Cardiac Findings and Events Observed in an Open-Label Clinical Trial of Tafamidis in Patients with non-Val30Met and non-Val122Ile Hereditary Transthyretin Amyloidosis

Journal of Cardiovascular Translational Research

Volumn 8, Issue 2, 2015, Pages 117-127

  Damy, Thibaud ^a   Judge, Daniel P ^b   Kristen, Arnt V ^c   Berthet, Karine ^d   Li, Huihua ^d   Aarts, Janske ^d  

^a HENRI MONDOR HOSPITAL   (France)

^b JOHNS HOPKINS UNIVERSITY   (United States)

^c UNIVERSITY OF HEIDELBERG   (Germany)

^d PFIZER INC   (United States)

Author keywords

Cardiomyopathy; Familial amyloid polyneuropathy; Heart failure; Tafamidis; Transthyretin amyloidosis

Indexed keywords

BENZOXAZOLE DERIVATIVE; PREALBUMIN; TAFAMIDIS;

ADULT; AGED; AMYLOID NEUROPATHIES, FAMILIAL; CARDIAC MUSCLE; CARDIOMYOPATHIES; CLINICAL TRIAL; EUROPE; FEMALE; FIBROSIS; GENETIC PREDISPOSITION; GENETICS; HEART FAILURE; HUMAN; MALE; MIDDLE AGED; MULTICENTER STUDY; MUTATION; PATHOLOGY; PATHOPHYSIOLOGY; PHASE 2 CLINICAL TRIAL; PHENOTYPE; RISK FACTOR; TIME FACTOR; TREATMENT OUTCOME; UNITED STATES;

ADULT; AGED; AMYLOID NEUROPATHIES, FAMILIAL; BENZOXAZOLES; CARDIOMYOPATHIES; EUROPE; FEMALE; FIBROSIS; GENETIC PREDISPOSITION TO DISEASE; HEART FAILURE; HUMANS; MALE; MIDDLE AGED; MUTATION; MYOCARDIUM; PHENOTYPE; PREALBUMIN; RISK FACTORS; TIME FACTORS; TREATMENT OUTCOME; UNITED STATES;

EID: 84939946700     PISSN: 19375387     EISSN: 19375395     Source Type: Journal    
DOI: 10.1007/s12265-015-9613-9     Document Type: Article

References (35)

