{Reference Type}: Journal Article
{Title}: Transthyretin amyloid polyneuropathy in France: A cross-sectional study with 413 patients and real-world tafamidis meglumine use (2009-2019).
{Author}: Adams D;Cintas P;Solé G;Tard C;Labeyrie C;Echaniz-Laguna A;Cauquil C;Pereon Y;Magy L;Morales RJ;Antoine JC;Lagrange E;Petiot P;Mallaret M;Francou B;Guiochon-Mantel A;Coste A;Demarcq O;Geffroy C;Famelart V;Rudant J;Bartoli M;Donal E;Lairez O;Eicher JC;Kharoubi M;Oghina S;Trochu JN;Inamo J;Habib G;Roubille F;Hagège A;Morio F;Cariou E;Adda J;Slama MS;Charron P;Algalarrondo V;Damy T;Attarian S;
{Journal}: Rev Neurol (Paris)
{Volume}: 0
{Issue}: 0
{Year}: 2024 Apr 19
{Factor}: 4.313
{DOI}: 10.1016/j.neurol.2024.02.393
{Abstract}: <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.