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

NCT ID: NCT01439607

Last Updated: 2014-05-23

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Clinical Phase

NA

Total Enrollment

30 participants

Study Classification

INTERVENTIONAL

Study Start Date

2009-12-31

Study Completion Date

2012-03-31

Brief Summary

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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

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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

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Gaucher Disease

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

Primary Study Purpose

BASIC_SCIENCE

Blinding Strategy

NONE

Study Groups

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Bone marrow and blood sampling

Group Type EXPERIMENTAL

Bone marrow and blood sampling

Intervention Type OTHER

Bone marrow and blood sampling

Interventions

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Bone marrow and blood sampling

Bone marrow and blood sampling

Intervention Type OTHER

Eligibility Criteria

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Inclusion Criteria

* age \> 18 years
* Gaucher disease
* clinical examination written consent

Exclusion Criteria

* pregnancy
* HIV seropositive
* contraindication to bone marrow sampling
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Assistance Publique - Hôpitaux de Paris

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Bertrabd Arnulf, MD

Role: PRINCIPAL_INVESTIGATOR

Assistance Publique - Hôpitaux de Paris

Locations

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Bertrand Arnulf

Paris, Paris, France

Site Status

Countries

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France

Other Identifiers

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P081102

Identifier Type: -

Identifier Source: org_study_id

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