1. Rapezzi, C., Quarta, C. C., Riva, L., Longhi, S., Gallelli, I., Lorenzini, M., Ciliberti, P., Biagini, E., Salvi, F., & Branzi, A. (2010). Transthyretin-related amyloidoses and the heart: a clinical overview. Nature Reviews Cardiology, 7(7), 398–408. doi:10.1038/nrcardio.2010.67.
2. Plante-Bordeneuve, V., & Said, G. (2011). Familial amyloid polyneuropathy. Lancet Neurology, 10(12), 1086–1097. doi:10.1016/S1474-4422(11)70246-0.
3. Rapezzi, C., Quarta, C. C., Obici, L., Perfetto, F., Longhi, S., Salvi, F., Biagini, E., Lorenzini, M., Grigioni, F., Leone, O., Cappelli, F., Palladini, G., Rimessi, P., Ferlini, A., Arpesella, G., Pinna, A. D., Merlini, G., & Perlini, S. (2013). Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective. European Heart Journal, 34(7), 520–528. doi:10.1093/eurheartj/ehs123.
4. Connors, L. H., Lim, A., Prokaeva, T., Roskens, V. A., & Costello, C. E. (2003). Tabulation of human transthyretin (TTR) variants, 2003. Amyloid, 10(3), 160–184. doi:10.3109/13506120308998998.
5. Andrade, C., Araki, S., Block, W. D., Cohen, A. S., Jackson, C. E., Kuroiwa, Y., Nissim, J., Sohar, E., McKusick, V. A., & Van Allen, M. W. (1970). Hereditary amyloidosis. Arthritis and Rheumatism, 13(6), 902–915.
6. Connors, L. H., Prokaeva, T., Lim, A., Théberge, R., Falk, R. H., Doros, G., Berg, A., Costello, C. E., O’Hara, C., Seldin, D. C., & Skinner, M. (2009). Cardiac amyloidosis in African Americans: comparison of clinical and laboratory features of transthyretin V122I amyloidosis and immunoglobulin light chain amyloidosis. American Heart Journal, 158(4), 607–614. doi:10.1016/j.ahj.2009.08.006.
7. Eriksson, P., Karp, K., Bjerle, P., & Olofsson, B. O. (1984). Disturbances of cardiac rhythm and conduction in familial amyloidosis with polyneuropathy. British Heart Journal, 51(6), 658–662.
8. Rapezzi, C., Perugini, E., Salvi, F., Grigioni, F., Riva, L., Cooke, R. M., Ferlini, A., Rimessi, P., Bacchi-Reggiani, L., Ciliberti, P., Pastorelli, F., Leone, O., Bartolomei, I., Pinna, A. D., Arpesella, G., & Branzi, A. (2006). Phenotypic and genotypic heterogeneity in transthyretin-related cardiac amyloidosis: towards tailoring of therapeutic strategies? Amyloid, 13(3), 143–153. doi:10.1080/13506120600877136.
9. Jacobson, D. R., Pastore, R. D., Yaghoubian, R., Kane, I., Gallo, G., Buck, F. S., & Buxbaum, J. N. (1997). Variant-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in black Americans. New England Journal of Medicine, 336(7), 466–473. doi:10.1056/NEJM199702133360703.
10. Herlenius, G., Wilczek, H. E., Larsson, M., & Ericzon, B. G. (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. doi:10.1097/01.TP.0000092307.98347.CB.
11. Okamoto, S., Wixner, J., Obayashi, K., Ando, Y., Ericzon, B. G., Friman, S., Uchino, M., & Suhr, O. B. (2009). Liver transplantation for familial amyloidotic polyneuropathy: impact on Swedish patients’ survival. Liver Transplantation, 15(10), 1229–1235. doi:10.1002/lt.21817.
12. Yamamoto, S., Wilczek, H. E., Nowak, G., Larsson, M., Oksanen, A., Iwata, T., Gjertsen, H., Söderdahl, G., Wikström, L., Ando, Y., Suhr, O. B., & Ericzon, B. G. (2007). Liver transplantation for familial amyloidotic polyneuropathy (FAP): a single-center experience over 16 years. American Journal of Transplantation, 7(11), 2597–2604. doi:10.1111/j.1600-6143.2007.01969.x.
13. Stangou, A. J., Hawkins, P. N., Heaton, N. D., Rela, M., Monaghan, M., Nihoyannopoulos, P., O’Grady, J., Pepys, M. B., & Williams, R. (1998). Progressive cardiac amyloidosis following liver transplantation for familial amyloid polyneuropathy: implications for amyloid fibrillogenesis. Transplantation, 66(2), 229–233.
