Investigation of complement activation and autoantibody formation in lysosomal storage diseases: Fabry disease and Gaucher's disease

Recruiting

• Conditions: Gaucher's diseaseFabry disease; E75.2; Other sphingolipidosis

• Registration Number: DRKS00022211
• Lead Sponsor: eleva GmbH

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2020-07-09
• Last Update Posted: 19 August 2024

Recruitment & Eligibility

• Status: Recruiting
• Sex: All
• Target Recruitment: 150

Inclusion Criteria

Patients with Fabry disease (male) with Lyso-Gb3 value of >0.5 nmol/l, which are treatment-naive or recieve a enzyme replacement therapy (Replagal or Fabrazyme).

Patients with Gaucher disease type I (male and female), which are treatment-naive or recieve a enzyme replacement therapy (Cerezyme, VPRIV or Elelyso).

Exclusion Criteria

Excluded from the study are patients with chronic inflammatory diseases associated with the complement system, such as systemic lupus erythematosus (SLE), sepsis or ANCA-associated vasculitis, as well as patients with a bacterial or viral infection.

Patients who have been administered another form of therapy prior to ERT.

Study & Design

• Study Type: observational
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Investigation of the release of the complement cleavage products C3a and C5a in the serum of patients with Gaucher disease type 1 and classical Fabry disease.<br>Investigation of the formation of autoantibodies against b-GL1 / Lyso-GL1 in the serum of patients with Gaucher disease type 1 and autoantibodies against Gb3 / Lyso-Gb3 in the serum of patients with classical Fabry disease.<br><br>

Secondary Outcome Measures

Name	Time	Method
Evaluation of C3a, C5a and autoantibodies in serum from patients with Gaucher type I as well as classical Fabry as possible biomarkers for activity and severity of disease compared to healthy controls.<br><br>Evaluation of C3a, C5a and autoantibodies as a parameter to assess the success of an enzyme replacement therapy in Gaucher type I and classical Fabry patients compared to treatment-naive patients.<br>