Related Experiment Video
Updated: May 10, 2025
Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
TTR Gene Screening Since the Advent of Biotherapies in France: A Nationwide Retrospective Survey Between 2018 and
Abd El Kader Ait Tayeb1,2,3, Pauline Chazelas4,5, Vianney Poinsignon1
1Service de Génétique Moléculaire, Pharmacogénétique et Hormonologie de Bicêtre, Hôpitaux Universitaires Paris-Saclay, Assistance Publique-Hôpitaux de Paris, Hôpital de Bicêtre, Le Kremlin Bicêtre, France.
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 remained stable despite increased testing (7.09% over time). During this 6-year period, 1,179 patients were diagnosed with a pathogenic variant of TTR.
Conclusions:
The study shows a substantial rise in TTR genetic testing in France, likely linked to the deployment of biotherapies. These findings underscore the necessity of integrating TTR gene sequencing into standard diagnostic procedures, especially given the effectiveness of treatments and the stability of positive rates.
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