An evaluation of patisiran: a viable treatment option for transthyretin-related hereditary amyloidosis

References

• Hawkins PN, Ando Y, Dispenzeri A, et al. Evolving landscape in the management of transthyretin amyloidosis. Ann Med. 2015;47(8):625–638.
   PubMed Web of Science ®Google Scholar
• Benson MD, Buxbaum JN, Eisenberg DS, et al. Amyloid nomenclature 2018: recommendations by the International Society of Amyloidosis (ISA) nomenclature committee. Amyloid. 2018;25(4):215–219.
   Web of Science ®Google Scholar
• Adams D, Coelho T, Obici L, et al. Rapid progression of familial amyloidotic polyneuropathy: a multinational natural history study. Neurology. 2015;85(8):675–682.
   PubMed Web of Science ®Google Scholar
• Ando Y, Coelho T, Berk JL, et al. Guideline of transthyretin-related hereditary amyloidosis for clinicians. Orphanet J Rare Dis. 2013;8:31.
   PubMed Web of Science ®Google Scholar
• Herlenius G, Wilczek HE, Larsson M, et al. Familial Amyloidotic Polyneuropathy World Transplant R. Ten years of international experience with liver transplantation for familial amyloidotic polyneuropathy: results from the familial amyloidotic polyneuropathy world transplant registry. Transplantation. 2004;77(1):64–71.
   PubMed Web of Science ®Google Scholar
• Ericzon BG, Wilczek HE, Larsson M, et al. Liver transplantation for hereditary transthyretin amyloidosis: after 20 years still the best therapeutic alternative?. Transplantation. 2015;99(9):1847–1854.
   PubMed Web of Science ®Google Scholar
• Suhr OB, Larsson M, Ericzon B-G, et al. investigators FAs. Survival after transplantation in patients with mutations other than Val30Met: extracts from the FAP world transplant registry. Transplantation. 2016;100(2):373–381.
   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(8):785–792.
   PubMed Web of Science ®Google Scholar
• Cortese A, Vita G, Luigetti M, et al. Monitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic area. J Neurol. 2016;263(5):916–924.
   PubMed Web of Science ®Google Scholar
• Ando Y, Sekijima Y, Obayashi K, et al. Effects of tafamidis treatment on transthyretin (TTR) stabilization, efficacy, and safety in Japanese patients with familial amyloid polyneuropathy (TTR-FAP) with Val30Met and non-Val30Met: A phase III, open-label study. J Neurol Sci. 2016;362:266–271.
   PubMed Web of Science ®Google Scholar
• Plante-Bordeneuve V, Gorram F, Salhi H, et al. Long-term treatment of transthyretin familial amyloid polyneuropathy with tafamidis: a clinical and neurophysiological study. J Neurol. 2017;264(2):268–276.
   PubMed Web of Science ®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.
   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(24):2658–2667.
   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(1):22–31.
   PubMed Web of Science ®Google Scholar
• Coelho T, Adams D, Silva A, et al. Safety and efficacy of RNAi therapy for transthyretin amyloidosis. N Engl J Med. 2013;369(9):819–829.
   PubMed Web of Science ®Google Scholar
• Nair JK, Willoughby JL, Chan A, et al. Multivalent N-acetylgalactosamine-conjugated siRNA localizes in hepatocytes and elicits robust RNAi-mediated gene silencing. J Am Chem Soc. 2014;136(49):16958–16961.
   PubMed Web of Science ®Google Scholar
• Zimmermann TS, Karsten V, Chan A, et al. Clinical proof of concept for a novel hepatocyte-targeting GalNAc-siRNA conjugate. Mol Ther. 2017;25(1):71–78.
   PubMed Web of Science ®Google Scholar
• Zanazzi G, Arshad M, Maurer MS, et al. Demyelinating neuropathy in a patient treated with revusiran for transthyretin (Thr60Ala) amyloidosis. J Clin Neuromuscul Dis. 2019;20(3):120–128.
   PubMedGoogle Scholar
• Haagsma EB, Van G II, Bijzet J, et al. Familial amyloidotic polyneuropathy: long-term follow-up of abdominal fat tissue aspirate in patients with and without liver transplantation. Amyloid. 2007;14(3):221–226.
   PubMed Web of Science ®Google Scholar
• Tsuchiya A, Yazaki M, Kametani F, et al. Marked regression of abdominal fat amyloid in patients with familial amyloid polyneuropathy during long-term follow-up after liver transplantation. Liver Transpl. 2008;14(4):563–570.
