New Analytic Tools for aHUS and C3G Diagnosis

Condition(s) studied

Investigational drug(s) / intervention(s)

C3NEF assay: This assay will consist of a dual test, detecting C3 convertase binding C3NEF autoantibodies and measuring the functional consequence by complement alternative pathway (AP) activity using two distinct ELISA designs: C3NEF detection assay and AP activity assay.

Study summary

This protocol is part of a larger project, COMPRare (COMPlement-mediated Rare kidney diseases), which has been financed on behalf of the EJP RD (European Joint Programme on Rare Diseases) program of EU and is leaded by a scientific consortium from 7 European countries.

The partners (P) of the consortium are:

P1. Radboudumc Amalia Children's Hospital (The Netherlands) P2. Semmelweis University (Hungary) P3. Cordeliers Research Center (France) P4. Max Delbruck Center for Molecular Medicine (Germany) P5. Istituto di Ricerche Farmacologiche Mario Negri (Italy) P6. Lund University (Sweden) P7. Lille University (France)

The general aim of the project is to define new diagnostic tools for complement activation in order to improve patients stratification and follow-up, thereby affecting time and choice of treatment in patients with aHUS and C3G.

Particularly, the specific objectives of the COMPRare are:

* To develop new standardized analytic assays thereby identifying specific complement prognostic biomarkers for early diagnosis, classification, improved monitoring and treatment of patients with aHUS and C3G;
* To in-depth characterize patients' complement abnormalities in blood, in patient-derived cells and in kidney biopsies;
* To identify strategies to classify VUS/LPV
* To find new pathophysiological pathways involved in aHUS and C3G for further improving disease diagnosis, monitoring and treatment.

The results of these studies will form the basis of personalized treatment with existing and upcoming complement inhibitory drugs for these rare complement-mediated kidney diseases.

Eligibility

Primary outcome measure(s)

• Determination of assay sensitivity and specificity — At day 0
  We estimate that 38 VUS/LPV carrying pedigrees should be enough to demonstrate the sensitivity and specificity of the assay for classifying VUS/LPV.

Trial sites (1)

More Mario Negri Institute for Pharmacological Research trials in Italy

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