Clinical Trial: Auto-antibodies Prevalence and CD1 Role in Gaucher Disease

Study Status: Completed
Recruit Status: Completed
Study Type: Observational




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

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