Auto-antibodies Prevalence and CD1 Role in Gaucher Disease

Study Overview
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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

Official Title
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Prevalence of Autoantibodies in the Gaucher Disease and the Role of CD1 Molecules in Immune Manifestations of This Disease

Conditions
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Gaucher Disease

Intervention / Treatment
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* Genetic: genetic analyses


Participation Criteria
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Eligibility Criteria
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for GD1 patients 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

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| gaucher disease type 1<br>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: genetic analyses<br> <br> |
| Control<br>healthy subjects intervention: genetic analyses | Genetic: genetic analyses<br> <br> |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Number of Patients With GD Diagnosis Confirmed by : Enzyme Testing of acidβ-glucosidase Activity Activity <15% in Blood Leucocytes Completed When Necsssary by GB1 Mutation Analyses (Analyses From Samples) | acidβ-glucosidase enzyme testing : a lower than 15% of mean normal activity is considered to be diagnostic. Decreased enzyme levels will often be confirmed by genetic testing. Numerous different mutations occur; GB1 mutation analyses is sometimes necessary to confirm the diagnosis. | baseline | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Number of Patients With : Splenectomy and/or Bone Events and/or Pulmonary Hypertension and/or Specific Treatment and Non-specific (Medical History,Physiological Parameters and Questionnaire) | data available from medical record of the patients | Baseline | 
| Number of Patients With : Photosensitivity and/or Raynaud Phenomenon and/or Sicca Syndrome and/or Arthralgia and/or Arthritis and/or Thrombosis (Medical History and Questionnaire) | Features usually associated with auto immune disease- data available from medical record of the patients | Baseline | 
| Number of Patients With : Antinuclear and/or Anti-SSa and/or Anti-SSb and/or Anti-RNP and/or Anti-DNA and/or Anti-Sm and/or Anticardiolipid and/or Anti β2Gp1 and/or Antiganglioside Autoantibodies (Genetics Analyses From Blood Samples) | data available from biological analyses (blood samples) | baseline |