Familial hypercholesterolaemia: New treatment options

Netherlands Journal of Medicine

Volumn 71, Issue 5, 2013, Pages 227-233

  Ezzahti, M ^a   Sijbrands, E J G ^a   Mulder, M T ^a   van Lennep, J E Roeters ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

Apolipoprotein B; CETP; Familial hypercholesterolemia; MTP; PCSk9; Synthesis inhibitor; Treatment

Indexed keywords

ALIROCUMAB; AMG 145; ANACETRAPIB; APOLIPOPROTEIN B100; ATORVASTATIN; CHOLESTEROL ESTER TRANSFER PROTEIN; DALCETRAPIB; EZETIMIBE; HYPOCHOLESTEROLEMIC AGENT; LOMITAPIDE; LOW DENSITY LIPOPROTEIN RECEPTOR; MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN; MIPOMERSEN; PLACEBO; PROPROTEIN CONVERTASE 1; SERINE PROTEINASE; SMALL INTERFERING RNA; TORCETRAPIB; UNCLASSIFIED DRUG;

ANTISENSE THERAPY; BLOOD PRESSURE; DRUG DOSE COMPARISON; DRUG EFFICACY; DRUG SAFETY; FAMILIAL DISEASE; FLU LIKE SYNDROME; GAIN OF FUNCTION MUTATION; HUMAN; HYPERCHOLESTEROLEMIA; INJECTION SITE REACTION; LOSS OF FUNCTION MUTATION; MULTICENTER STUDY (TOPIC); PHASE 2 CLINICAL TRIAL (TOPIC); PHASE 3 CLINICAL TRIAL (TOPIC); RANDOMIZED CONTROLLED TRIAL (TOPIC); REVIEW; SIDE EFFECT;

ANTIBODIES, MONOCLONAL; ANTICHOLESTEREMIC AGENTS; BENZIMIDAZOLES; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; OLIGONUCLEOTIDES; OXAZOLIDINONES;

EID: 84879441350     PISSN: 03002977     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (56)

1. Soutar AK, Naoumova RP. Mechanisms of disease: genetic causes of familial hypercholesterolemia. Nat Clin Pract Cardiovasc Med. 2007;4:214-25.
2. Liyanagen KE, Burnett JR, Hooper AJ, van Bockxmeer FM. Familial hypercholesterolemia: epidemiology, Neolithic origins and modern geographic distribution. Crit Rev Clin Lab Sci. 2011;48:1-18.
3. Gaffney D, Reid JM, Cameron IM, et al. Independent mutations at codon 3500 of the apolipoprotein B gene are associated with hyperlipidemia. Arterioscler Thromb Vasc Biol. 1995;15:1025-9.
4. World Health Organization. Familial hypercholesterolemia. Report of a second WHO Consultation. WHO/HGN/FH/CONS/992 1999.Geneva: World Health Organization, 1999.
5. Wierzbicki AS, Humphries SE, Minhas R. Familial hypercholesterolaemia: summary of NICE guidance. BMJ. 2008;337:a1095.
6. Reiner Z, Catapano A, de Backer G et al. ESC/EAS guidelines for the management of dyslipidaemias. The Task Force on the management of dyslipidaemias of the European Society of Cardiology (ESC) and the European Atherosclerosis Society (EAS). Eur J Heart. 2011;32:1769-818.
7. Robinson JG, Goldberg AC. Treatment of adults with familial hypercholesterolemia and evidence for treatment: recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J Clin Lipidol. 2011;5:S18-S29.
8. Baigent C, Keech A, Kearney PM, et al. Efficacy and safety of cholesterol-lowering treatment: prospective meta-analysis of data from 90,056 participants in 14 randomized trials of statins. Lancet. 2005;366:1267-78.
9. Baigent C, Blackwell L, Emberson J, et al. Efficacy and safety of more intensive lowering of LDL cholesterol: a meta-analysis of data from 170,000 participants in 26 randomised trials. Lancet. 2010;376:1670-81.
10. Elis A, Zhou R, Stein EA. Effect of lipid-lowering treatment on natural history of heterozygous familial hypercholesterolemia in past three decades. Am J Cardiol. 2011;108:223-6.
11. Raal FJ, Pilcher GJ, Panz VR, et al. Reduction in mortality in subjects with homozygous familial hypercholesterolemia associated with advances in lipid-lowering therapy. Circulation. 2011;124:2202-7.
12. Neefjes LA, Ten Kate GJ, Rossi A, et al. CT coronary plaque burden in asymptomatic patients with familial hypercholesterolaemia. Heart. 2011;97:1151-7.
13. Neil A, Cooper J, Betteridge J, et al. Reductions in all-cause, cancer, and coronary mortality in statin-treated patients with heterozygous familial hypercholesterolaemia: a prospective registry study. Eur Heart J. 2008;29:2625-33.
14. Pijlman AH, Huijgen R, Verhagen SN, et al. Evaluation of cholesterol lowering treatment of patients with familial hypercholesterolemia: a large cross-sectional study in The Netherlands. Atherosclerosis. 2010;209:189-94.
15. Jones PH, Davidson MH, Stein EA, et al. Comparison of the efficacy and safety of rosuvastatin versus atorvastatin, simvastatin, pravastatin across doses. Am J Cardiol. 2003;92:152-60.
16. Brown WV, Bays H, Davidson M, Goldberg A. Drugs in development for management of lipoprotein disorders. J Clin Lipidol. 2011;5:66-75.
17. Qian YW, Schmidt RJ, Zhang Y, et al. Secreted PCSK9 downregulates low density lipoprotein receptor through receptor-mediated endocytosis. J Lipid Res. 2007; 48:1488-98.
18. Horton JD, Cohen JC, Hobbs HH. PCSK9: a convertase that coordinates LDL catabolism. J Lipid Res. 2009; 50:S172-S177.
19. Abifadel M, Varret M, Rabès JP. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nat Genet. 2003;34:154-6.
20. Cohen JC, Boerwinkle E, Mosley TH Jr, Hobbs HH. Sequence variations in PCSK9, low LDL, and protection against coronary heart disease. N Engl J Med. 2006;354:1264-72.
21. Hooper AJ, Marais AD, Tanyanyiwa DM, Burnett JR. The C679X mutation in PCSK9 is present and lowers blood cholesterol in a Southern African population. Atherosclerosis. 2007;193:445-8.
22. Cohen J, Pertsemlidis A, Kotowski IK, et al. Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9. Nat Genet. 2005;37:161-5.
23. Stein EA, Gipe D, Bergeron J, et al. Effect of a monoclonal antibody to PCSK9, REGN727/SAR236553, to reduce low-density lipoprotein cholesterol in patients with heterozygous familial hypercholesterolaemia on stable statin dose with or without ezetimibe therapy: a phase 2 randomised controlled trial. Lancet. 2012; 380:29-36.
24. Roth EM, McKenney JM, Hanotin C, et al. Atorvastatin with or without an antibody to PCSK9 in primary hypercholesterolemia. N Engl J Med. 2012;15:1891-900.
25. Sullivan D, Olsson AG, Scott R, et al. Effect of a monocolonal antibody to PCSK9 on low-density lipoprotein cholesterol levels in statin-intolerant patient: The GAUSS Randomized Trial. JAMA. 2012;5:1-10.
26. Raal F, Scott R, Somaratne R, et al. Low-density lipoprotein cholesterol-lowering effects of AMG145, a monoclonal antibody to proprotein convertase subtilisin/kexin type 9 serine protease in patients with heterozygous familial hypercholesterolemia: The Reduction of LDL-C With PCSK9 Inhibition in Heterozygous Familial Hypercholesterolemie Disorder (RUTHERFORD) trial. Circulation. 2012:126:2408-17.
27. Davidson NO, Shelness GS. APOLIPOPROTEIN B: mRNA editing, lipoprotein assembly, and presecretory degradation. Annu Rev Nutr. 2000;20:169-93.
28. Ito MK. ISIS 301012 gene therapy for hypercholesterolemia:sense, antisense, or nonsense? Ann Pharmacother. 2007;41:1669-78.
29. Raal FJ, Santos RD, Blom DJ, et al. Mipomersen, an apolipoprotein B synthesis inhibitor, for lowering of LDL cholesterol concentrations in patients with homozygous familial hypercholesterolaemia: a randomised, double-blind, placebo-controlled trial. Lancet. 2010;375:998-1006.
30. Stein E, Dufour R, Gagne C, et al. Apolipoprotein B synthesis inhibition with mipomersen in heterozygous familial hypercholesterolemia: results of a randomized, double-blind, placebo-controlled trial to assess efficacy and safety as add-on therapy in patients with coronary artery disease. Circulation. 2012;136:2283-92.
31. McGowan MP, Tardif JC, Ceska R, et al. Randomized, placebo controlled trial of mipomersen in patients with severe hypercholesterolemia receiving maximally tolerated lipid-lowering. Plos One. 2012:e49006.
32. Cromwell WC, Thomas GS, Boltje I, Chin W, Davidson M. Safety and efficacy of mipomersen administered as add-on therapy in patients with hypercholesterolemia and high cardiovascular risk [Abstract]. J Am Coll Cardiol. 2011;57(14s1):E504.
33. Visser ME, Wagener G, Baker BF, et al. Mipomersen, an apolipoprotein B synthesis inhibitor, lowers low-density lipoprotein cholesterol in high-risk statin-intolerant patients: a randomized, double-blind, placebo-controlled trial. Eur Heart J. 2012;33:1142-9.
34. Visser ME, Akdim F, Tribble DL, et al. Effect of apolipoprotein-B synthesis inhibition on liver triglyceride content in patients with familial hypercho- lesterolemia. J Lipid Res. 2010;51:1057-62.
35. Tall AR. Plasma cholesteryl ester transfer protein. J Lipid Res. 1993;34:1255-74.
36. Marcel YL, McPherson M, Hogue H, et al. Distribution and concentration of cholesteryl ester transfer protein in plasma of normolipemic subjects. J Clin Invest. 1990;85:10-7.
37. Paromov VM, Morton RE. Lipid transfer inhibitor protein defines the participation of high-density lipoprotein subfractions in lipid transfer reactions mediated by cholesterol ester transfer protein (CETP). J Biol Chem. 2003;278:40859-66.
38. Shinkai H. Cholesteryl ester transfer-protein modulator and inhibitors and their potential for the treatment of cardiovascular diseases. Vasc Health Risk Manag. 2012;8:323-31.
39. Barter PJ, Caulfield M, Eriksson M, et al. Effects of torcetrapib in patients at high risk for coronary events. N Engl J Med. 2007;357:2109-22.
40. Vergeer M, Bots ML, van Leuven SI, et al. Cholesteryl ester transfer protein inhibitor torcetrapib and off-target toxicity. A pooled analysis of the rating atherosclerotic disease change by imaging with a new CETP inhibitor (RADIANCE) trials. Circulation. 2008;118:2515-22.
41. Forrest MJ, Bloomfield D, Briscoe RJ, et al. Torcetrapib-induced blood pressure elevation is independent of cholesteryl ester transfer protein inhibition and is accompanied by an increase in circulating aldosterone levels. Br J Pharmacol. 2008;154:1465-73.
42. Hu X, Dietz JD, Xia C, et al. Torcetrapib induces aldosterone and cortisol production by an intracellular calcium-mediated mechanism independently of cholesteryl ester transfer protein inhibition. Endocrinology. 2009;150:2211-9.
43. De Grooth GJ, Kuivenhoven JA, Stalenhoef AF, et al. Efficacy and safety of a novel cholesteryl ester transfer protein inhibitor, JTT-705, in humans: a randomized phase II dose-response study. Circulation. 2002;105:2159-65.
44. Kuivenhoven JA, De Grooth GJ, Kawamura H, et al. Effectiveness of inhibition of cholesteryl ester transfer protein by JTT-705 in combination with pravastatin in type II dyslipidemia. Am J Cardiol. 2005;95:1085-8.
45. Schwartz GG, Olsson AG, Ballantyne CM, et al. Rationale and design of the dal-OUTCOMES trial: efficacy and safety of dalcetrapib in patients with recent acute coronary syndrome. Am Heart J. 2009;158:896-901.
46. Rhainds D, Arenault BJ, Brodeur MR, Tardif JC. An update of the clinical development of dalcetrapib (RO4607381), a cholesteryl ester transfer protein modulator that increases HDL cholesterol levels. Future Cardiol. 2012;8:513-3.
47. Cannon CP, Shah S, Dansky HM, et al. Safety of anacetrapib in patients with or at high risk for coronary heart disease. New Engl J Med. 2010;363:2406-2415.
48. Gutstein DE, Krishna R, Johns D, et al. Anacetrapib, a novel CETP inhibitor: pursuing a new approach to cardiovascular risk reduction. Clin Pharmacol Ther. 2012;91:109-22.
49. Wetterau JR, Lin MC, Jamil H. Microsomal triglyceride transfer protein. Biochim Biophys Acta. 1997;1345:136-50
50. Liao W, Hui TY, Young SG, Davis RA. Blocking microsomal triglyceride transfer protein interferes with apoB secretion without causing retention or stress in the ER. J Lipid Res. 2003;44:978-85.
51. Cuchel M, Bloedon LT, Szapary PO, et al. Inhibition of microsomal triglyceride transfer protein in familial hypercholesterolemia. N Engl J Med. 2007;356:148-56.
52. Samaha FF, McKenney J, Bloedon LT, et al. Inhibition of microsomal triglyceride transfer protein alone or with ezetimibe in patients with moderate hypercholesterolemia. Nat Clin Pract Cardiovasc Med. 2008;5:497-505.
53. Cuchel M, Meagher E, du Toit Theron B, et al. Efficacy and safety of a microsomal triglyceride transfer protein inhibitor in patients with homozygous familial hypercholesterolemia: a single-arm, open-label, phase 3 study. A phase III study of microsomal. Lancet. 2012:S0140-6736.
54. Nguyen D, Nickel M, Mizuguchi, et al. Interactions of apolipoprotein a-I with high-density lipoprotein particles. Biochemistry. 2013:52:1963-72.
55. Keyserling CH, Hunt TH, Klepp HM, et al. CER-001, a synthetic HDL-mimetic, safely mobilizes cholesterol in healthy dyslipidemic volunteers. Circulation. 2011:124:A15525.
56. Al-Allaf FA, Coutelle C, Waddington SN, David AL, Harbottle R, Themis M. LDLR-Gene therapy for familial hypercholesterolaemia: problems, progess, and perspectives. Int Arch Med. 2010;13:3-36.