LOWER, a registry of lomitapide-treated patients with homozygous familial hypercholesterolemia: Rationale and design

Journal of Clinical Lipidology

Volumn 10, Issue 2, 2016, Pages 273-282

  Blom, Dirk J ^a   Fayad, Zahi A ^b   Kastelein, John J P ^c   Larrey, Dominique ^d   Makris, Lukas ^e   Schwamlein, Charles ^f   Bloeden, Leanne ^g   Underberg, James ^h  

^a UNIVERSITY OF CAPE TOWN   (South Africa)

^b MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^c ACADEMIC MEDICAL CENTER   (Netherlands)

^d UNIV MONTPELLIER   (France)

^e Stathmi   (United States)

^f Pharmacovigilance   (United States)

^g Aegerion Pharmaceuticals   (United States)

^h NEW YORK UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Cardiovascular imaging; Effectiveness; Homozygous familial hypercholesterolemia; Lomitapide; Pregnancy; Registry; Safety

Indexed keywords

LOMITAPIDE; LOW DENSITY LIPOPROTEIN CHOLESTEROL; BENZIMIDAZOLE DERIVATIVE; HYPOCHOLESTEROLEMIC AGENT;

ARTICLE; BLOOD CLOTTING DISORDER; CARDIOVASCULAR DISEASE; CLINICAL PRACTICE; DRUG EFFICACY; DRUG SAFETY; FAMILIAL HYPERCHOLESTEROLEMIA; FOLLOW UP; GASTROINTESTINAL DISEASE; GASTROINTESTINAL TUMOR; HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA; HUMAN; LIPID ANALYSIS; LIPID BLOOD LEVEL; LIVER DISEASE; MEDICAL HISTORY; OBSERVATIONAL STUDY; PRACTICE GUIDELINE; PREGNANCY; PRIORITY JOURNAL; PROSPECTIVE STUDY; ADULT; BLOOD; FEMALE; GENETICS; HOMOZYGOTE; HYPERLIPOPROTEINEMIA TYPE II; PATIENT SELECTION; PLAQUE, ATHEROSCLEROTIC; REGISTER; SAFETY; TIME FACTOR;

ADULT; ANTICHOLESTEREMIC AGENTS; BENZIMIDAZOLES; FEMALE; HOMOZYGOTE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; PATIENT SELECTION; PLAQUE, ATHEROSCLEROTIC; PREGNANCY; REGISTRIES; SAFETY; TIME FACTORS;

EID: 84952700857     PISSN: 19332874     EISSN: 18764789     Source Type: Journal    
DOI: 10.1016/j.jacl.2015.11.011     Document Type: Article

References (51)

1. J.G. Robinson Management of familial hypercholesterolemia: a review of the recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia J Manag Care Pharm 19 2 2013 139 149
2. B.G. Nordestgaard, M.J. Chapman, S.E. Humphries, and et al. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society Eur Heart J 34 45 2013 3478 3490a
3. B. Sjouke, D.M. Kusters, I. Kindt, and et al. Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype-phenotype relationship, and clinical outcome Eur Heart J 36 9 2015 560 565
4. M. Cuchel, E. Bruckert, H.N. Ginsberg, and et al. Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society Eur Heart J 35 32 2014 2146 2157
5. F.J. Raal, and R.D. Santos Homozygous familial hypercholesterolemia: current perspectives on diagnosis and treatment Atherosclerosis 223 2 2012 262 268
6. A.C. Goldberg, P.N. Hopkins, P.P. Toth, and et al. Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia J Clin Lipidol 5 3 2011 133 140
7. P.E. Ziajka Management of patients with homozygous familial hypercholesterolemia Am J Manag Care 19 13 Suppl 2013:s
8. M.C. Izar, V.A. Machado, and F.A. Fonseca Genetic screening for homozygous and heterozygous familial hypercholesterolemia Appl Clin Genet 3 2010 147 157
9. S. Bertolini, L. Pisciotta, C. Rabacchi, and et al. Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy Atherosclerosis 227 2 2013 342 348
10. A.D. Sniderman, S. Tsimikas, and S. Fazio The severe hypercholesterolemia phenotype: clinical diagnosis, management, and emerging therapies J Am Coll Cardiol 63 19 2014 1935 1947
11. R. Do, N.O. Stitziel, H.H. Won, and et al. Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction Nature 518 7537 2015 102 106
12. F.J. Raal, R.D. Santos, D.J. Blom, and 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 375 9719 2010 998 1006
13. M. Cuchel, E.A. Meagher, H. du Toit Theron, and et al. Efficacy and safety of a microsomal triglyceride transfer protein inhibitor in patients with homozygous familial hypercholesterolaemia: a single-arm, open-label, phase 3 study Lancet 381 9860 2013 40 46
14. A.D. Marais Familial hypercholesterolaemia Clin Biochem Rev 25 1 2004 49 68
15. C.R. Sirtori, C. Pavanello, and S. Bertolini Microsomal transfer protein (MTP) inhibition - A novel approach to the treatment of homozygous hypercholesterolemia Ann Med 46 7 2014 464 474
16. B. Sjouke, G.K. Hovingh, J.J. Kastelein, and C. Stefanutti Homozygous autosomal dominant hypercholesterolaemia: prevalence, diagnosis, and current and future treatment perspectives Curr Opin Lipidol 26 3 2015 200 209
17. A.C. Fahed, R.H. Habib, G.M. Nemer, and et al. Low-density lipoprotein levels and not mutation status predict intima-media thickness in familial hypercholesterolemia Ann Vasc Surg 28 2 2014 421 426
18. H.H. Schmidt, S. Hill, E.V. Makariou, I.M. Feuerstein, K.A. Dugi, and J.M. Hoeg Relation of cholesterol-year score to severity of calcific atherosclerosis and tissue deposition in homozygous familial hypercholesterolemia Am J Cardiol 77 8 1996 575 580
19. J. Stock New EAS Consensus Statement on FH: improving the care of FH patients Atherosclerosis 231 1 2013 69 71
20. National Institute for Health and Clinical Excellence. Familial hypercholesterolaemia: Identification and management of familial hypercholesterolaemia. 2008. Available at: http://www.nice.org.uk/guidance/cg71. (accessed 23 December 2015).
21. International Atherosclerosis Society. IAS Position Paper: Global Recommendations for the Management of Dyslipidemia 2013 [cited 2014 August]. Available at: http://www.athero.org/IASPositionPaper.asp. Accessed December 23, 2015.
22. A.L. Catapano, Z. Reiner, G. De Backer, and et al. ESC/EAS Guidelines for the management of dyslipidaemias The Task Force for the management of dyslipidaemias of the European Society of Cardiology (ESC) and the European Atherosclerosis Society (EAS) Atherosclerosis 217 1 2011 3 46
23. N.J. Stone, J.G. Robinson, A.H. Lichtenstein, and et al. 2013 ACC/AHA Guideline on the Treatment of Blood Cholesterol to Reduce Atherosclerotic Cardiovascular Risk in Adults: A Report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines J Am Coll Cardiol 63 25 Pt B 2014 2889 2934
24. T.J. Anderson, J. Gregoire, R.A. Hegele, and et al. 2012 update of the Canadian Cardiovascular Society guidelines for the diagnosis and treatment of dyslipidemia for the prevention of cardiovascular disease in the adult Can J Cardiol 29 2 2013 151 167
