TTR Gene Screening Since the Advent of Biotherapies in France: A Nationwide Retrospective Survey Between 2018 and 2023.

ABSTRACT:

Background

Hereditary transthyretin amyloidosis (ATTRv) is a rare genetic disorder caused by mutations in the TTR gene. Associated with various clinical phenotypes like polyneuropathy and cardiomyopathy, ATTRv has historically had poor outcomes. Recent advances in biotherapies have significantly improved these outcomes. This study aimed to assess the evolution in genetic TTR variant screening since the advent of biotherapies in France in 2018.

Methods

This nationwide retrospective study analyzed data and genetic results from patients who underwent TTR gene sequencing from 2018 to 2023.

Results

16,640 patients were tested during the period studied. There was a 108% increase in the number of TTR gene sequencing performed annually between 2018 and 2023. Positive rates re

SUBMITTER: Ait Tayeb AEK 

PROVIDER: S-EPMC12012641 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature