Cellular and Molecular Mechanisms Governing Bone Marrow Stem Cells in Gaucher Disease (MGMC)
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Purpose
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.
| Condition | Intervention |
|---|---|
|
Gaucher Disease |
Other: Bone marrow and blood sampling |
| Study Type: | Interventional |
| Study Design: | Intervention Model: Single Group Assignment Masking: Open Label Primary Purpose: Basic Science |
| Official Title: | Cellular and Molecular Mechanisms Governing Bone Marrow Stem Cells, Macrophages and Plasma Cell Biology in Gaucher Disease. |
- stem cells [ Time Frame: day 1 ] [ Designated as safety issue: No ]
| Estimated Enrollment: | 30 |
| Study Start Date: | December 2009 |
| Estimated Study Completion Date: | March 2013 |
| Estimated Primary Completion Date: | March 2013 (Final data collection date for primary outcome measure) |
| Arms | Assigned Interventions |
|---|---|
| Experimental: Bone marrow and blood sampling |
Other: Bone marrow and blood sampling
Bone marrow and blood sampling
Other Name: Bone marrow and blood sampling
|
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.
Eligibility| Ages Eligible for Study: | 18 Years and older |
| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | No |
Inclusion Criteria:
- age > 18 years
- Gaucher disease
- clinical examination written consent
Exclusion Criteria:
- pregnancy
- HIV seropositive
- contraindication to bone marrow sampling
Contacts and Locations| Contact: Bertrabd Arnulf, MD | +33(0) 1 42 49 96 95 | bertrand.arnulf@sls.aphp.fr |
| France | |
| Bertrand Arnulf | Recruiting |
| Paris, France, 75010 | |
| Contact: Bertrand Arnulf, MD +33 (0) 1 42 49 96 95 bertrand.arnulf@sls.aphp.fr | |
| Principal Investigator: | Bertrabd Arnulf, MD | Assistance Publique - Hôpitaux de Paris |
More Information
No publications provided
| Responsible Party: | Assistance Publique - Hôpitaux de Paris |
| ClinicalTrials.gov Identifier: | NCT01439607 History of Changes |
| Other Study ID Numbers: | P081102 |
| Study First Received: | June 22, 2011 |
| Last Updated: | November 19, 2012 |
| Health Authority: | France: Afssaps - Agence française de sécurité sanitaire des produits de santé (Saint-Denis) |
Keywords provided by Assistance Publique - Hôpitaux de Paris:
|
Gaucher disease |
Additional relevant MeSH terms:
|
Brain Diseases, Metabolic, Inborn Gaucher Disease Sphingolipidoses Lysosomal Storage Diseases, Nervous System Brain Diseases, Metabolic Brain Diseases Central Nervous System Diseases Nervous System Diseases |
Metabolism, Inborn Errors Genetic Diseases, Inborn Lipidoses Lipid Metabolism, Inborn Errors Lysosomal Storage Diseases Metabolic Diseases Lipid Metabolism Disorders |
ClinicalTrials.gov processed this record on May 23, 2013