Auto-antibodies Prevalence and CD1 Role in Gaucher Disease

Study Results

Results available

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Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

60 participants

Study Classification

OBSERVATIONAL

Study Start Date

2010-01-31

Study Completion Date

2015-12-31

Brief Summary

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Hypergammaglobulinaemia is frequently observed in type 1 Gaucher disease (GD1), being either polyclonal or monoclonal gammopathies. Polyclonal hypergammaglobulinemia may be related to the presence of autoantibodies. The clinical significance of such antibodies is questioned in Gaucher disease (GD), as some cases of immunologic thrombocytopenia and autoimmune hemolytic anemia have also been reported.

Objectives:

To evaluate the prevalence of autoantibodies and autoimmune diseases in GD1 patients, we conducted a multicenter national study. The investigators investigated whether there was a link between splenectomy, genotype, therapeutic options and the presence of these autoantibodies.They also investigated whether there was a correlation with some clinical manifestations of GD1

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Detailed Description

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Conditions

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Gaucher Disease

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

PROSPECTIVE

Study Groups

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gaucher disease type 1

Inclusion criteria:

* Adult patients \>= 18 years old
* Gaucher disease type 1, proved by low betaglucosidase, with or without treatment
* Patients must have read, understood and signed informed consent. intervention : genetic analyses

genetic analyses

Intervention Type GENETIC

Control

healthy subjects intervention: genetic analyses

genetic analyses

Intervention Type GENETIC

Interventions

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genetic analyses

Intervention Type GENETIC

Eligibility Criteria

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Inclusion Criteria

* Adult patients \>= 18 years old
* Gaucher disease type 1, proved by low betaglucosidase, with or without treatment
* Patients must have read, understood and signed informed consent.

Exclusion Criteria

* Under 18 years old
* Pregnant or breast-feeding
* Patients under administrative control
* Prisoners
* Patients without social rights
* Emergency hospitalization

Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes