Auto-antibodies Prevalence and CD1 Role in Gaucher Disease

Hospital St. Joseph, Marseille, France60 enrolled

Overview

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

Study Type

OBSERVATIONAL

Enrollment

Conditions

Gaucher Disease

Interventions

genetic analysesGENETIC

Eligibility

Sex: ALL

Medical Language ↔ Plain English

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

Locations (11)

Internal Medicine Department, Hôpital Minjoz,

Besançon, France

Intensive Care Department, Hôpital Pellegrin,

Bordeaux, France

Internal Medicine Department, Hôpital Beaujon,

Clichy, France

Internal Medicine and Clinical Immunology Department, CHU,

Dijon, France

Internal Medicine Department, Catholic University,

Lille, France

Internal Medicine Department, CHU, Nantes

Nantes, France

Internal Medicine and Rheumatology Department, Hôpital La Croix Saint Simon,

Paris, France

Internal Medicine Department, CHU la Pitié Salpêtrière,

Paris, France

13 Internal Medicine Department, CHU,

Rouen, France

CHRU de Tours, Université François Rabelais, INSERM 1069,

Tours, France

...and 1 more locations

Outcomes

Primary Outcomes

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.

Time frame: baseline

Secondary Outcomes

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

Time frame: 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

Time frame: 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)

Time frame: baseline