Real life experience of tafamidis for the treatment of Spanish patients with Val30Met transthyretin amyloidosis with polyneuropathy.

Autor:	Sanso MAR; Servicio de Medicina Interna, Unidad Amiloidosis por Trastirretina, Hospital Universitario Son Llàtzer, Instituto de Investigación Sanitaria Illes Balears (idISBA), Palma de Mallorca, Spain., Rodriguez AR; Servicio de Medicina Interna, Unidad Amiloidosis por Trastirretina, Hospital Universitario Son Llàtzer, Instituto de Investigación Sanitaria Illes Balears (idISBA), Palma de Mallorca, Spain., Vicente LM; Servicio de Neurología, Unidad de Neuromuscular, IdISSC, Hospital Clínico San Carlos, Madrid, Spain., Sevilla T; Servicio de Neurología, Hospital Universitari i Politècnic La Fe/IISLAFE, Universitat de Valencia, CIBERER (ERN EURO-NMD), Valencia, Spain., Garro CB; Servicio de Medicina Interna, UMAH, Hospital Universitario Juan Ramón Jiménez, Huelva, Spain., Martín JF; Servicio de Medicina Interna, Hospital Álvaro Cunqueiro, Vigo, Spain., Vicente AA; Servicio de Medicina Interna, Hospital Vall d'Hebron, Barcelona, Spain., de la Prida MM; Neuromuscular Unit, Neurology Department, Bellvitge University Hospital-IDIBELL, Spain., Dávila LG; Servicio de Neurología, Unidad de Neuromuscular, IdISSC, Hospital Clínico San Carlos, Madrid, Spain., Vázquez LG; Servicio de Medicina Interna, Hospital Ribera-Povisa, Vigo, Spain., Valle FM; Servicio de Medicina Interna, Hospital Vall d'Hebron, Barcelona, Spain., Pons CC; Neuromuscular Unit, Neurology Department, Bellvitge University Hospital-IDIBELL, Spain; Multidisciplinary Unit of Familial Amyloidosis, Bellvitge University Hospital-IDIBELL, Neurometabolic Diseases Group, Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Spain; Biomedical Research Network Center in Rare Diseases (CIBERER), Valencia, Spain., Bau AF; Servicio de Medicina Interna, Hospital Álvaro Cunqueiro, Vigo, Spain., Barroso EC; Servicio de Medicina Interna, Unidad Amiloidosis por Trastirretina, Hospital Universitario Son Llàtzer, Instituto de Investigación Sanitaria Illes Balears (idISBA), Palma de Mallorca, Spain., López IL; Servicio de Medicina Interna, Unidad Amiloidosis por Trastirretina, Hospital Universitario Son Llàtzer, Instituto de Investigación Sanitaria Illes Balears (idISBA), Palma de Mallorca, Spain., González-Moreno J; Servicio de Medicina Interna, Unidad Amiloidosis por Trastirretina, Hospital Universitario Son Llàtzer, Instituto de Investigación Sanitaria Illes Balears (idISBA), Palma de Mallorca, Spain. Electronic address: jgonzalez4@hsll.es.
Jazyk:	English; Spanish; Castilian
Zdroj:	Medicina clinica [Med Clin (Barc)] 2024 May 17; Vol. 162 (9), pp. e27-e32. Date of Electronic Publication: 2024 Mar 30.
DOI:	10.1016/j.medcli.2024.01.008
Abstrakt:	Introduction: Tafamidis is the only approved transthyretin stabiliser approved for the treatment of variant transthyretin amyloidosis (A-ATTRv) related polyneuropathy (PNP). The aim of this study is to analyse the effectiveness of tafamidis in a real-world setting in Spain. Methods: This is a national multicenter study in which patients with V30M A-ATTR related PN treated with tafamidis for at least 1 year were included. Clinical, demographic, analytical and neurophysiological variables were analysed. Results: 100 patients were recruited. Overall, 47 patients (47%) were classified as complete responders, 32 (32%) as partial responders and 21 (21%) as non-responders. The median duration of treatment with tafamidis was 35 months. Better treatment response was shown in patients with in polyneuropathy disability score (PND) I, lower neuropathy impairment score (NIS), compound muscle action potential (CMAP) and Norfolk QoL questionnaire. Higher albumin levels and lower NTproBNP levels were also associated with better treatment response. A basal NIS≥15 predicts that the patient could be a non-responder with a 60% probability. Conclusions: Our results reinforce the tafamidis efficacy to treat A-ATTRv-PNP if started early in the disease course. Patients with the V30M variant, NIS<15 and PND I are the most appropriate subjects for this treatment. (Copyright © 2024 Elsevier España, S.L.U. All rights reserved.)
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu