Monitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic area

Journal of Neurology

Volumn 263, Issue 5, 2016, Pages 916-924

  Cortese, A ^a   Vita, G ^b,c   Luigetti, M ^d   Russo, M ^c   Bisogni, G ^d   Sabatelli, M ^d   Manganelli, F ^e   Santoro, L ^e   Cavallaro, T ^f   Fabrizi, G M ^f   Schenone, A ^g   Grandis, M ^g   Gemelli, C ^g   Mauro, A ^h   Pradotto, L G ^h   Gentile, L ^b   Stancanelli, C ^b,i   Lozza, A ^a   Perlini, S ^j   Piscosquito, G ^k   Calabrese, D ^k   Mazzeo, A ^b   Obici, L ^l   Pareyson, D ^k   more..

^a C MONDINO NATIONAL NEUROLOGICAL INSTITUTE   (Italy)

^b UNIVERSITY OF MESSINA   (Italy)

^c Fondazione Aurora Onlus   (Italy)

^d CATHOLIC UNIVERSITY   (Italy)

^e UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^f UNIVERSITY OF VERONA   (Italy)

^g UNIVERSITY OF GENOA   (Italy)

^h ISTITUTO AUXOLOGICO ITALIANO   (Italy)

ⁱ UNIVERSITY OF PALERMO   (Italy)

^j UNIVERSITY OF PAVIA   (Italy)

^k DEPARTMENT OF NEUROSURGERY   (Italy)

^l FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

more..

Author keywords

Amyloid polyneuropathy; Tafamidis; Transthyretin

Indexed keywords

TAFAMIDIS; BENZOXAZOLE DERIVATIVE; PREALBUMIN;

ADULT; AMYLOIDOSIS; ARTICLE; BODY WEIGHT; CARDIOMYOPATHY; CLINICAL ARTICLE; CONTROLLED STUDY; DIARRHEA; DRUG EFFICACY; DRUG SAFETY; DRUG WITHDRAWAL; ECHOCARDIOGRAPHY; FEMALE; FOLLOW UP; GASTROENTERITIS; GENE MUTATION; HEART CONDUCTION; HEART DISEASE; HEART FAILURE; HEART FUNCTION; HUMAN; ITALY; LONGITUDINAL STUDY; MALE; MULTICENTER STUDY; NEUROPATHY; NEW YORK HEART ASSOCIATION CLASS; OBSERVATIONAL STUDY; ONSET AGE; PRIORITY JOURNAL; STOMATITIS; TRANSTHYRETIN AMYLOIDOSIS; URINARY TRACT INFECTION; WALKING DIFFICULTY; AGED; AMYLOID NEUROPATHIES, FAMILIAL; CLINICAL TRIAL; DISEASE COURSE; GENETICS; MIDDLE AGED; MUTATION; PROGNOSIS; SEVERITY OF ILLNESS INDEX; TREATMENT OUTCOME; VERY ELDERLY;

ADULT; AGED; AGED, 80 AND OVER; AMYLOID NEUROPATHIES, FAMILIAL; BENZOXAZOLES; DISEASE PROGRESSION; FEMALE; FOLLOW-UP STUDIES; HUMANS; ITALY; LONGITUDINAL STUDIES; MALE; MIDDLE AGED; MUTATION; PREALBUMIN; PROGNOSIS; SEVERITY OF ILLNESS INDEX; TREATMENT OUTCOME;

EID: 84961207014     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-016-8064-9     Document Type: Article

References (33)