14. Hörnsten, R., Wiklund, U., Olofsson, B. O., Jensen, S. M., & Suhr, O. B. (2004). Liver transplantation does not prevent the development of life-threatening arrhythmia in familial amyloidotic polyneuropathy, Portuguese-type (ATTR Val30Met) patients. Transplantation, 78(1), 112–116.
15. Yazaki, M., Tokuda, T., Nakamura, A., Higashikata, T., Koyama, J., Higuchi, K., Harihara, Y., Baba, S., Kametani, F., & Ikeda, S. (2000). Cardiac amyloid in patients with familial amyloid polyneuropathy consists of abundant wild-type transthyretin. Biochemical and Biophysical Research Communications, 274(3), 702–706. doi:10.1006/bbrc.2000.3203.
16. Wilczek, H. E., Larsson, M., & Ericzon, B. G. (2011). Long-term data from the Familial Amyloidotic Polyneuropathy World Transplant Registry (FAPWTR). Amyloid, 18(Suppl 1), 193–195. doi:10.3109/13506129.2011.574354072.
17. Hou, X., Aguilar, M. I., & Small, D. H. (2007). Transthyretin and familial amyloidotic polyneuropathy. Recent progress in understanding the molecular mechanism of neurodegeneration. FEBS Journal, 274(7), 1637–1650. doi:10.1111/j.1742-4658.2007.05712.x.
18. Sekijima, Y., Kelly, J. W., & Ikeda, S. (2008). Pathogenesis of and therapeutic strategies to ameliorate the transthyretin amyloidoses. Current Pharmaceutical Design, 14(30), 3219–3230.
19. Johnson, S. M., Wiseman, R. L., Sekijima, Y., Green, N. S., Adamski-Werner, S. L., & Kelly, J. W. (2005). Native state kinetic stabilization as a strategy to ameliorate protein misfolding diseases: a focus on the transthyretin amyloidoses. Accounts of Chemical Research, 38(12), 911–921. doi:10.1021/ar020073i.
20. Berk, J. L., Suhr, O. B., Obici, L., Sekijima, Y., Zeldenrust, S. R., Yamashita, T., Heneghan, M. A., Gorevic, P. D., Litchy, W. J., Wiesman, J. F., Nordh, E., Corato, M., Lozza, A., Cortese, A., Robinson-Papp, J., Colton, T., Rybin, D. V., Bisbee, A. B., Ando, Y., Ikeda, S., Seldin, D. C., Merlini, G., Skinner, M., Kelly, J. W., & Dyck, P. J. (2013). Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial. JAMA, 310(24), 2658–2667. doi:10.1001/jama.2013.283815.
21. Bulawa, C. E., Connelly, S., Devit, M., Wang, L., Weigel, C., Fleming, J. A., Packman, J., Powers, E. T., Wiseman, R. L., Foss, T. R., Wilson, I. A., Kelly, J. W., & Labaudinière, R. (2012). Tafamidis, a potent and selective transthyretin kinetic stabilizer that inhibits the amyloid cascade. Proceedings of the National Academy of Sciences of the United States of America, 109(24), 9629–9634. doi:10.1073/pnas.1121005109.
22. Coelho, T., Maia, L. F., Martins da Silva, A., Waddington Cruz, M., Planté-Bordeneuve, V., Lozeron, P., Suhr, O. B., Campistol, J. M., Conceição, I. M., Schmidt, H. H., Trigo, P., Kelly, J. W., Labaudinière, R., Chan, J., Packman, J., Wilson, A., & Grogan, D. R. (2012). Tafamidis for transthyretin familial amyloid polyneuropathy: a randomized, controlled trial. Neurology, 79(8), 785–792. doi:10.1212/WNL.0b013e3182661eb1.
23. Merlini, G., Planté-Bordeneuve, V., Judge, D. P., Schmidt, H., Obici, L., Perlini, S., Packman, J., Tripp, T., & Grogan, D. R. (2013). Effects of tafamidis on transthyretin stabilization and clinical outcomes in patients with non-Val30Met transthyretin amyloidosis. Journal of Cardiovascular Translational Research, 6(6), 1011–1020. doi:10.1007/s12265-013-9512-x.
24. European Medicines Agency (2013) EMA/295794/2013—European public assessment report (EPAR) for Vyndaqel.
25. Dubrey, S. W., Davidoff, R., Skinner, M., Bergethon, P., Lewis, D., & Falk, R. H. (1997). Progression of ventricular wall thickening after liver transplantation for familial amyloidosis. Transplantation, 64(1), 74–80.
26. Gertz, M. A., Comenzo, R., Falk, R. H., Fermand, J. P., Hazenberg, B. P., Hawkins, P. N., Merlini, G., Moreau, P., Ronco, P., Sanchorawala, V., Sezer, O., Solomon, A., & Grateau, G. (2005). Definition of organ involvement and treatment response in immunoglobulin light chain amyloidosis (AL): a consensus opinion from the 10th International Symposium on Amyloid and Amyloidosis, Tours, France, 18-22 April 2004. American Journal of Hematology, 79(4), 319–328. doi:10.1002/ajh.20381.
27. McMurray, J. J., Adamopoulos, S., Anker, S. D., Auricchio, A., Böhm, M., Dickstein, K., Falk, V., Filippatos, G., Fonseca, C., Gomez-Sanchez, M. A., Jaarsma, T., Køber, L., Lip, G. Y., Maggioni, A. P., Parkhomenko, A., Pieske, B. M., Popescu, B. A., Rønnevik, P. K., Rutten, F. H., Schwitter, J., Seferovic, P., Stepinska, J., Trindade, P. T., Voors, A. A., Zannad, F., & Zeiher, A. (2012). ESC guidelines for the diagnosis and treatment of acute and chronic heart failure 2012: the task force for the diagnosis and treatment of acute and chronic heart failure 2012 of the European Society of Cardiology. developed in collaboration with the Heart Failure Association (HFA) of the ESC. European Heart Journal, 33(14), 1787–1847. doi:10.1093/eurheartj/ehs104.
28. Pomfret, E. A., Lewis, W. D., Jenkins, R. L., Bergethon, P., Dubrey, S. W., Reisinger, J., Falk, R. H., & Skinner, M. (1998). Effect of orthotopic liver transplantation on the progression of familial amyloidotic polyneuropathy. Transplantation, 65(7), 918–925.
29. Bhardwaj, A., Rehman, S. U., Mohammed, A., Baggish, A. L., Moore, S. A., & Januzzi, J. L., Jr. (2010). Design and methods of the Pro-B Type Natriuretic Peptide Outpatient Tailored Chronic Heart Failure Therapy (PROTECT) Study. American Heart Journal, 159(4), 532–538. doi:10.1016/j.ahj.2010.01.005. e531.
30. Suhr, O. B., Anan, I., Backman, C., Karlsson, A., Lindqvist, P., Morner, S., & Waldenstrom, A. (2008). Do troponin and B-natriuretic peptide detect cardiomyopathy in transthyretin amyloidosis? Journal of Internal Medicine, 263(3), 294–301. doi:10.1111/j.1365-2796.2007.01888.x.
31. Damy, T., Deux, J. F., Moutereau, S., Guendouz, S., Mohty, D., Rappeneau, S., Guellich, A., Hittinger, L., Loric, S., Lefaucheur, J. P., & Plante-Bordeneuve, V. (2013). Role of natriuretic peptide to predict cardiac abnormalities in patients with hereditary transthyretin amyloidosis. Amyloid, 20(4), 212–220. doi:10.3109/13506129.2013.825240.
32. Pinney, J. H., Whelan, C. J., Petrie, A., Dungu, J., Banypersad, S. M., Sattianayagam, P., Wechalekar, A., Gibbs, S. D., Venner, C. P., Wassef, N., McCarthy, C. A., Gilbertson, J. A., Rowczenio, D., Hawkins, P. N., Gillmore, J. D., & Lachmann, H. J. (2013). Senile systemic amyloidosis: clinical features at presentation and outcome. Journal of American Heart Association, 2(2), e000098. doi:10.1161/JAHA.113.000098.
33. Dyck, P. J., Litchy, W. J., Lehman, K. A., Hokanson, J. L., Low, P. A., & O’Brien, P. C. (1995). Variables influencing neuropathic endpoints: the Rochester diabetic neuropathy study of healthy subjects. Neurology, 45(6), 1115–1121.
34. Dyck, P. J., O’Brien, P. C., Litchy, W. J., Harper, C. M., & Klein, C. J. (2005). Monotonicity of nerve tests in diabetes: subclinical nerve dysfunction precedes diagnosis of polyneuropathy. Diabetes Care, 28(9), 2192–2200.
35. Vinik, E. J., Vinik, A. I., Paulson, J. F., Merkies, I. S., Packman, J., Grogan, D. R., & Coelho, T. (2014). Norfolk QOL-DN: validation of a patient reported outcome measure in transthyretin familial amyloid polyneuropathy. Journal of the Peripheral Nervous System, 19(2), 104–114. doi:10.1111/jns5.12059.