Project: IMAGINE

ldentification of mutations in genes of patients with recurrent idiopathic and hereditary angioedema

This explorative international, multi-center, study aims to identify known and novel mutations in patients with bradykinin-mediated recurrent angioedema, by use of dried blood spot analysis. We hope this project will spread globally and to help improve patient care.

IMAGINE is a project of the GA2LEN HAEi network of Angioedema Centers of Reference and Excellence (ACARE). The ACARE network encourages all of its member physicians as well as non-ACARE physicians who treat patients with HAE to participate in this project.

Study type:

  • Questionnaire (physician and patient)
  • Whole genome sequencing (EDTA blood) via dried blood spot cards

Aims:
Primary Objective: To identify genetic mutations and biomarkers in clinically well characterized patients with recurrent idiopathic angioedema in order to gain more insights into the pathomechanisms and genetic drivers of rare forms of angioedema.

Secondary Objectives: To evaluate correlations between clinical manifestations of recurrent idiopathic angioedema and mutations and biomarkers.

Project lead:
Thomas Buttgereit and Markus Magerl

Steering Committee:
Kiran Godse, Asli Gelincik, Margarida Gonçalo, Marcus Maurer, Anete S Grumach, Marc Riedl, Yuxiang Zhi

Status:
pilot phase until 09/2021

Coauthorship:

  • 20 patients included = one authorship
  • Addititional 40 patients included = second authorship
  • Additional 80 patients included = third authorship
  • All Steering Committee members are authors (independent of number of patients included)
  • We can further specify the completeness of data required for patients to count towards authorship

For more information please have a look into our member area or contact the project lead: thomas.buttgereit@charite.de