The application of biomarkers in hereditary transthyretin amyloidosis – an ongoing research project on bulgarian patients

Authors

  • Z. Pavlova Independent Medico-Diagnostic Laboratory Genome Center „Bulgaria”, Sofia, Bulgaria; Genetic Medico-Diagnostic Laboratory „Genica” - Sofia
  • A. Ormandjieva Independent Medico-Diagnostic Laboratory Genome Center „Bulgaria”, Sofia, Bulgaria; Genetic Medico-Diagnostic Laboratory „Genica” - Sofia https://orcid.org/0000-0002-3687-9390
  • C. Georgiev ULB Neuroscience Institute, Université libre de Bruxelles (ULB), Brussels, Belgium
  • O. Asenov UMHAT "Alexandrovska"; Medical university – Sofia
  • A. Taneva UMHAT "Alexandrovska"; Medical university – Sofia https://orcid.org/0000-0003-1840-9552
  • T. Chamova UMHAT "Alexandrovska"; Medical university – Sofia https://orcid.org/0000-0001-5142-5007
  • I. Tournev UMHAT "Alexandrovska"; Medical university – Sofia; New Bulgarian University - Sofia, Bulgaria https://orcid.org/0000-0002-2399-9297
  • Albena Todorova Independent Medico-Diagnostic Laboratory Genome Center „Bulgaria”, Sofia, Bulgaria; Genetic Medico-Diagnostic Laboratory „Genica” - Sofia; Medical university – Sofia https://orcid.org/0000-0002-3236-9190

DOI:

https://doi.org/10.67667/NEU.v25i1.158

Keywords:

neurofilaments, hereditary transthyretin amyloidosis, vATTR, NfL

Abstract

The current research project is being conducted in IMDL Genome Center Bulgaria / GMDL Genica (part of the Expert Centers for ATTR in Bulgaria1). It aims at advancing the accurate prognosis and monitoring of the onset and progression of hereditary transthyretin amyloidosis (vATTR) in Bulgarian Glu89Gln positive asymptomatic and symptomatic polyneuropathy stage I patients on Tafamidis by investigating the biomarker potential of NfL. Furthermore, our goal is to evaluate other better-known biomarkers for cardiac affection such as hs-cTnT, NT-ProBNP and eGFR. In so doing, our multidisciplinary team aims to improve the processes of timely diagnosis and therapy of the Bulgarian vATTR patient community.

References

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Published

30.04.2024

How to Cite

Pavlova, Z., Ormandjieva, A., Georgiev, C., Asenov, O., Taneva, A., Chamova, T., … Todorova, A. (2024). The application of biomarkers in hereditary transthyretin amyloidosis – an ongoing research project on bulgarian patients. Bulgarian Neurology, 25(1), 19–21. https://doi.org/10.67667/NEU.v25i1.158

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