%0 Journal Article
%T Transthyretin amyloid polyneuropathy in France: A cross-sectional study with 413 patients and real-world tafamidis meglumine use (2009-2019).
%A Adams D
%A Cintas P
%A Solé G
%A Tard C
%A Labeyrie C
%A Echaniz-Laguna A
%A Cauquil C
%A Pereon Y
%A Magy L
%A Morales RJ
%A Antoine JC
%A Lagrange E
%A Petiot P
%A Mallaret M
%A Francou B
%A Guiochon-Mantel A
%A Coste A
%A Demarcq O
%A Geffroy C
%A Famelart V
%A Rudant J
%A Bartoli M
%A Donal E
%A Lairez O
%A Eicher JC
%A Kharoubi M
%A Oghina S
%A Trochu JN
%A Inamo J
%A Habib G
%A Roubille F
%A Hagège A
%A Morio F
%A Cariou E
%A Adda J
%A Slama MS
%A Charron P
%A Algalarrondo V
%A Damy T
%A Attarian S
%J Rev Neurol (Paris)
%V 0
%N 0
%D 2024 Apr 19
%M 38643028
%F 4.313
%R 10.1016/j.neurol.2024.02.393
%X <B>OBJECTIVE: </B>We aimed to describe characteristics of patients with ATTR variant polyneuropathy (ATTRv-PN) and ATTRv-mixed and assess the real-world use and safety profile of tafamidis meglumine 20mg.<BR><B>METHODS: </B>Thirty-eight French hospitals were invited. Patient files were reviewed to identify clinical manifestations, diagnostic methods, and treatment compliance.<BR><B>RESULTS: </B>Four hundred and thirteen patients (296 ATTRv-PN, 117 ATTRv-mixed) were analyzed. Patients were predominantly male (68.0%) with a mean age of 57.2±17.2 years. Interval between first symptom(s) and diagnosis was 3.4±4.3 years. First symptoms included sensory complaints (85.9%), dysautonomia (38.5%), motor deficits (26.4%), carpal tunnel syndrome (31.5%), shortness of breath (13.3%), and unexplained weight loss (16.0%). Mini-invasive accessory salivary gland or punch skin and nerve biopsies were most common, with a performance of 78.8-100%. TTR genetic sequencing, performed in all patients, revealed 31 TTR variants. Tafamidis meglumine was initiated in 156/214 (72.9%) ATTRv-PN patients at an early disease stage. Median treatment duration was 6.00 years in ATTRv-PN and 3.42 years in ATTRv-mixed patients. Tafamidis was well tolerated, with 20 adverse events likely related to study drug among the 336 patients.<BR><B>CONCLUSIONS: </B>In France, ATTRv patients are usually identified early thanks to the national network and the help of diagnosis combining genetic testing and mini-invasive biopsies.