Skip to main content
OpenTrials
Completed

NCT Number: NCT02650219

Auto-antibodies Prevalence and CD1 Role in Gaucher 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

Completed

Looking for future studies?

Notify Me

Key information

Conditions

Gaucher Disease Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipidoses Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases Sphingolipidoses

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Internal Medicine Department, Hôpital Minjoz,, Besançon, France

Loading trial locations.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

genetic analyses

Genetic

Primary outcomes

  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 outcomes

  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)

Sponsors and collaborators

Lead sponsor

Hospital St. Joseph, Marseille, France

Other

Registry information

Official study title

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

Important dates

Study start
2010
Primary completion
2015
Study completion
2015
First posted
Jan 8, 2016
Registry last updated
Mar 23, 2016

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Related clinical trials

Published trials that share one or more normalized conditions with this study.