Novel drugs targeting transthyretin amyloidosis

Current Heart Failure Reports

Volumn 11, Issue 1, 2014, Pages 50-57

  Hanna, Mazen ^a  

^a LERNER RESEARCH INSTITUTE   (United States)

Author keywords

Amyloid; Amyloidosis; Cardiac; Cardiomyopathy; Drugs; Familial; Hereditary; Neuropathy; Pharmacologic; Senile; Therapy; Transthyretin

Indexed keywords

AMYLOID; ANTIDIARRHEAL AGENT; ANTISENSE OLIGONUCLEOTIDE; DIFLUNISAL; DIURETIC AGENT; DOXYCYCLINE; EPIGALLOCATECHIN GALLATE; MESSENGER RNA; MIDODRINE; PATISIRAN; PREALBUMIN; SERUM AMYLOID P; SMALL INTERFERING RNA; TAFAMIDIS; TETRAMER;

ADVERSE OUTCOME; AMYLOIDOSIS; ANTISENSE THERAPY; ARTICLE; CLEARANCE; DIURETIC THERAPY; DRUG TARGETING; GENETIC DISORDER; HUMAN; LIVER CELL; LIVER GRAFT; MULTICENTER STUDY (TOPIC); NONHUMAN; NONVIRAL GENE DELIVERY SYSTEM; NONVIRAL GENE THERAPY; PATHOGENESIS; PATHOPHYSIOLOGY; PHASE 1 CLINICAL TRIAL (TOPIC); PHASE 2 CLINICAL TRIAL (TOPIC); PHASE 3 CLINICAL TRIAL (TOPIC); RANDOMIZED CONTROLLED TRIAL (TOPIC); RNA INTERFERENCE; SENILE SYSTEMIC AMYLOIDOSIS; SODIUM RESTRICTION; SYSTEMIC DISEASE; TRANSTHYRETIN AMYLOIDOSIS;

AMYLOID NEUROPATHIES, FAMILIAL; CARDIOMYOPATHY, RESTRICTIVE; HUMANS; MOLECULAR TARGETED THERAPY; MUTATION; PREALBUMIN;

EID: 84896725893     PISSN: 15469530     EISSN: 15469549     Source Type: Journal    
DOI: 10.1007/s11897-013-0182-4     Document Type: Article

References (61)