1. Planté-Bordeneuve V, Said G (2011) Familial amyloid polyneuropathy. Lancet Neurol 10(12):1086–1097
2. Koike H, Tanaka F, Hashimoto R, Tomita M, Kawagashira Y, Iijima M et al (2012) Natural history of transthyretin Val30Met familial amyloid polyneuropathy: analysis of late-onset cases from non-endemic areas. J Neurol Neurosurg Psychiatry 83(2):152–158
3. Herlenius G, Wilczek HE, Larsson M, Ericzon B-G, Familial Amyloidotic Polyneuropathy World Transplant Registry (2004) Ten years of international experience with liver transplantation for familial amyloidotic polyneuropathy: results from the Familial Amyloidotic Polyneuropathy World Transplant Registry. Transplantation 77(1):64–71
4. Okamoto S, Wixner J, Obayashi K, Ando Y, Ericzon B-G, Friman S et al (2009) Liver transplantation for familial amyloidotic polyneuropathy: impact on Swedish patients’ survival. Liver Transplant 15(10):1229–1235
5. Suhr OB, Friman S, Ericzon B-G (2005) Early liver transplantation improves familial amyloidotic polyneuropathy patients’ survival. Amyloid 12(4):233–238
6. Yamashita T, Ando Y, Okamoto S, Misumi Y, Hirahara T, Ueda M et al (2012) Long-term survival after liver transplantation in patients with familial amyloid polyneuropathy. Neurology 78(9):637–643
7. Adams D, Samuel D, Goulon-Goeau C, Nakazato M, Costa PM, Feray C et al (2000) The course and prognostic factors of familial amyloid polyneuropathy after liver transplantation. Brain 123(Pt 7):1495–1504
8. Coelho T, Maia LF, Martins da Silva A, Waddington Cruz M, Planté-Bordeneuve V, Lozeron P et al (2012) Tafamidis for transthyretin familial amyloid polyneuropathy: a randomized, controlled trial. Neurology 79(8):785–792
9. Coelho T, Maia LF, da Silva AM, Cruz MW, Planté-Bordeneuve V, Suhr OB et al (2013) Long-term effects of tafamidis for the treatment of transthyretin familial amyloid polyneuropathy. J Neurol 260(11):2802–2814
10. Lozeron P, Théaudin M, Mincheva Z, Ducot B, Lacroix C, Adams D, et al. (2013) Effect on disability and safety of Tafamidis in late onset of Met30 transthyretin familial amyloid polyneuropathy 20(12):1539–45
11. Merlini G, Planté-Bordeneuve V, Judge DP, Schmidt H, Obici L, Perlini S et al (2013) Effects of tafamidis on transthyretin stabilization and clinical outcomes in patients with non-Val30Met transthyretin amyloidosis. J Cardiovasc Transl Res 6(6):1011–1020
12. Mariani LL, Lozeron P, Théaudin M, Mincheva Z, Signate A, Ducot B et al (2015) Genotype-phenotype correlation and course of transthyretin familial amyloid polyneuropathies in France. Ann Neurol 78(6):901–916
13. Dyck PJ, Davies JL, Litchy WJ, O’Brien PC (1997) Longitudinal assessment of diabetic polyneuropathy using a composite score in the Rochester Diabetic Neuropathy Study cohort. Neurology 49(1):229–239
14. Tashima K, Ando Y, Ando E, Tanaka Y, Ando M, Uncino M (1997) Amyloid. Heterogenous clininical symptoms in patients with familial amyloidotic polyneuropathy FAP-TTR Met30 4:108–11
15. Murphy SM, Herrmann DN, McDermott MP, Scherer SS, Shy ME, Reilly MM et al (2011) Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease. J Peripher Nerv Syst 16(3):191–198
16. Coutinho P, Martins da Silva A, Lopes Lima J, Resende Barbosa A (1980) Forty years of experience with type I amyloid neuropathy. Review of 483 cases. In: Glenner GG, Pinho e Costa P, de Falcao Freitas A (eds) Amyloid and amyloidosis. Excerpta Medica, Amsterdam, pp 88–98
