	Bone marrow and blood sampling	Bone marrow and blood sampling

Timeline

• Start date: 2009-12-01
• Primary completion: 2012-02-01
• Completion: 2012-03-01
• First posted: 2011-09-23
• Last updated: 2014-05-23

Locations

1 site across 1 country: France