Italian Real-Life Experience of Patients with Hereditary Transthyretin Amyloidosis Treated with Patisiran

References

• Russo M, Gentile L, Di Stefano V, et al. Use of drugs for ATTR amyloidosis in the real world: how therapy is changing survival in a non-endemic area. Brain Sci. 2021;11(5):545. doi:10.3390/brainsci11050545
   PubMed Web of Science ®Google Scholar
• Adams D, Koike H, Slama M, Coelho T. Hereditary transthyretin amyloidosis: a model of medical progress for a fatal disease. Nat Rev Neurol. 2019;15(7):387–404. doi:10.1038/s41582-019-0210-4
   PubMed Web of Science ®Google Scholar
• Conceicao I, González-Duarte A, Obici L, et al. “Red- flag” symptom clusters in transthyretin familial amyloid polyneuropathy. J Peripher Nerv Syst. 2016;21:5–9. doi:10.1111/jns.12153
   PubMed Web of Science ®Google Scholar
• Magliano L, Obici L, Sforzini C, et al. Psychosocial burden and professional and social support in patients with hereditary transthyretin amyloidosis (ATTRv) and their relatives in Italy. Orphanet J Rare Dis. 2021;16:163. doi:10.1186/s13023-021-01812-6
   PubMed Web of Science ®Google Scholar
• Koike H, Okumura T, Murohara T, Katsuno M. Multidisciplinary approaches for transthyretin amyloidosis. Cardiol Ther. 2021;10(2):289–311. doi:10.1007/s40119-021-00222-w
   PubMed Web of Science ®Google Scholar
• Russo M, Gentile L, Toscano A, Hammed Aguennouz M, Vita G, Mazzeo A. Advances in treatment of ATTRv amyloidosis: state of the art and future prospects. Brain Sci. 2020;10:952. doi:10.3390/brainsci10120952
   PubMed Web of Science ®Google Scholar
• Suhr OB, Coelho T, Buades J, et al. Efficacy and safety of patisiran for familial amyloidotic polyneuropathy: a Phase II multi-dose study. Orphanet J Rare Dis. 2015;10:109. doi:10.1186/s13023-015-0326-6
   PubMed Web of Science ®Google Scholar
• Adams D, Gonzalez-Duarte A, O’Riordan WD, et al. Patisiran, an RNAi therapeutic, for hereditary transthyretin amyloidosis. N Engl J Med. 2018;379(1):11–21. doi:10.1056/NEJMoa1716153
   PubMed Web of Science ®Google Scholar
• Solomon SD, Adams D, Kristen A, et al. Effects of patisiran, an RNA interference therapeutic, on cardiac parameters in patients with hereditary transthyretin-mediated amyloidosis. Circulation. 2019;139(4):431–443. doi:10.1161/CIRCULATIONAHA.118.035831
   PubMed Web of Science ®Google Scholar
• Adams D, Polydefkis M, González-Duarte A, et al. Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study. Lancet Neurol. 2021;20(1):49–59. doi:10.1016/S1474-4422(20)30368-9
   PubMed Web of Science ®Google Scholar
• Mazzeo A, Russo M, Di Bella G, et al. Transthyretin-Related Familial Amyloid Polyneuropathy (TTR-FAP): a single-center experience in Sicily, an Italian endemic area. J Neuromuscul Dis. 2015;2(s2):S39–48. doi:10.3233/JND-150091
   PubMedGoogle Scholar
• Solé G, Salort-Campana E, Pereon Y, et al. Guidance for the care of neuromuscular patients during the COVID-19 pandemic outbreak from the French rare health care for neuromuscular diseases network. Rev Neurol. 2020;176(6):507–515. doi:10.1016/j.neurol.2020.04.004
   PubMed Web of Science ®Google Scholar
• Di Stefano V, Battaglia G, Giustino V, et al. Significant reduction of physical activity in patients with neuromuscular disease during COVID-19 pandemic: the long-term consequences of quarantine. J Neurol. 2021;268(1):20–26. doi:10.1007/s00415-020-10064-6
   PubMed Web of Science ®Google Scholar
• Russo M, Obici L, Bartolomei I, et al. ATTRv amyloidosis Italian registry: clinical and epidemiological data. Amyloid. 2020;27(4):259–265. doi:10.1080/13506129.2020.1794807
   PubMed Web of Science ®Google Scholar
• Gentile L, Russo M, Luigetti M, et al. Patisiran in hATTR amyloidosis: six-month latency period before efficacy. Brain Sci. 2021;11(4):515. doi:10.3390/brainsci11040515
   PubMed Web of Science ®Google Scholar
• Perugini E, Guidalotti PL, Salvi F, et al. Noninvasive etiologic diagnosis of cardiac amyloidosis using 99mTc-3, 3-diphosphono-1, 2-propanodicarboxylic acid scintigraphy. J Am Coll Cardiol. 2005;46(6):1076–1084. doi:10.1016/j.jacc.2005.05.073
   PubMed Web of Science ®Google Scholar
• Dyck PJ, Sherman WR, Hallcher LM, et al. Human diabetic endoneurial sorbitol, fructose, and myo-inositol related to sural nerve morphometry. Ann Neurol. 1980;8:590–596. doi:10.1002/ana.410080608
   PubMed Web of Science ®Google Scholar
• Mayaudon H, Miloche PO, Bauduceau B. A new simple method for assessing sudomotor function: relevance in type 2 diabetes. Diabetes Metab. 2010;36:450–454. doi:10.1016/j.diabet.2010.05.004
   PubMed Web of Science ®Google Scholar
• Lauria G, Hsieh ST, Johansson O, et al. European federation of neurological societies/peripheral nerve society guideline on the use of skin biopsy in the diagnosis of small fiber neuropathy. Report of a joint task force of the European Federation of Neurological Societies and the Peripheral Nerve Society. Eur J Neurol. 2010;17(903–12):e44–9.
