Auto-antibodies Prevalence and CD1 Role in Gaucher Disease

Completed

Brief Summary: 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

Recruitment & Eligibility

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

Arm && Interventions

Group	Intervention	Description
Control	genetic analyses	healthy subjects intervention: genetic analyses
gaucher disease type 1	genetic analyses	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

Primary Outcome Measures

Name	Time	Method
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)	baseline	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.

Secondary Outcome Measures

Name	Time	Method
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)	Baseline	data available from medical record of the patients
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)	Baseline	Features usually associated with auto immune disease- data available from medical record of the patients
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)	baseline	data available from biological analyses (blood samples)

Locations (11): Internal Medicine Department, Hôpital Minjoz,
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Besançon, France
Intensive Care Department, Hôpital Pellegrin,
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Bordeaux, France
Internal Medicine Department, Hôpital Beaujon,
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Clichy, France
Internal Medicine and Clinical Immunology Department, CHU,
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Dijon, France
Internal Medicine Department, Catholic University,
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Lille, France
Internal Medicine and Rheumatology Department, Hôpital La Croix Saint Simon,
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Paris, France
Internal Medicine Department, CHU, Nantes
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Nantes, France
Internal Medicine Department, CHU la Pitié Salpêtrière,
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Paris, France
13 Internal Medicine Department, CHU,
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Rouen, France
CHRU de Tours, Université François Rabelais, INSERM 1069,
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Tours, France
Internal Medicine and Immunology Department, CHU Hôpital Brabois,
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Vandoeuvre les Nancy, France