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Related Experiment Video

Updated: Oct 18, 2025

Establishment of a Clinic-based Biorepository
07:50

Establishment of a Clinic-based Biorepository

Published on: May 29, 2017

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HAE patient self-sampling for biomarker establishment.

Toni M Förster1,2, Markus Magerl3, Marcus Maurer3

  • 1CENTOGENE GmbH, Rostock, Germany. toni_foerster@web.de.

Orphanet Journal of Rare Diseases
|September 29, 2021
PubMed
Summary

The Hereditary Angioedema Kininogen Assay (HAEKA) study is developing new biomarkers for diagnosing Hereditary Angioedema (HAE). This innovative approach uses at-home blood sampling to track disease activity and potentially prevent attacks.

Keywords:
BiomarkerCleaved high molecular weight KininogenHereditary angioedemaObservational clinical studySelf-sampling

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Area of Science:

  • Genetics and immunology
  • Biochemical analysis
  • Clinical diagnostics

Background:

  • Hereditary Angioedema (HAE) is a genetic disorder causing frequent swelling attacks.
  • Current diagnostics for HAE may miss subtypes with normal C1-Inhibitor levels.
  • Novel biomarkers are needed for accurate HAE diagnosis and personalized treatment.

Purpose of the Study:

  • To measure cleaved High Molecular Weight Kininogen (HKa) and other metabolites during HAE attacks.
  • To identify and validate biomarkers for monitoring HAE disease activity.
  • To develop an innovative diagnostic approach for HAE.

Main Methods:

  • The Hereditary Angioedema Kininogen Assay (HAEKA) study enrolled 100 participants.
  • Dried blood spot (DBS) samples collected every 3 months and during HAE attacks via at-home self-sampling.
  • Metabolite analysis using liquid chromatography ion mobility high resolution mass spectrometry (LC/IM-QToF MS).

Main Results:

  • 41 patients enrolled across 5 German sites as of October 2020.
  • Successful collection of 90 routine and 286 attack blood samples.
  • High patient satisfaction with the convenience and reproducibility of at-home self-sampling.

Conclusions:

  • The HAEKA study design facilitates clinical research during pandemic restrictions.
  • The study aims to identify biomarkers for monitoring HAE disease activity.
  • Findings may enable proactive medication to prevent HAE attacks.