   Google Scholar
• Gentile L, Tournev I, Amass L, Chapman D, Mazzeo A; THAOS investigators. Phenotypic differences of Glu89Gln genotype in ATTR amyloidosis from endemic loci: update from THAOS. Cardiol Ther. 2021;10:481–490. doi:10.1007/s40119-021-00226-6
   PubMed Web of Science ®Google Scholar
• Berk JL, Suhr OB, Obici L, et al. Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial. JAMA. 2013;310:2658–2667. doi:10.1001/jama.2013.283815
   PubMed Web of Science ®Google Scholar
• González-Duarte A, Berk JL, Quan D, et al. Analysis of autonomic outcomes in APOLLO, a phase III trial of the RNAi therapeutic patisiran in patients with hereditary transthyretin-mediated amyloidosis. J Neurol. 2020;267(3):703–712. doi:10.1007/s00415-019-09602-8
   PubMed Web of Science ®Google Scholar
• Saito M, Nakao Y, Higaki R, et al. Clinical significance of the relative apical sparing pattern of longitudinal strain in patients with cardiac amyloidosis. Eur Heart J. 2020;41(2):2012. doi:10.1093/ehjci/ehaa946.1012
   PubMedGoogle Scholar
• Padua L, LoMonaco M, Gregori B, Valente EM, Padua R, Tonali P. Neurophysiological classification and sensitivity in 500 carpal tunnel syndrome hands. Acta Neurol Scand. 1997;96:211–217. doi:10.1111/j.1600-0404.1997.tb00271.x
   PubMed Web of Science ®Google Scholar
• Benson MD, Waddington-Cruz M, Berk JL, et al. Inotersen treatment for patients with hereditary transthyretin amyloidosis. N Engl J Med. 2018;379:22–31. doi:10.1056/NEJMoa1716793
   PubMed Web of Science ®Google Scholar
• Luigetti M, Romozzi M, Bisogni G, et al. hATTR pathology: nerve biopsy results from Italian referral centers. Brain Sci. 2020;10:780. doi:10.3390/brainsci10110780
   PubMed Web of Science ®Google Scholar
• Musumeci MB, Cappelli F, Russo D, et al. Low sensitivity of bone scintigraphy in detecting Phe64Leu mutation-related transthyretin cardiac amyloidosis. JACC Cardiovasc Imaging. 2020;13:1314–1321. doi:10.1016/j.jcmg.2019.10.015
   PubMed Web of Science ®Google Scholar
• Coelho T, Maia LF, Martins `da Silva A, et al. Tafamidis for transthyretin familial amyloid polyneuropathy: a randomized, controlled trial. Neurology. 2012;79:785–792. doi:10.1212/WNL.0b013e3182661eb1
   PubMed Web of Science ®Google Scholar
• Coelho T. Tafamidis: a novel and effective oral treatment for familial amyloid neuropathies. Eur J Neurol. 2012;19(Suppl 1):8.
   Google Scholar
• Maurer MS, Schwartz JH, Gundapaneni B, et al. Tafamidis treatment for patients with transthyretin amyloid cardiomyopathy. N Engl J Med. 2018;379(11):1007–1016. doi:10.1056/NEJMoa1805689
   PubMed Web of Science ®Google Scholar
• Adams D, Algalarrondo V, Polydefkis M, Sarswat N, Slama MS, Nativi-Nicolau J. Expert opinion on monitoring symptomatic hereditary transthyretin-mediated amyloidosis and assessment of disease progression. Orphanet J Rare Dis. 2021;16(1):411. doi:10.1186/s13023-021-01960-9
   PubMed Web of Science ®Google Scholar
• Fontana M, Martinez-Naharro A, Chacko L, et al. Reduction in CMR derived extracellular volume with patisiran indicates cardiac amyloid regression. JACC Cardiovasc Imaging. 2021;14(1):189–199. doi:10.1016/j.jcmg.2020.07.043
   PubMed Web of Science ®Google Scholar