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Trial record 5 of 103 for:    Gaucher Disease

Auto-antibodies Prevalence and CD1 Role in Gaucher Disease

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ClinicalTrials.gov Identifier: NCT02650219
Recruitment Status : Completed
First Posted : January 8, 2016
Results First Posted : February 9, 2016
Last Update Posted : March 23, 2016
Sponsor:
Information provided by (Responsible Party):
Christine Serratrice, Hospital St. Joseph, Marseille, France

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


Condition or disease Intervention/treatment
Gaucher Disease Genetic: genetic analyses

Study Type : Observational
Actual Enrollment : 60 participants
Observational Model: Case Control
Time Perspective: Prospective
Official Title: Prevalence of Autoantibodies in the Gaucher Disease and the Role of CD1 Molecules in Immune Manifestations of This Disease
Study Start Date : January 2010
Actual Primary Completion Date : December 2015
Actual Study Completion Date : December 2015


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



Primary Outcome Measures :
  1. 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) [ Time Frame: 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 :
  1. 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) [ Time Frame: Baseline ]
    data available from medical record of the patients

  2. 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) [ Time Frame: Baseline ]
    Features usually associated with auto immune disease- data available from medical record of the patients

  3. 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) [ Time Frame: baseline ]
    data available from biological analyses (blood samples)



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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
40 GD1 patients and 20 healthy volunteers (control group) were included in the study.
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02650219


Locations
France
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
Internal Medicine and Immunology Department, CHU Hôpital Brabois,
Vandoeuvre les Nancy, France
Sponsors and Collaborators
Hospital St. Joseph, Marseille, France
Investigators
Principal Investigator: Christine Serratrice, MD St joseph France

Responsible Party: Christine Serratrice, MD head of internal medicine department, Hospital St. Joseph, Marseille, France
ClinicalTrials.gov Identifier: NCT02650219     History of Changes
Other Study ID Numbers: ID-RCB 2010-A00315-3
First Posted: January 8, 2016    Key Record Dates
Results First Posted: February 9, 2016
Last Update Posted: March 23, 2016
Last Verified: February 2016
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

Additional relevant MeSH terms:
Gaucher Disease
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders
Sphingolipidoses
Metabolism, Inborn Errors
Lipidoses
Lipid Metabolism, Inborn Errors