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 buccal swab analysis. We hope this project will spread globally and to improve patient care. It is the follow-up project to IMAGINE, which used dried blood spot analysis and expired in 2023.
IMAGINE 2.0 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.
- Questionnaire (physician and patient)
- Whole genome sequencing (WGS) via buccal swab
- To identify causal genetic mutations and biomarkers in clinically well characterized patients with recurrent (hereditary) idiopathic angioedema in order to gain more insights into the pathomechanisms of rare forms of angioedema
To evaluate correlations between clinical manifestations of recurrent (hereditary) idiopathic angioedema and mutations/biomarkers
Thomas Buttgereit and Markus Magerl
Kiran Godse, Asli Gelincik, Margarida Gonçalo, Marcus Maurer, Anete S Grumach, Marc Riedl, Yuxiang Zhi
Global Rollout (until April 2025)
- 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 project-related documents, please see our member area or contact the project lead: firstname.lastname@example.org