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ArticleEuropean journal of neurology2025

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

Abd El Kader Ait Tayeb, Pauline Chazelas, Vianney Poinsignon, David Adams, Caroline Berthot, Cécile Cauquil, Claire-Marie Dhaenens, Bruno Francou, Guillaume Jedraszak, Céline Labeyrie and 9 more

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Article in European journal of neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
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1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

19 authors.

Abd El Kader Ait TayebService de Génétique Moléculaire, Pharmacogénétique et Hormonologie de Bicêtre, Hôpitaux Universitaires Paris-Saclay, Assistance Publique-Hôpitaux de Paris, Hôpital de Bicêtre, Le Kremlin Bicêtre, France.ORCID 0000-0001-6432-1098
Pauline ChazelasService de Biochimie et Génétique Moléculaire, Centre Hospitalo-Universitaire, Limoges, France.
Vianney PoinsignonService de Génétique Moléculaire, Pharmacogénétique et Hormonologie de Bicêtre, Hôpitaux Universitaires Paris-Saclay, Assistance Publique-Hôpitaux de Paris, Hôpital de Bicêtre, Le Kremlin Bicêtre, France.
David AdamsNeurology Department, Bicêtre University Hospital, Le Kremlin-Bicêtre, France.ORCID 0000-0002-8722-4108
Caroline BerthotService de Génétique Moléculaire, Pharmacogénétique et Hormonologie de Bicêtre, Hôpitaux Universitaires Paris-Saclay, Assistance Publique-Hôpitaux de Paris, Hôpital de Bicêtre, Le Kremlin Bicêtre, France.ORCID 0009-0002-1410-2780
Cécile CauquilNeurology Department, Bicêtre University Hospital, Le Kremlin-Bicêtre, France.
Claire-Marie DhaenensUniv. Lille, Inserm, CHU Lille, U1172-LilNCog-Lille Neuroscience & Cognition, Lille, France.
Bruno FrancouService de Génétique Moléculaire, Pharmacogénétique et Hormonologie de Bicêtre, Hôpitaux Universitaires Paris-Saclay, Assistance Publique-Hôpitaux de Paris, Hôpital de Bicêtre, Le Kremlin Bicêtre, France.
Guillaume JedraszakLaboratoire de Génétique Constitutionnelle, CHU Amiens-Picardie, Amiens, France.
Céline LabeyrieNeurology Department, Bicêtre University Hospital, Le Kremlin-Bicêtre, France.ORCID 0000-0001-9765-709X
Clara Laffitte RedondoService de Génétique Moléculaire, Pharmacogénétique et Hormonologie de Bicêtre, Hôpitaux Universitaires Paris-Saclay, Assistance Publique-Hôpitaux de Paris, Hôpital de Bicêtre, Le Kremlin Bicêtre, France.
Anne-Sophie LiaService de Biochimie et Génétique Moléculaire, Centre Hospitalo-Universitaire, Limoges, France.
Maureen LopezService de Génétique Moléculaire, Pharmacogénétique et Hormonologie de Bicêtre, Hôpitaux Universitaires Paris-Saclay, Assistance Publique-Hôpitaux de Paris, Hôpital de Bicêtre, Le Kremlin Bicêtre, France.
Alexis ProustService de Génétique Moléculaire, Pharmacogénétique et Hormonologie de Bicêtre, Hôpitaux Universitaires Paris-Saclay, Assistance Publique-Hôpitaux de Paris, Hôpital de Bicêtre, Le Kremlin Bicêtre, France.
Franck SturtzService de Biochimie et Génétique Moléculaire, Centre Hospitalo-Universitaire, Limoges, France.
Lucie ToscaService de Génétique Moléculaire, Pharmacogénétique et Hormonologie de Bicêtre, Hôpitaux Universitaires Paris-Saclay, Assistance Publique-Hôpitaux de Paris, Hôpital de Bicêtre, Le Kremlin Bicêtre, France.
Céline VerstuyftService de Génétique Moléculaire, Pharmacogénétique et Hormonologie de Bicêtre, Hôpitaux Universitaires Paris-Saclay, Assistance Publique-Hôpitaux de Paris, Hôpital de Bicêtre, Le Kremlin Bicêtre, France.
Andoni Echaniz-LagunaNeurology Department, Bicêtre University Hospital, Le Kremlin-Bicêtre, France.ORCID 0000-0003-1012-9783
Jérôme BouligandService de Génétique Moléculaire, Pharmacogénétique et Hormonologie de Bicêtre, Hôpitaux Universitaires Paris-Saclay, Assistance Publique-Hôpitaux de Paris, Hôpital de Bicêtre, Le Kremlin Bicêtre, France.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundHereditary 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.

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

results16,640 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.

conclusionsThe 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.

Indexed as

Amyloid Neuropathies, FamilialBiological TherapyGenetic TestingPrealbuminAdultAgedFemaleFranceHumansMaleMiddle AgedMutationRetrospective StudiesPrealbuminTTR protein, humanamyloidosisepidemiologynationwide surveytransthyretinTTR gene

Identifiers

PMID40260709
PMCPMC12012641

What Socratic holds

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.