   PubMed Web of Science ®Google Scholar
• Palladini G, Dispenzieri A, Gertz MA, et al. New criteria for response to treatment in immunoglobulin light chain amyloidosis based on free light chain measurement and cardiac biomarkers: impact on survival outcomes. J Clin Oncol. 2012;30(36):4541–4549.
   PubMed Web of Science ®Google Scholar
• Milani P, Basset M, Russo F, et al. Patients with light-chain amyloidosis and low free light-chain burden have distinct clinical features and outcome. Blood. 2017;130(5):625–631.
   PubMed Web of Science ®Google Scholar
• Dittrich T, Bochtler T, Kimmich C, et al. AL amyloidosis patients with low amyloidogenic free light chain levels at first diagnosis have an excellent prognosis. Blood. 2017;130(5):632–642.
   PubMed Web of Science ®Google Scholar
• Lachmann HJ, Goodman HJ, Gilbertson JA, et al. Natural history and outcome in systemic AA amyloidosis. N Engl J Med. 2007;356(23):2361–2371.
   PubMed Web of Science ®Google Scholar
• Obici L, Merlini G. AA amyloidosis: basic knowledge, unmet needs and future treatments. Swiss Med Wkly. 2012;142:w13580.
   PubMed Web of Science ®Google Scholar
• Holmgren G, Steen L, Ekstedt J, et al. Biochemical effect of liver transplantation in two Swedish patients with familial amyloidotic polyneuropathy (FAP-met30). Clin Genet. 1991;40(3):242–246.
   PubMed Web of Science ®Google Scholar
• Soprano DR, Herbert J, Soprano KJ, et al. Demonstration of transthyretin mRNA in the brain and other extrahepatic tissues in the rat. J Biol Chem. 1985;260(21):11793–11798.
   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.
   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.
   PubMed Web of Science ®Google Scholar
• Zhang X, Goel V, Attarwala H, et al. Patisiran pharmacokinetics, pharmacodynamics, and exposure-response analyses in the phase 3 APOLLO trial in patients with hereditary transthyretin-mediated (hATTR) amyloidosis. J Clin Pharmacol. 2019.
   Google Scholar
• Vinik EJ, Vinik AI, Paulson JF, et al. Norfolk QOL-DN: validation of a patient reported outcome measure in transthyretin familial amyloid polyneuropathy. J Peripher Nerv Syst. 2014;19(2):104–114.
   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.
   PubMed Web of Science ®Google Scholar
• Minamisawa M, Claggett B, Adams D, et al. Association of patisiran, an RNA interference therapeutic, with regional left ventricular myocardial strain in hereditary transthyretin amyloidosis: the APOLLO study. JAMA Cardiol. 2019;4(5):466–472.
   Web of Science ®Google Scholar
• Gonzalez-Duarte A, Coelho T, Adams D, et al. Long-term use of patisiran in patients with hereditary transthyretin amyloidosis (hATTR): 12 month efficacy & safety data from a global open label extension (OLE) study. Can J Neurol Sci. 2019;(46(S1)).
   Google Scholar
• Polydefkis M, González-Duarte A, Coelho T et al. Long-term safety and efficacy of patisiran in patients with hATTR amyloidosis: global OLE study; [cited 2019 July]. Available from: https://www.alnylam.com/2019/06/24/pati-pns-2019/2019
   Google Scholar
• Rosenblum H, Castano A, Alvarez J, et al. TTR (Transthyretin) stabilizers are associated with improved survival in patients with TTR cardiac amyloidosis. Circ Heart Fail. 2018;11(4):e004769.
   PubMed Web of Science ®Google Scholar
• Maia LF, Magalhaes R, Freitas J, et al. CNS involvement in V30M transthyretin amyloidosis: clinical, neuropathological and biochemical findings. J Neurol Neurosurg Psychiatry. 2015;86(2):159–167.
   PubMed Web of Science ®Google Scholar
• Beirao JM, Malheiro J, Lemos C, et al. Ophthalmological manifestations in hereditary transthyretin (ATTR V30M) carriers: a review of 513 cases. Amyloid. 2015;22(2):117–122.
   PubMed Web of Science ®Google Scholar
• Gillmore JD, Maurer MS, Falk RH, et al. Non-biopsy diagnosis of cardiac transthyretin amyloidosis. Circulation. 2016;133(24):2404–2412.
   Google Scholar
• Schmidt HH, Barroso F, Gonzalez-Duarte A, et al. Management of asymptomatic gene carriers of transthyretin familial amyloid polyneuropathy. Muscle Nerve. 2016;54(3):353–360.
   PubMed Web of Science ®Google Scholar