1. Merlini G, Bellotti V. Molecular mechanisms of amyloidosis. N Engl J Med. 2003;349(6):583-96. (Pubitemid 36951371)
2. Shah KB, Inoue Y, Mehra MR. Amyloidosis and the heart: a comprehensive review. Arch Intern Med. 2006;166(17):1805-13. (Pubitemid 44455160)
3. Falk RH, Dubrey SW. Amyloid heart disease. Prog Cardiovasc Dis. 2010;52(4):347-61.
4. Esplin BL, Gertz MA. Current trends in diagnosis and management of cardiac amyloidosis. Curr Probl Cardiol. 2013;38(2):53-96. This is an outstanding and comprehensive review of cardiac amyloidsois with guest commentary by Rodney Falk.
5. Dubrey SW et al. The clinical features of immunoglobulin light-chain (AL) amyloidosis with heart involvement. QJM. 1998;91(2):141-57. (Pubitemid 28102667)
6. Dungu JN et al. Cardiac transthyretin amyloidosis. Heart. 2012;98(21):1546-54. Excellent review of Transhyretin Cardiac amyloidosis with multiple images and instructive figures.
7. Zeldenrust SR, Cooper LT. Getting to the heart of the matter: cardiac involvement in transthyretin-related amyloidosis. Eur Heart J. 2013;34(7):483-5.
8. Rapezzi C et al. Systemic cardiac amyloidoses: disease profiles and clinical courses of the 3 main types. Circulation. 2009;120(13):1203-12.
9. Nomenclature. Nomenclature Committee of IUB. IUB-IUPAC Joint Commission on Biochemical Nomenclature. Arch Biochem Biophys. 1981;206(2):458-62.
10. Robbins J. Transthyretin from discovery to now. Clin Chem Lab Med. 2002;40(12):1183-90. (Pubitemid 36024655)
11. Arruda-Olson AM et al. Genotype, echocardiography, and survival in familial transthyretin amyloidosis. Amyloid. 2013;20(4):263-8.
12. Ruberg FL, Berk JL. Transthyretin (TTR) cardiac amyloidosis. Circulation. 2012;126(10):1286-300. Comprehensive up-to date review of transthyretin cardiac amyloidosis outlining epidemiology, pathogenesis, diagnosis, and treatment. It includes a summary of emerging treatments.
13. Ihse E et al. Amyloid fibril composition is related to the phenotype of hereditary transthyretin V30M amyloidosis. J Pathol. 2008;216(2):253-61.
14. Lobato L. Portuguese-type amyloidosis (transthyretin amyloidosis, ATTR V30M). J Nephrol. 2003;16(3):438-42. (Pubitemid 36773197)
15. Jacobson DR et al. Variant-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in black Americans. N Engl J Med. 1997;336(7):466-73. (Pubitemid 27074357)
16. Yamashita T et al. A prospective evaluation of the transthyretin Ile122 allele frequency in an African-American population. Amyloid. 2005;12(2):127-30. (Pubitemid 40978722)
17. Buxbaum J et al. Transthyretin V122I in African Americans with congestive heart failure. J Am Coll Cardiol. 2006;47(8):1724-5.
18. Ruberg FL et 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. 2012;164(2):222-8. e1.
19. Pitkanen P, Westermark P, Cornwell 3rd GG. Senile systemic amyloidosis. Am J Pathol. 1984;117(3):391-9. (Pubitemid 15182480)
20. Pinney JH et al. Senile systemic amyloidosis: clinical features at presentation and outcome. J Am Heart Assoc. 2013;2(2):e000098.
21. Ng B et al. Senile systemic amyloidosis presenting with heart failure: a comparison with light chain-associated amyloidosis. Arch Intern Med. 2005;165(12):1425-9. (Pubitemid 40973426)
22. Cornwell 3rd GG et al. Frequency and distribution of senile cardiovascular amyloid. A clinicopathologic correlation. Am J Med. 1983;75(4):618-23.
23. Tanskanen M et al. Senile systemic amyloidosis affects 25 % of the very aged and associates with genetic variation in alpha2-macroglobulin and tau: a population-based autopsy study. Ann Med. 2008;40(3):232-9. (Pubitemid 351482541)
24. Sekijima Y, Kelly JW, Ikeda S. Pathogenesis of and therapeutic strategies to ameliorate the transthyretin amyloidoses. Curr Pharm Des. 2008;14(30):3219-30.
25. Bulawa CE et al. Tafamidis, a potent and selective transthyretin kinetic stabilizer that inhibits the amyloid cascade. Proc Natl Acad Sci U S A. 2012;109(24):9629-34.
26. Gillmore JD et al. Sustained pharmacological depletion of serum amyloid P component in patients with systemic amyloidosis. Br J Haematol. 2010;148(5):760-7.
27. Benson MD. Pathogenesis of transthyretin amyloidosis. Amyloid. 2012;19 Suppl 1:14-5. A concise two page summary of the pathogenesis of transhyretin amyloid, summarizing what we know and what we don't know. Excellent read.
28. Zhao L, Buxbaum JN, Reixach N. Age-related oxidative modifications of transthyretin modulate its amyloidogenicity. Biochemistry. 2013;52(11):1913-26.
29. Holmgren G et al. Biochemical effect of liver transplantation in two Swedish patients with familial amyloidotic polyneuropathy (FAP-met30). Clin Genet. 1991;40(3):242-6.
30. Pomfret EA et al. Effect of orthotopic liver transplantation on the progression of familial amyloidotic polyneuropathy. Transplantation. 1998;65(7):918-25. (Pubitemid 28201443)
31. Sharma P et al. Outcome of liver transplantation for familial amyloidotic polyneuropathy. Liver Transpl. 2003;9(12):1273-80. (Pubitemid 37536798)
32. Ericzon BG et al. Liver transplantation halts the progress of familial amyloidotic polyneuropathy. Transplant Proc. 1995;27(1):1233.
33. Suhr OB et al. Liver transplantation in familial amyloidotic polyneuropathy. Follow-up of the first 20 Swedish patients. Transplantation. 1995;60(9):933-8.
34. Yamamoto S et al. Liver transplantation for familial amyloidotic polyneuropathy (FAP): a single-center experience over 16 years. Am J Transplant. 2007;7(11):2597-604. (Pubitemid 47561612)
35. Okamoto S et al. Prognostic value of pre-transplant cardiomyopathy in Swedish liver transplanted patients for familial amyloidotic polyneuropathy. Amyloid. 2011;18 Suppl 1:171-3.
36. Nelson LM et al. Long-term outcome in patients treated with combined heart and liver transplantation for familial amyloidotic cardiomyopathy. Clin Transplant. 2013;27(2):203-9.
37. Hamour IM et al. Heart transplantation for homozygous familial transthyretin (TTR) V122I cardiac amyloidosis. Am J Transplant. 2008;8(5):1056-9. (Pubitemid 351537754)
38. Lachmann HJ. A new era in the treatment of amyloidosis? N Engl J Med. 2013;369(9):866-8. A very insightful editorial in response to the New England Journal publication about small interfering RNA treatment in TTR amyloid. This summarizes the current issues and strategies very well.
39. Coelho T et al. Safety and efficacy of RNAi therapy for transthyretin amyloidosis. N Engl J Med. 2013;369(9):819-29. Along with antisense oligonucleotides, this is a major breakthrough and publication in the field. Getting published in the New England Journal of Medicine has brought transthyretin amyloidosis into greater awareness amongst physicians.
40. Malik R, Roy I. Making sense of therapeutics using antisense technology. Expert Opin Drug Discov. 2011;6(5):507-26.
41. Ackermann EJ et al. Clinical development of an antisense therapy for the treatment of transthyretin-associated polyneuropathy. Amyloid. 2012;19 Suppl 1:43-4.
42. Adamski-Werner SL et al. Diflunisal analogues stabilize the native state of transthyretin. Potent inhibition of amyloidogenesis. J Med Chem. 2004;47(2):355-74. (Pubitemid 38057880)
43. Gales L et al. Human transthyretin in complex with iododiflunisal: structural features associated with a potent amyloid inhibitor. Biochem J. 2005;388(Pt 2):615-21. (Pubitemid 40839939)
44. Sekijima Y, Dendle MA, Kelly JW. Orally administered diflunisal stabilizes transthyretin against dissociation required for amyloidogenesis. Amyloid. 2006;13(4):236-49. (Pubitemid 44764463)
45. Castano A et al. Diflunisal for ATTR cardiac amyloidosis. Congest Heart Fail. 2012;18(6):315-9.
46. Berk JL et al. Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial. JAMA. 2013;310(24):2658-67. This is the only randomized placebo-controlled trial in transthyretin amyloidosis that has met its primary endpoint. This landmark clincial trial will likely lead to the approval of Diflunisal for the indication of FAP.
47. Coelho T et al. Tafamidis for transthyretin familial amyloid polyneuropathy: a randomized, controlled trial. Neurology. 2012;79(8):785-92. This was the first randomized placebo-controlled trial in transthyretin amyloidosis. Although the primary endpoint was not met, the results led to the approval of Tafamdis in Europe.
48. Cardoso I, Saraiva MJ. Doxycycline disrupts transthyretin amyloid: evidence from studies in a FAP transgenic mice model. FASEB J. 2006;20(2):234-9. (Pubitemid 44933170)
49. Ward JE et al. Doxycycline reduces fibril formation in a transgenic mouse model of AL amyloidosis. Blood. 2011;118(25):6610-7.
50. Cardoso I et al. Synergy of combined doxycycline/TUDCA treatment in lowering Transthyretin deposition and associated biomarkers: studies in FAP mouse models. J Transl Med. 2010;8:74.
51. Obici L et al. Doxycycline plus tauroursodeoxycholic acid for transthyretin amyloidosis: a phase II study. Amyloid. 2012;19 Suppl 1:34-6.
52. Ferreira N et al. Binding of epigallocatechin-3-gallate to transthyretin modulates its amyloidogenicity. FEBS Lett. 2009;583(22):3569-76.
53. Ferreira N, Saraiva MJ, Almeida MR. Natural polyphenols inhibit different steps of the process of transthyretin (TTR) amyloid fibril formation. FEBS Lett. 2011;585(15):2424-30.
54. Palhano FL et al. Toward the molecular mechanism(s) by which EGCG treatment remodels mature amyloid fibrils. J Am Chem Soc. 2013;135(20):7503-10.
55. Miyata M et al. The crystal structure of the green tea polyphenol (-)-epigallocatechin gallate-transthyretin complex reveals a novel binding site distinct from the thyroxine binding site. Biochemistry. 2010;49(29):6104-14.
56. Mereles D et al. Effects of the main green tea polyphenol epigallocatechin-3-gallate on cardiac involvement in patients with AL amyloidosis. Clin Res Cardiol. 2010;99(8):483-90.
57. Kristen AV et al. Green tea halts progression of cardiac transthyretin amyloidosis: an observational report. Clin Res Cardiol. 2012;101(10):805-13.
58. Pepys MB et al. Binding of serum amyloid P-component (SAP) by amyloid fibrils. Clin Exp Immunol. 1979;38(2):284-93. (Pubitemid 10196196)
59. Hohenester E et al. Crystal structure of a decameric complex of human serum amyloid P component with bound dAMP. J Mol Biol. 1997;269(4):570-8. (Pubitemid 27267870)
60. Botto M et al. Amyloid deposition is delayed in mice with targeted deletion of the serum amyloid P component gene. Nat Med. 1997;3(8):855-9. (Pubitemid 27353444)
61. Bodin K et al. Antibodies to human serum amyloid P component eliminate visceral amyloid deposits. Nature. 2010;468(7320):93-7.