Auto-antibodies Prevalence and CD1 Role in Gaucher Disease

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

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 Overview

• Status: Completed
• Conditions: Gaucher Disease
• Intervention / Treatment: Genetic: genetic analyses

• Study Type: Observational
• Enrollment (Actual): 60

Contacts and Locations

Study Locations

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

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: Yes
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

40 GD1 patients and 20 healthy volunteers (control group) were included in the study.

Description

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

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
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: genetic analyses
Control; healthy subjects intervention: genetic analyses	Genetic: genetic analyses

What is the study measuring?

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

Collaborators and Investigators

• Sponsor: Hospital St. Joseph, Marseille, France
• Investigators: Principal Investigator: Christine Serratrice, MD, St joseph France

Study record dates

Study Major Dates

• Study Start: January 1, 2010
• Primary Completion (Actual): December 1, 2015
• Study Completion (Actual): December 1, 2015

Study Registration Dates

• First Submitted: January 5, 2016
• First Submitted That Met QC Criteria: January 7, 2016
• First Posted (Estimate): January 8, 2016

Study Record Updates

• Last Update Posted (Estimate): March 23, 2016
• Last Update Submitted That Met QC Criteria: February 23, 2016
• Last Verified: February 1, 2016

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Lipid Metabolism Disorders; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Lipidoses; Lipid Metabolism, Inborn Errors; Gaucher Disease
• Other Study ID Numbers: ID-RCB 2010-A00315-3

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO