Patisiran, an RNAi Therapeutic for the Treatment of Hereditary Transthyretin-Mediated Amyloidosis

References

• Chiti F , DobsonCM . Protein misfolding, amyloid formation, and human disease: a summary of progress over the last decade . Annu. Rev. Biochem.86, 27 – 68 ( 2017 ).
   PubMed Web of Science ®Google Scholar
• Shin SC , Robinson-PappJ . Amyloid neuropathies . Mt. Sinai J. Med.79 ( 6 ), 733 – 748 ( 2012 ).
   PubMedGoogle Scholar
• Sipe JD , BensonMD, BuxbaumJNet al. Amyloid fibril proteins and amyloidosis: chemical identification and clinical classification International Society of Amyloidosis 2016 Nomenclature Guidelines . Amyloid23 ( 4 ), 209 – 213 ( 2016 ).
   PubMed Web of Science ®Google Scholar
• Perfetto F , Moggi-PignoneA, LiviR, TempestiniA, BergesioF, Matucci-CerinicM . Systemic amyloidosis: a challenge for the rheumatologist . Nat. Rev. Rheumatol.6 ( 7 ), 417 – 429 ( 2010 ).
   PubMed Web of Science ®Google Scholar
• Matsuda M , GonoT, MoritaH, KatohN, KodairaM, IkedaS . Peripheral nerve involvement in primary systemic AL amyloidosis: a clinical and electrophysiological study . Eur. J. Neurol.18 ( 4 ), 604 – 610 ( 2011 ).
   PubMed Web of Science ®Google Scholar
• Ando Y , CoelhoT, BerkJLet al. Guideline of transthyretin-related hereditary amyloidosis for clinicians . Orphanet. J. Rare Dis.8, 31 ( 2013 ).
   PubMed Web of Science ®Google Scholar
• Westermark P , SlettenK, JohanssonB, CornwellGG3rd . Fibril in senile systemic amyloidosis is derived from normal transthyretin . Proc. Natl Acad. Sci. USA87 ( 7 ), 2843 – 2845 ( 1990 ).
   PubMed Web of Science ®Google Scholar
• Adams D , CoelhoT, ObiciLet al. Rapid progression of familial amyloidotic polyneuropathy: a multinational natural history study . Neurology85 ( 8 ), 675 – 682 ( 2015 ).
   PubMed Web of Science ®Google Scholar
• Hanna M . Novel drugs targeting transthyretin amyloidosis . Curr. Heart Fail. Rep.11 ( 1 ), 50 – 57 ( 2014 ).
   PubMedGoogle Scholar
• Hawkins PN , AndoY, DispenzeriA, Gonzalez-DuarteA, AdamsD, SuhrOB . Evolving landscape in the management of transthyretin amyloidosis . Ann. Med.47 ( 8 ), 625 – 638 ( 2015 ).
   PubMed Web of Science ®Google Scholar
• Kelly JW . Amyloid fibril formation and protein misassembly: a structural quest for insights into amyloid and prion diseases . Structure5 ( 5 ), 595 – 600 ( 1997 ).
   PubMed Web of Science ®Google Scholar
• Damy T , JudgeDP, KristenAV, BerthetK, LiH, AartsJ . Cardiac findings and events observed in an open-label clinical trial of tafamidis in patients with non-Val30Met and non-Val122Ile hereditary transthyretin amyloidosis . J. Cardiovasc. Transl. Res.8 ( 2 ), 117 – 127 ( 2015 ).
   PubMed Web of Science ®Google Scholar
• Ando Y , NakamuraM, ArakiS . Transthyretin-related familial amyloidotic polyneuropathy . Arch. Neurol.62 ( 7 ), 1057 – 1062 ( 2005 ).
   PubMed Web of Science ®Google Scholar
• Pfizer . Recognizing TTR-FAP: a rare disease with a global presence ( 2014 ). https://www.recognizingttr-fap.com/epidemiology .
   Google Scholar
• Sousa A , CoelhoT, BarrosJ, SequeirosJ . Genetic epidemiology of familial amyloidotic polyneuropathy (FAP)-type I in Povoa do Varzim and Vila do Conde (north of Portugal) . Am. J. Med. Genet.60 ( 6 ), 512 – 521 ( 1995 ).
   PubMed Web of Science ®Google Scholar
• Parman Y , AdamsD, ObiciLet al. Sixty years of transthyretin familial amyloid polyneuropathy (TTR-FAP) in Europe: where are we now? A European network approach to defining the epidemiology and management patterns for TTR-FAP . Curr. Opin. Neurol.29 ( Suppl. 1 ), S3 – S13 ( 2016 ).
   PubMed Web of Science ®Google Scholar
• Vieira M , SaraivaMJ . Transthyretin: a multifaceted protein . Biomol. Concepts5 ( 1 ), 45 – 54 ( 2014 ).
   PubMedGoogle Scholar
• Liz MA , MarFM, FranquinhoF, SousaMM . Aboard transthyretin: from transport to cleavage . IUBMB. Life62 ( 6 ), 429 – 435 ( 2010 ).
   PubMed Web of Science ®Google Scholar
• Monaco HL , RizziM, CodaA . Structure of a complex of two plasma proteins: transthyretin and retinol-binding protein . Science268 ( 5213 ), 1039 – 1041 ( 1995 ).
   PubMed Web of Science ®Google Scholar
• Mangione PP , VeronaG, CorazzaAet al. Plasminogen activation triggers transthyretin amyloidogenesis in vitro . J. Biol. Chem. ( 2018 ) ( In press ).
   PubMed Web of Science ®Google Scholar
• Klimtchuk ES , ProkaevaT, FrameNMet al. Unusual duplication mutation in a surface loop of human transthyretin leads to an aggressive drug-resistant amyloid disease . Proc. Natl Acad. Sci. USA115 ( 28 ), E6428 – E6436 ( 2018 ).
   PubMed Web of Science ®Google Scholar
• Benson MD . Pathogenesis of transthyretin amyloidosis . Amyloid19 ( Suppl. 1 ), 14 – 15 ( 2012 ).
   PubMedGoogle Scholar
• Coelho T , MaurerMS, SuhrOB . THAOS – The Transthyretin Amyloidosis Outcomes Survey: initial report on clinical manifestations in patients with hereditary and wild-type transthyretin amyloidosis . Curr. Med. Res. Opin.29 ( 1 ), 63 – 76 ( 2013 ).
   PubMed Web of Science ®Google Scholar
• Suhr OB , LundgrenE, WestermarkP . One mutation, two distinct disease variants: unravelling the impact of transthyretin amyloid fibril composition . J. Intern. Med.281 ( 4 ), 337 – 347 ( 2017 ).
   PubMed Web of Science ®Google Scholar
• Dungu JN , AndersonLJ, WhelanCJ, HawkinsPN . Cardiac transthyretin amyloidosis . Heart98 ( 21 ), 1546 – 1554 ( 2012 ).
   PubMed Web of Science ®Google Scholar
• Maurer MS , HannaM, GroganMet al. Genotype and phenotype of transthyretin cardiac amyloidosis: THAOS (transthyretin amyloid outcome survey) . J. Am. Coll. Cardiol.68 ( 2 ), 161 – 172 ( 2016 ).
   PubMed Web of Science ®Google Scholar
• Rowczenio DM , NoorI, GillmoreJDet al. Online registry for mutations in hereditary amyloidosis including nomenclature recommendations . Hum. Mutat.35 ( 9 ), E2403 – E2412 ( 2014 ).
   PubMed Web of Science ®Google Scholar
• Saraiva MJ . Transthyretin mutations in hyperthyroxinemia and amyloid diseases . Hum. Mutat.17 ( 6 ), 493 – 503 ( 2001 ).
   PubMed Web of Science ®Google Scholar
• Rapezzi C , QuartaCC, ObiciLet al. Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective . Eur. Heart J.34 ( 7 ), 520 – 528 ( 2013 ).
   PubMed Web of Science ®Google Scholar
• Saraiva MJ , BirkenS, CostaPP, GoodmanDS . Amyloid fibril protein in familial amyloidotic polyneuropathy, Portuguese type. Definition of molecular abnormality in transthyretin (prealbumin) . J. Clin. Invest.74 ( 1 ), 104 – 119 ( 1984 ).
   PubMed Web of Science ®Google Scholar
• Ruberg FL , BerkJL . Transthyretin (TTR) cardiac amyloidosis . Circulation126 ( 10 ), 1286 – 1300 ( 2012 ).
   PubMed Web of Science ®Google Scholar
• Gorevic PD , PrelliFC, WrightJ, PrasM, FrangioneB . Systemic senile amyloidosis. Identification of a new prealbumin (transthyretin) variant in cardiac tissue: immunologic and biochemical similarity to one form of familial amyloidotic polyneuropathy . J. Clin. Invest.83 ( 3 ), 836 – 843 ( 1989 ).
   PubMed Web of Science ®Google Scholar
• Wixner J , MundayatR, KarayalONet al. THAOS: gastrointestinal manifestations of transthyretin amyloidosis – common complications of a rare disease . Orphanet. J. Rare Dis.9, 61 ( 2014 ).
   PubMed Web of Science ®Google Scholar
• Conceicao I , Gonzalez-DuarteA, ObiciLet al. “Red-flag” symptom clusters in transthyretin familial amyloid polyneuropathy . J. Peripher. Nerv. Syst.21 ( 1 ), 5 – 9 ( 2016 ).
   PubMed Web of Science ®Google Scholar
• Mohty D , DamyT, CosnayPet al. Cardiac amyloidosis: updates in diagnosis and management . Arch. Cardiovasc. Dis.106 ( 10 ), 528 – 540 ( 2013 ).
   PubMed Web of Science ®Google Scholar
• Adams D , SuhrOB, HundEet al. First European consensus for diagnosis, management, and treatment of transthyretin familial amyloid polyneuropathy . Curr. Opin. Neurol.29 ( Suppl. 1 ), S14 – S26 ( 2016 ).
   PubMedGoogle Scholar
• Conceicao I , De CarvalhoM . Clinical variability in type I familial amyloid polyneuropathy (Val30Met): comparison between late- and early-onset cases in Portugal . Muscle Nerve35 ( 1 ), 116 – 118 ( 2007 ).
   PubMed Web of Science ®Google Scholar
• Adams D , TheaudinM, CauquilC, AlgalarrondoV, SlamaM . FAP neuropathy and emerging treatments . Curr. Neurol. Neurosci. Rep.14 ( 3 ), 435 ( 2014 ).
   PubMed Web of Science ®Google Scholar
• Plante-Bordeneuve V , FerreiraA, LaluTet al. Diagnostic pitfalls in sporadic transthyretin familial amyloid polyneuropathy (TTR-FAP) . Neurology69 ( 7 ), 693 – 698 ( 2007 ).
   PubMed Web of Science ®Google Scholar
• Gillmore JD , MaurerMS, VestJet al. Analysis of disease progression in patients with transthyretin cardiac amyloidosis . Orphanet. J. Rare Dis.10 ( Suppl. 1 ), 13 ( 2015 ).
   PubMedGoogle Scholar
• Coutinho P , DeSilvaA, LimaJ, BarbosaA . Forty years of experience with type I amyloid neuropathy: review of 483 cases . In : Amyloid and Amyloidosis . GlennerG, CostaP, de FreitasA ( Eds ). Excerpta Medica, Amsterdam, The Netherlands, 88 – 98 ( 1980 ).
   Google Scholar
• Koike H , TanakaF, HashimotoRet al. Natural history of transthyretin Val30Met familial amyloid polyneuropathy: analysis of late-onset cases from non-endemic areas . J. Neurol. Neurosurg. Psychiatry83 ( 2 ), 152 – 158 ( 2012 ).
   PubMed Web of Science ®Google Scholar
• Adams D . Recent advances in the treatment of familial amyloid polyneuropathy . Ther. Adv. Neurol. Disord.6 ( 2 ), 129 – 139 ( 2013 ).
   PubMed Web of Science ®Google Scholar
• Hurst JW , MorrisDC, AlexanderRW . The use of the New York Heart Association’s classification of cardiovascular disease as part of the patient’s complete problem list . Clin. Cardiol.22 ( 6 ), 385 – 390 ( 1999 ).
   PubMed Web of Science ®Google Scholar
• Ruberg FL , MaurerMS, JudgeDPet al. Prospective evaluation of the morbidity and mortality of wild-type and V122I mutant transthyretin amyloid cardiomyopathy: the Transthyretin Amyloidosis Cardiac Study (TRACS) . Am. Heart J.164 ( 2 ), 222 – 228e221 ( 2012 ).
   PubMed Web of Science ®Google Scholar
• Castano A , DrachmanBM, JudgeD, MaurerMS . Natural history and therapy of TTR-cardiac amyloidosis: emerging disease-modifying therapies from organ transplantation to stabilizer and silencer drugs . Heart Fail. Rev.20 ( 2 ), 163 – 178 ( 2015 ).
   PubMed Web of Science ®Google Scholar
• Gertz MA , KyleRA, ThibodeauSN . Familial amyloidosis: a study of 52 North American-born patients examined during a 30-year period . Mayo Clin. Proc.67 ( 5 ), 428 – 440 ( 1992 ).
   PubMed Web of Science ®Google Scholar
• Sattianayagam PT , HahnAF, WhelanCJet al. Cardiac phenotype and clinical outcome of familial amyloid polyneuropathy associated with transthyretin alanine 60 variant . Eur. Heart J.33 ( 9 ), 1120 – 1127 ( 2012 ).
   PubMed Web of Science ®Google Scholar
• Swiecicki PL , ZhenDB, MauermannMLet al. Hereditary ATTR amyloidosis: a single-institution experience with 266 patients . Amyloid22 ( 2 ), 123 – 131 ( 2015 ).
   PubMed Web of Science ®Google Scholar
• Chakraborty R , MuchtarE, GertzMA . Newer therapies for amyloid cardiomyopathy . Curr. Heart Fail. Rep.13 ( 5 ), 237 – 246 ( 2016 ).
   PubMedGoogle Scholar
• Ericzon BG , WilczekHE, LarssonMet al. Liver transplantation for hereditary transthyretin amyloidosis: after 20 years still the best therapeutic alternative? Transplantation 99 ( 9 ), 1847 – 1854 ( 2015 ).
   PubMed Web of Science ®Google Scholar
• Herlenius G , WilczekHE, LarssonM, EriczonBG . Familial Amyloidotic Polyneuropathy World Transplant Registry. Ten years of international experience with liver transplantation for familial amyloidotic polyneuropathy: results from the Familial Amyloidotic Polyneuropathy World Transplant Registry . Transplantation77 ( 1 ), 64 – 71 ( 2004 ).
   PubMed Web of Science ®Google Scholar
• Suhr OB , LarssonM, EriczonBG, WilczekHE . FAPWTR’s Investigators.Survival after transplantation in patients with mutations other than Val30Met: extracts from the FAP World Transplant Registry . Transplantation100 ( 2 ), 373 – 381 ( 2016 ).
   PubMed Web of Science ®Google Scholar
• Drent G , GravelandCW, HazenbergBP, HaagsmaEB . Quality of life in patients with familial amyloidotic polyneuropathy long-term after liver transplantation . Amyloid16 ( 3 ), 133 – 141 ( 2009 ).
   PubMed Web of Science ®Google Scholar
• Adams D , BuadesJ, SuhrO, ObiciL, CoelhoT . Preliminary assessment of neuropathy progression in patients with hereditary ATTR amyloidosis after orthotopic liver transplantation . Orphanet. J. Rare Dis.10 ( Suppl. 1 ), 25 ( 2015 ).
   PubMedGoogle Scholar
• Liepnieks JJ , ZhangLQ, BensonMD . Progression of transthyretin amyloid neuropathy after liver transplantation . Neurology75 ( 4 ), 324 – 327 ( 2010 ).
   PubMed Web of Science ®Google Scholar
• Hara R , KawajiT, AndoE, OhyaY, AndoY, TaniharaH . Impact of liver transplantation on transthyretin-related ocular amyloidosis in Japanese patients . Arch. Ophthalmol.128 ( 2 ), 206 – 210 ( 2010 ).
   PubMedGoogle Scholar
• Sekijima Y , YazakiM, OguchiKet al. Cerebral amyloid angiopathy in posttransplant patients with hereditary ATTR amyloidosis . Neurology87 ( 8 ), 773 – 781 ( 2016 ).
   PubMed Web of Science ®Google Scholar
• Yao FY , GautamM, PaleseCet al. De novo malignancies following liver transplantation: a case–control study with long-term follow-up . Clin. Transplant.20 ( 5 ), 617 – 623 ( 2006 ).
   PubMed Web of Science ®Google Scholar
• Said G , GripponS, KirkpatrickP . Tafamidis . Nat. Rev. Drug Discov.11 ( 3 ), 185 – 186 ( 2012 ).
   PubMed Web of Science ®Google Scholar
• European Medicines Agency . Summary of product characteristics: Vyndaqel 2018 . http://www.ema.europa.eu/docs/en_GB/document_library/EPAR_-_Product_Information/human/002294/WC500117862.pdf .
   Google Scholar
• Coelho T , MaiaLF, Martins da SilvaAet al. Tafamidis for transthyretin familial amyloid polyneuropathy: a randomized, controlled trial . Neurology79 ( 8 ), 785 – 792 ( 2012 ).
   PubMed Web of Science ®Google Scholar
• Lozeron P , TheaudinM, MinchevaZet al. Effect on disability and safety of tafamidis in late onset of Met30 transthyretin familial amyloid polyneuropathy . Eur. J. Neurol.20 ( 12 ), 1539 – 1545 ( 2013 ).
   PubMed Web of Science ®Google Scholar
• Ando Y , SekijimaY, ObayashiKet 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.362, 266 – 271 ( 2016 ).
   PubMed Web of Science ®Google Scholar
• Cortese A , VitaG, LuigettiMet al. Monitoring effectiveness and safety of tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic area . J. Neurol.263 ( 5 ), 916 – 924 ( 2016 ).
   PubMed Web of Science ®Google Scholar
• Plante-Bordeneuve V , GorramF, SalhiHet al. Long-term treatment of transthyretin familial amyloid polyneuropathy with tafamidis: a clinical and neurophysiological study . J. Neurol.264 ( 2 ), 268 – 276 ( 2017 ).
   PubMed Web of Science ®Google Scholar
• Maurer MS , SchwartzJH, GundapaneniBet al. Tafamidis treatment for patients with transthyretin amyloid cardiomyopathy . N. Engl. J. Med.379 ( 11 ), 1007 – 1016 ( 2018 ).
   PubMed Web of Science ®Google Scholar
• Sekijima Y , DendleMA, KellyJW . Orally administered diflunisal stabilizes transthyretin against dissociation required for amyloidogenesis . Amyloid13 ( 4 ), 236 – 249 ( 2006 ).
   PubMed Web of Science ®Google Scholar
• Berk JL , SuhrOB, ObiciLet al. Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial . JAMA310 ( 24 ), 2658 – 2667 ( 2013 ).
   PubMed Web of Science ®Google Scholar
• Quarta CC , FalkRH, SolomonSDet al. The prevalence of cardiac amyloidosis in familial amyloidotic polyneuropathy with predominant neuropathy: the diflunisal trial . XVth International Symposium on Amyloidosis (ISA), Indianapolis, IN, USA, April 27–May 12014 .
   Google Scholar
• Castano A , HelmkeS, AlvarezJ, DelisleS, MaurerMS . Diflunisal for ATTR cardiac amyloidosis . Congest. Heart Fail.18 ( 6 ), 315 – 319 ( 2012 ).
   PubMedGoogle Scholar
• Sekijima Y , TojoK, MoritaH, KoyamaJ, YazakiM, IkedaS . Safety and efficacy of long-term diflunisal administration in familial amyloid polyneuropathy – summary of ten years therapeutic experience . Presented at: XVth International Symposium on Amyloidosis (ISA), Indianapolis, IN, USA, 27 April–1 May 2014 .
   Google Scholar
• Hernandez-Diaz S , RodriguezLA . Association between nonsteroidal anti-inflammatory drugs and upper gastrointestinal tract bleeding/perforation: an overview of epidemiologic studies published in the 1990s . Arch. Intern. Med.160 ( 14 ), 2093 – 2099 ( 2000 ).
   PubMedGoogle Scholar
• Reddy KS , RoyA . Cardiovascular risk of NSAIDs: time to translate knowledge into practice . PLoS Med.10 ( 2 ), e1001389 ( 2013 ).
   PubMed Web of Science ®Google Scholar
• Singh BK , HaqueSE, PillaiKK . Assessment of nonsteroidal anti-inflammatory drug-induced cardiotoxicity . Expert Opin. Drug Metab. Toxicol.10 ( 2 ), 143 – 156 ( 2014 ).
   PubMed Web of Science ®Google Scholar
• European Medicines Agency . Summary of product characteristics: Tegsedi 284mg solution for injection in pre-filled syringe ( 2018 ). www.ema.europa.eu/documents/product-information/tegsedi-epar-product-information_en.pdf .
   Google Scholar
• Akcea Therapeutics Inc . US prescribing information: TEGSEDI™ (inotersen) injection, for subcutaneous use ( 2018 ). https://tegsedi.com/wp-content/uploads/2018/10/prescribing-information.pdf .
   Google Scholar
• Benson MD , Waddington-CruzM, BerkJLet al. Inotersen treatment for patients with hereditary transthyretin amyloidosis . N. Engl. J. Med.379 ( 1 ), 22 – 31 ( 2018 ).
   PubMed Web of Science ®Google Scholar
• Cardoso I , MartinsD, RibeiroT, MerliniG, SaraivaMJ . Synergy of combined doxycycline/TUDCA treatment in lowering Transthyretin deposition and associated biomarkers: studies in FAP mouse models . J. Transl. Med.8, 74 ( 2010 ).
   PubMed Web of Science ®Google Scholar
• Obici L , PerliniS, PalladiniGet al. A Phase II study of doxycycline plus tauroursodeoxycholic acid in transthyretin amyloidosis . XIVth International Symposium on Amyloidosis (ISA), Uppsala, Sweden ( 2016 ). Poster PA96 .
   Google Scholar
• Galant NJ , Bugyei-TwumA, RakhitRet al. Substoichiometric inhibition of transthyretin misfolding by immune-targeting sparsely populated misfolding intermediates: a potential diagnostic and therapeutic for TTR amyloidoses . Sci. Rep.6, 25080 ( 2016 ).
   PubMed Web of Science ®Google Scholar
• Higaki JN , ChakrabarttyA, GalantNJet al. Novel conformation-specific monoclonal antibodies against amyloidogenic forms of transthyretin . Amyloid23 ( 2 ), 86 – 97 ( 2016 ).
   PubMed Web of Science ®Google Scholar
• Holmgren G , SteenL, EkstedtJet al. Biochemical effect of liver transplantation in two Swedish patients with familial amyloidotic polyneuropathy (FAP-met30) . Clin. Genet.40 ( 3 ), 242 – 246 ( 1991 ).
   PubMed Web of Science ®Google Scholar
• Soprano DR , HerbertJ, SopranoKJ, SchonEA, GoodmanDS . Demonstration of transthyretin mRNA in the brain and other extrahepatic tissues in the rat . J. Biol. Chem.260 ( 21 ), 11793 – 11798 ( 1985 ).
   PubMed Web of Science ®Google Scholar
• Alnylam Pharmaceuticals . US prescribing information: ONPATTRO (patisiran) lipid complex injection, for intravenous use . www.accessdata.fda.gov/drugsatfda_docs/label/2018/210922s000lbl.pdf .
   Google Scholar
• European Medicines Agency . Summary of opinion (initial authorisation): Onpattro (patisiran) ( 2018 ). https://www.ema.europa.eu/documents/smop-initial/chmp-summary-positive-opinion-onpattro_en.pdf .
   Google Scholar
• Haagsma EB , Van GamerenI, BijzetJ, PosthumusMD, HazenbergBP . Familial amyloidotic polyneuropathy: long-term follow-up of abdominal fat tissue aspirate in patients with and without liver transplantation . Amyloid14 ( 3 ), 221 – 226 ( 2007 ).
   PubMed Web of Science ®Google Scholar
• Tsuchiya A , YazakiM, KametaniF, TakeiY, IkedaS . Marked regression of abdominal fat amyloid in patients with familial amyloid polyneuropathy during long-term follow-up after liver transplantation . Liver Transpl.14 ( 4 ), 563 – 570 ( 2008 ).
   PubMed Web of Science ®Google Scholar
• Lachmann HJ , GallimoreR, GillmoreJDet al. Outcome in systemic AL amyloidosis in relation to changes in concentration of circulating free immunoglobulin light chains following chemotherapy . Br. J. Haematol.122 ( 1 ), 78 – 84 ( 2003 ).
   PubMed Web of Science ®Google Scholar
• Palladini G , DispenzieriA, GertzMAet 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.30 ( 36 ), 4541 – 4549 ( 2012 ).
   PubMed Web of Science ®Google Scholar
• Lachmann HJ , GoodmanHJ, GilbertsonJAet al. Natural history and outcome in systemic AA amyloidosis . N. Engl. J. Med.356 ( 23 ), 2361 – 2371 ( 2007 ).
   PubMed Web of Science ®Google Scholar
• Gillmore JD , LovatLB, PerseyMR, PepysMB, HawkinsPN . Amyloid load and clinical outcome in AA amyloidosis in relation to circulating concentration of serum amyloid A protein . Lancet358 ( 9275 ), 24 – 29 ( 2001 ).
   PubMed Web of Science ®Google Scholar
• Adams D , SamuelD, Goulon-GoeauCet al. The course and prognostic factors of familial amyloid polyneuropathy after liver transplantation . Brain123 ( Pt 7 ), 1495 – 1504 ( 2000 ).
   PubMed Web of Science ®Google Scholar
• Hannon GJ . RNA interference . Nature418 ( 6894 ), 244 – 251 ( 2002 ).
   PubMed Web of Science ®Google Scholar
• Coelho T , AdamsD, SilvaAet al. Safety and efficacy of RNAi therapy for transthyretin amyloidosis . N. Engl. J. Med.369 ( 9 ), 819 – 829 ( 2013 ).
   PubMed Web of Science ®Google Scholar
• Crooke ST . Antisense strategies . Curr. Mol. Med.4 ( 5 ), 465 – 487 ( 2004 ).
   PubMed Web of Science ®Google Scholar
• Elbashir SM , HarborthJ, LendeckelW, YalcinA, WeberK, TuschlT . Duplexes of 21-nucleotide RNAs mediate RNA interference in cultured mammalian cells . Nature411 ( 6836 ), 494 – 498 ( 2001 ).
   PubMed Web of Science ®Google Scholar
• Huang SK , MayhewE, GilaniS, LasicDD, MartinFJ, PapahadjopoulosD . Pharmacokinetics and therapeutics of sterically stabilized liposomes in mice bearing C-26 colon carcinoma . Cancer Res.52 ( 24 ), 6774 – 6781 ( 1992 ).
   PubMed Web of Science ®Google Scholar
• Kulkarni JA , CullisPR, van der MeelR . Lipid nanoparticles enabling gene therapies: from concepts to clinical utility . Nucleic Acid Ther.28 ( 3 ), 146 – 157 ( 2018 ).
   PubMed Web of Science ®Google Scholar
• Goncalves P , MartinsH, CostelhaS, SaraivaMJ . Efficiency of siRNA for removal of transthyretin V30M in a TTR leptomeningeal animal model . Amyloid24 ( Suppl. 1 ), 38 – 39 ( 2017 ).
   PubMedGoogle Scholar
• Suhr OB , CoelhoT, BuadesJet al. Efficacy and safety of patisiran for familial amyloidotic polyneuropathy: a Phase II multi-dose study . Orphanet. J. Rare Dis.10, 109 ( 2015 ).
   PubMed Web of Science ®Google Scholar
• Adams D , Gonzalez-DuarteA, O’RiordanWDet al. Patisiran, an RNAi therapeutic, for hereditary transthyretin amyloidosis . N. Engl. J. Med.379 ( 1 ), 11 – 21 ( 2018 ).
   PubMed Web of Science ®Google Scholar
• Berk J , AdamsD, SuhrOet al. Long-term, open-label clinical experience with patisiran, an investigational RNAi therapeutic for patients with hereditary transthyretin-mediated (hATTR) amyloidosis with polyneuropathy . Orphanet. J. Rare Dis.12 ( Suppl. 1 ), 165 ( 2017 ).
   Google Scholar
• Coelho T , SuhrOB, ConceicaoIet al. Relationship between TTR knockdown and change in mNIS+7: Preliminary correlation findings from the phase 2 open-label extension study of patisiran, an investigational RNAi therapeutic for hereditary ATTR amyloidosis with polyneuropathy . Presented at: XIVth International Symposium On Amyloidosis (ISA), Uppsula, Sweden, 3–7 July 2016 .
   Google Scholar
• Adams D , CoelhoT, ConceicaoIet al. Phase 2 open-label extension (OLE) study of patisiran, an investigational RNAi therapeutic for the treatment of polyneuropathy due to hereditary ATTR (hATTR) amyloidosis: Final 24-month data . American Academy of Neurology (AAN), Boston, MA, USAApril 22–28 2017 .
   Google Scholar
• Adams D , SuhrOB, DyckPJet al. Trial design and rationale for APOLLO, a Phase 3, placebo-controlled study of patisiran in patients with hereditary ATTR amyloidosis with polyneuropathy . BMC. Neurol.17 ( 1 ), 181 ( 2017 ).
   PubMed Web of Science ®Google Scholar
• Vinik EJ , VinikAI, PaulsonJFet al. Norfolk QOL-DN: validation of a patient reported outcome measure in transthyretin familial amyloid polyneuropathy . J. Peripher. Nerv. Syst.19 ( 2 ), 104 – 114 ( 2014 ).
   PubMed Web of Science ®Google Scholar
• Solomon SD , AdamsD, KristenAet al. Effects of patisiran, an RNA interference therapeutic, on cardiac parameters in patients with hereditary transthyretin-mediated amyloidosis: an analysis of the APOLLO study . Circulation ( 2018 ) ( In press ).
   Web of Science ®Google Scholar
• Quarta CC , SolomonSD, UraizeeIet al. Left ventricular structure and function in transthyretin-related versus light-chain cardiac amyloidosis . Circulation129 ( 18 ), 1840 – 1849 ( 2014 ).
   PubMed Web of Science ®Google Scholar
• Suhr OB , Gonzalez-DuarteA, O’RiordanWet al. Long-term use of patisiran, an investigational RNAi therapeutic, in patients with hereditary transthyretin-mediated amyloidosis: baseline demographics and interim data form global open label extension study . Presented at: XVIth International Symposium On Amyloidosis (ISA), Kumamoto, Japan . 26–29 March 2018 .
   Google Scholar
• Adams D , Gonzalez-DuarteA, O’RiordanWet al. Patisiran, an investigational RNAi therapeutic for the treatment of hereditary ATTR amyloidosis with polyneuropathy: results from the Phase 3 APOLLO study . Orphanet. J. Rare Dis.12 ( Suppl. 1 ), 165 ( 2017 ).
   Google Scholar
• Polydefkis M , AdamsD, KristenAet al. Infusion Related Reactions in Patients With hATTR Amyloidosis Treated With Patisiran . Peripheral Nerve Society (PNS), Baltimore, MD, USA ( 2018 ).
   Google Scholar
• Taubel J , ZimmermannT, KarstenVet al. Phase 1 study of ALN-TTRsc02, a subcutaneously administered investigational RNAi therapeutic for the treatment of transthyretin-mediated amyloidosis . Presented at: XVIth International Symposium On Amyloidosis (ISA), Kumamoto, Japan26–29 March 2018 .
   Google Scholar