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

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.

Keywords

• neurofilaments
• hereditary transthyretin amyloidosis
• vATTR
• NfL