CHAPLEOMICS- Collaboration on Pharmacodynamics and Pharmacokinetics of Eculizumab in CHAPLE Disease

Özen A. O. (Executive) , Barış S. , Aydıner E. , Lenardo M. J. , Harari O., Ni Y.

Other Supported Projects, 2019 - 2021

  • Project Type: Other Supported Projects
  • Begin Date: September 2019
  • End Date: March 2021

Project Abstract

Rationale for this CES study

CHAPLE syndrome is a newly discovered disease, and little is known regarding its pathogenesis.  This study is our 1st effort towards identifying biomarker signatures of this disease, understanding disease mechanisms and the PK/PD relationships for an anti-C5 therapy.

Study Description:

This is a retrospective study using banked samples collected from CHAPLE patients before and after treatment with eculizumab, age- and gender-matched healthy controls and unaffected parents. The study will be conducted collaboratively with Dr. Ahmet Ozen (Marmara University), Dr. Michael Lenardo (Center for Human Immunology, NIH)  and Regeneron Pharmaceuticals Inc. We plan to have a joint publication when the study is completed.  All data collected (including raw data) will be shared among all three participating parties.


·       To identify the biomarker signatures of CHAPLE that may identify key mediators of disease and additional novel therapeutic targets. Key focus includes biomarkers of complement activation, inflammation and thrombosis.

·       To understand the relationships between eculizumab concentration, target concentration (total C5) and complement function (CH50, AH50)