Massimo Russo1, Luca Gentile1, Vincenzo Di Stefano2, Gianluca Di Bella3, Fabio Minutoli4, Antonio Toscano1, Filippo Brighina2, Giuseppe Vita1, Anna Mazzeo1. 1. Unit of Neurology and Neuromuscular Diseases, Department of Clinical and Experimental Medicine, University of Messina, 98122 Messina, Italy. 2. Department of Biomedicine, Neuroscience and Advanced Diagnostic (BIND), University of Palermo, 90133 Palermo, Italy. 3. Cardiology Unit, Department of Clinical and Experimental Medicine, AOU Policlinico G. Martino, University of Messina, 98122 Messina, Italy. 4. Department of Biomedical and Dental Sciences and Morphofunctional Imaging, University of Messina, 98122 Messina, Italy.
Abstract
BACKGROUND: Over the past decade, three new drugs have been approved for the treatment of hereditary amyloid transthyretin (ATTRv) polyneuropathy. The aim of this work was to analyze whether current therapies prolong survival for patients affected by ATTRv amyloidosis. METHODS: The study was conducted retrospectively, analyzing the medical records of 105 patients with genetic diagnoses of familial amyloidotic polyneuropathy followed at the two referral centers for the disease in Sicily, Italy. Of these, 71 received disease-modifying therapy, while 34 received only symptomatic treatment or no therapy. RESULTS: The most used treatment in our patient cohort was tafamidis, followed by liver transplantation, patisiran, inotersen, and diflunisal. The median survival was significantly longer for treated vs. untreated patients (12 years vs. 8 years). In the 71 patients who received disease-modifying treatment, the presence of cardiac involvement, weight loss, or autonomic dysfunction at diagnosis was not related to survival. Conversely, patients diagnosed in the early stage of the disease (PND 1) had significantly longer survival than those diagnosed in the late stage (PND 2-4).
BACKGROUND: Over the past decade, three new drugs have been approved for the treatment of hereditary amyloid transthyretin (ATTRv) polyneuropathy. The aim of this work was to analyze whether current therapies prolong survival for patients affected by ATTRv amyloidosis. METHODS: The study was conducted retrospectively, analyzing the medical records of 105 patients with genetic diagnoses of familial amyloidotic polyneuropathy followed at the two referral centers for the disease in Sicily, Italy. Of these, 71 received disease-modifying therapy, while 34 received only symptomatic treatment or no therapy. RESULTS: The most used treatment in our patient cohort was tafamidis, followed by liver transplantation, patisiran, inotersen, and diflunisal. The median survival was significantly longer for treated vs. untreated patients (12 years vs. 8 years). In the 71 patients who received disease-modifying treatment, the presence of cardiac involvement, weight loss, or autonomic dysfunction at diagnosis was not related to survival. Conversely, patients diagnosed in the early stage of the disease (PND 1) had significantly longer survival than those diagnosed in the late stage (PND 2-4).
Authors: David Adams; Alejandra Gonzalez-Duarte; William D O'Riordan; Chih-Chao Yang; Mitsuharu Ueda; Arnt V Kristen; Ivailo Tournev; Hartmut H Schmidt; Teresa Coelho; John L Berk; Kon-Ping Lin; Giuseppe Vita; Shahram Attarian; Violaine Planté-Bordeneuve; Michelle M Mezei; Josep M Campistol; Juan Buades; Thomas H Brannagan; Byoung J Kim; Jeeyoung Oh; Yesim Parman; Yoshiki Sekijima; Philip N Hawkins; Scott D Solomon; Michael Polydefkis; Peter J Dyck; Pritesh J Gandhi; Sunita Goyal; Jihong Chen; Andrew L Strahs; Saraswathy V Nochur; Marianne T Sweetser; Pushkal P Garg; Akshay K Vaishnaw; Jared A Gollob; Ole B Suhr Journal: N Engl J Med Date: 2018-07-05 Impact factor: 91.245
Authors: Luca Gentile; Gianluca Di Bella; Fabio Minutoli; Francescopaolo Cucinotta; Laura Obici; Roberta Mussinelli; Ilenia Arimatea; Massimo Russo; Antonio Toscano; Giuseppe Vita; Anna Mazzeo Journal: J Peripher Nerv Syst Date: 2020-05-12 Impact factor: 3.494
Authors: Matthias N Ungerer; Ernst Hund; Jan C Purrucker; Laura Huber; Christoph Kimmich; Fabian Aus dem Siepen; Selina Hein; Arnt V Kristen; Katrin Hinderhofer; Jennifer Kollmer; Stefan Schönland; Ute Hegenbart; Markus Weiler Journal: Amyloid Date: 2020-12-07 Impact factor: 7.141
Authors: Marco Luigetti; Giovanni Antonini; Andrea Di Paolantonio; Luca Gentile; Marina Grandis; Luca Leonardi; Alessandro Lozza; Fiore Manganelli; Anna Mazzeo; Roberta Mussinelli; Filomena My; Laura Obici; Elena Maria Pennisi; Marina Romozzi; Massimo Russo; Mario Sabatelli; Alessandro Salvalaggio; Matteo Tagliapietra; Stefano Tozza Journal: Eur J Neurol Date: 2022-03-28 Impact factor: 6.288