17. Ando Y, Coelho T, Berk JL, Cruz MW, Ericzon BG, Ikeda S et al (2013) Guideline of transthyretin-related hereditary amyloidosis for clinicians. Orphanet J Rare Dis 8:31
18. Suhr OB, Conceição IM, Karayal ON, Mandel FS, Huertas PE, Ericzon B-G (2014) Post hoc analysis of nutritional status in patients with transthyretin familial amyloid polyneuropathy: impact of tafamidis. Neurol Ther 3(2):101–112
19. Lehrke S, Steen H, Kristen AV, Merten C, Lossnitzer D, Dengler TJ et al (2009) Serum levels of NT-proBNP as surrogate for cardiac amyloid burden: new evidence from gadolinium-enhanced cardiac magnetic resonance imaging in patients with amyloidosis. Amyloid 16(4):187–195
20. Cohen J (1997) Statistical power analysis for the behavioral sciences. Academic Press Inc., New York
21. (1995) Diabetic polyneuropathy in controlled clinical trials: consensus report of the peripheral nerve society. Ann Neurol 38(3):478–82
22. Adams D, Coelho T, Obici L, Merlini G, Mincheva Z, Suanprasert N et al (2015) Rapid progression of familial amyloidotic polyneuropathy: a multinational natural history study. Neurology 85(8):675–682
23. Mazzeo A, Russo M, Di Bella G. Transthyretin-related familial amyloid polyneuropathy (TTR-FAP): a single-center experience in Sicily, an Italian endemic area. J Neuromuscul Dis. doi: 10.3233/JND-150091 (in press)
24. Russo M, Mazzeo A, Stancanelli C, Di Leo R, Gentile L, Di Bella G et al (2012) Transthyretin-related familial amyloidotic polyneuropathy: description of a cohort of patients with Leu64 mutation and late onset. J Peripher Nerv Syst 17(4):385–390
25. Cappellari M, Cavallaro T, Ferrarini M, Cabrini I, Taioli F, Ferrari S et al (2011) Variable presentations of TTR-related familial amyloid polyneuropathy in seventeen patients. J Peripher Nerv Syst 16(2):119–129
26. Luigetti M, Conte A, Del Grande A, Bisogni G, Madia F, Lo Monaco M et al (2013) TTR-related amyloid neuropathy: clinical, electrophysiological and pathological findings in 15 unrelated patients. Neurol Sci 34(7):1057–1063
27. Rapezzi C, Quarta CC, Obici L, Perfetto F, Longhi S, Salvi F et al (2013) Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective. Eur Heart J 34(7):520–528
28. Misu KI, Hattori N, Nagamatsu M, Ikeda SI, Ando Y, Nakazato M et al (1999) Late-onset familial amyloid polyneuropathy type I (transthyretin Met30-associated familial amyloid polyneuropathy) unrelated to endemic focus in Japan. Clinicopathological and genetic features. Brain 122(Pt 10):1951–1962
29. Koike H, Misu K, Sugiura M, Iijima M, Mori K, Yamamoto M et al (2004) Pathology of early- vs late-onset TTR Met30 familial amyloid polyneuropathy. Neurology 63(1):129–138
30. Sousa MM, Cardoso I, Fernandes R, Guimarães A, Saraiva MJ (2001) Deposition of transthyretin in early stages of familial amyloidotic polyneuropathy: evidence for toxicity of nonfibrillar aggregates. Am J Pathol 159(6):1993–2000
31. Rajkumar SV, Gertz MA, Kyle RA (1998) Prognosis of patients with primary systemic amyloidosis who present with dominant neuropathy. Am J Med 104(3):232–237
32. Ericzon B-G, Wilczek HE, Larsson M, Wijayatunga P, Stangou A, Pena JR et al (2015) Liver transplantation for hereditary transthyretin amyloidosis: after 20 years still the best therapeutic alternative? Transplantation 99(9):1847–1854
33. Palorini R, Cammarata FP, Cammarata F, Balestrieri C, Monestiroli A, Vasso M et al (2013) Glucose starvation induces cell death in K-ras-transformed cells by interfering with the hexosamine biosynthesis pathway and activating the unfolded protein response. Cell Death Dis 4:e732