NCT02650219

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

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 60 (actual)
• Sponsor: Hospital St. Joseph, Marseille, France · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Accepted

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

Conditions

• Gaucher Disease

Interventions

Type	Name	Description
GENETIC	genetic analyses

Timeline

• Start date: 2010-01-01
• Primary completion: 2015-12-01
• Completion: 2015-12-01
• First posted: 2016-01-08
• Last updated: 2016-03-23
• Results posted: 2016-01-08

Locations

11 sites across 1 country: France