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

Gaucher Disease Clinical Trial

— MGMC  

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01439607
• Other study ID #: P081102
• Status: Completed
• Phase: N/A
• First received: June 22, 2011
• Last updated: May 22, 2014
• Start date: December 2009
• Est. completion date: March 2012

Study information

• Verified date: April 2014
• Source: Assistance Publique - Hôpitaux de Paris
• Contact: n/a
• Is FDA regulated: No
• Health authority: France: Afssaps - Agence française de sécurité sanitaire des produits de santé (Saint-Denis)
• Study type: Interventional

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 30
• Est. completion date: March 2012
• Est. primary completion date: February 2012
• Accepts healthy volunteers: No
• Gender: Both
• Age group: 18 Years and older

Eligibility

Inclusion Criteria:

• age > 18 years

• Gaucher disease

• clinical examination written consent

Exclusion Criteria:

• pregnancy

• HIV seropositive

• contraindication to bone marrow sampling

Study Design

Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Basic Science

Related Conditions & MeSH terms

• Gaucher Disease

Intervention

Other:
• Bone marrow and blood sampling
Bone marrow and blood sampling

Locations

Country	Name	City	State
France	Bertrand Arnulf	Paris

Sponsors (1)

Lead Sponsor	Collaborator
Assistance Publique - Hôpitaux de Paris

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	stem cells		day 1	No