Clinical trial NCT02650219: Auto-antibodies Prevalence and CD1 Role in Gaucher Disease
Official title: Prevalence of Autoantibodies in the Gaucher Disease and the Role of CD1 Molecules in Immune Manifestations of This Disease
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Gaucher Disease
Lead sponsor: Hospital St. Joseph, Marseille, France
Sponsor class: OTHER
First posted: 2016-01-08
Enrollment: 60
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: CASE_CONTROL
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: 40 GD1 patients and 20 healthy volunteers (control group) were included in the study.

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


Eligibility criteria: 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

Primary outcomes:
measure: 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)
timeFrame: baseline
Secondary outcomes:
measure: 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)
timeFrame: Baseline
measure: 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)
timeFrame: Baseline
measure: 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)
timeFrame: baseline
Other outcomes:
Locations:
city: Besançon
country: France
facility: Internal Medicine Department, Hôpital Minjoz,
city: Bordeaux
country: France
facility: Intensive Care Department, Hôpital Pellegrin,
city: Clichy
country: France
facility: Internal Medicine Department, Hôpital Beaujon,
city: Dijon
country: France
facility: Internal Medicine and Clinical Immunology Department, CHU,
city: Lille
country: France
facility: Internal Medicine Department, Catholic University,
city: Nantes
country: France
facility: Internal Medicine Department, CHU, Nantes
city: Paris
country: France
facility: Internal Medicine and Rheumatology Department, Hôpital La Croix Saint Simon,
city: Paris
country: France
facility: Internal Medicine Department, CHU la Pitié Salpêtrière,
city: Rouen
country: France
facility: 13 Internal Medicine Department, CHU,
city: Tours
country: France
facility: CHRU de Tours, Université François Rabelais, INSERM 1069,
city: Vandoeuvre les Nancy
country: France
facility: Internal Medicine and Immunology Department, CHU Hôpital Brabois,
Study officials:
affiliation: St joseph France
name: Christine Serratrice, MD
role: PRINCIPAL_INVESTIGATOR
References: