Gaucher's disease Fabry disease E75.2
Conditions
Interventions
Group 1: Blood is taken from treatment-naïve Gaucher disease patients with type 1 (male and female, 18-70 years) at the study centers. The concentration of complement cleavage products C3a and C5a as
Sponsors
eleva GmbH
Eligibility
Sex/Gender
All
Age
18 Years to 70 Years
Inclusion criteria
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
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.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| 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. 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. | — |
Secondary
| Measure | Time frame |
|---|---|
| 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. 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. | — |
Countries
Germany
Contacts
Public ContactJörg Köhl
Institut für Systemische Entzündungsforschung, Universität zu Lübeck
Outcome results
None listed