25. National Lipid Association. (Log in required) [cited 2014 August]. Available at: https://www.lipid.org/patient-centered. Accessed December 23, 2015.
26. G.F. Watts, S. Gidding, A.S. Wierzbicki, and et al. Integrated guidance on the care of familial hypercholesterolemia from the International FH Foundation J Clin Lipidol 8 2 2014 148 172
27. National Institute for Health and Care Excellence. Identification and management of familial hypercholesterolaemia. Reviewed August 2011 [cited 2014 September]. Available at: http://www.nice.org.uk/guidance/cg71. Accessed December 23, 2015.
28. D.J. Maron, S. Fazio, and M.F. Linton Current perspectives on statins Circulation 101 2 2000 207 213
29. G.R. Thompson, M. Barbir, D. Davies, and et al. Efficacy criteria and cholesterol targets for LDL apheresis Atherosclerosis 208 2 2010 317 321
30. H. Mabuchi, J. Koizumi, M. Shimizu, and et al. Long-term efficacy of low-density lipoprotein apheresis on coronary heart disease in familial hypercholesterolemia. Hokuriku-FH-LDL-Apheresis Study Group Am J Cardiol 82 12 1998 1489 1495
31. A. Graesdal, M.P. Bogsrud, K.B. Holven, and et al. Apheresis in homozygous familial hypercholesterolemia: the results of a follow-up of all Norwegian patients with homozygous familial hypercholesterolemia J Clin Lipidol 6 4 2012 331 339
32. M.M. Page, E.I. Ekinci, R.M. Jones, P.W. Angus, P.J. Gow, and R.C. O'Brien Liver transplantation for the treatment of homozygous familial hypercholesterolaemia in an era of emerging lipid-lowering therapies Intern Med J 44 6 2014 601 604
33. M. Farnier, and E. Bruckert Severe familial hypercholesterolaemia: current and future management Arch Cardiovasc Dis 105 12 2012 656 665
34. A. Vuorio, M.J. Tikkanen, and P.T. Kovanen Inhibition of hepatic microsomal triglyceride transfer protein - a novel therapeutic option for treatment of homozygous familial hypercholesterolemia Vasc Health Risk Manag 10 2014 263 270
35. F.J. Raal, N. Honarpour, D.J. Blom, and et al. Inhibition of PCSK9 with evolocumab in homozygous familial hypercholesterolaemia (TESLA Part B): a randomised, double-blind, placebo-controlled trial Lancet 385 9965 2015 341 350
36. D.J. Rader, and J.J. Kastelein Lomitapide and mipomersen: two first-in-class drugs for reducing low-density lipoprotein cholesterol in patients with homozygous familial hypercholesterolemia Circulation 129 9 2014 1022 1032
37. EMA. Lojuxta (lomitapide) 2014 [cited 2014 August]. Available at: http://www.ema.europa.eu/ema/index.jsp?curl=pages/medicines/human/medicines/002578/human-med-001668.jsp&mid=WC0b01ac058001d124. Accessed December 23, 2015.
38. FDA. Lomitapide orphan drug approval 2007 [cited 2014 August]. Available at: http://www.accessdata.fda.gov/scripts/opdlisting/oopd/OOPD-Results-2.cfm?Index-Number=245907. Accessed December 23, 2015.
39. FDA. FDA approves new orphan drug for rare cholesterol disorder 2012 [cited 2014 August]. News release. Available at: http://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm333285.htm. Accessed December 23, 2015.
40. Aegerion Pharmaceuticals. Juxtapid prescribing information. 2014 [updated August 2014; cited 2015 March]. Available at: http://www.aegerion.com/Collateral/Documents/English-US/Prescribing%20Information%20August%202014.pdf. Accessed December 23, 2015.
41. R. Corti, Z.A. Fayad, V. Fuster, and et al. Effects of lipid-lowering by simvastatin on human atherosclerotic lesions: a longitudinal study by high-resolution, noninvasive magnetic resonance imaging Circulation 104 3 2001 249 252
42. K. Hayashi, V. Mani, A. Nemade, and et al. Variations in atherosclerosis and remodeling patterns in aorta and carotids J Cardiovasc Magn Reson 12 2010 10
43. R.Q. Migrino, M. Bowers, L. Harmann, R. Prost, and J.F. LaDisa Jr. Carotid plaque regression following 6-month statin therapy assessed by 3T cardiovascular magnetic resonance: comparison with ultrasound intima media thickness J Cardiovasc Magn Reson 13 2011 37
44. R. Corti, V. Fuster, J.J. Badimon, R. Hutter, and Z.A. Fayad New understanding of atherosclerosis (clinically and experimentally) with evolving MRI technology in vivo Ann N Y Acad Sci 947 2001 181 195 discussion 95-8
45. Y. Zhang, E. Guallar, Y. Qiao, and B.A. Wasserman Is carotid intima-media thickness as predictive as other noninvasive techniques for the detection of coronary artery disease? Arterioscler Thromb Vasc Biol 34 7 2014 1341 1345
46. Z.A. Fayad, V. Mani, M. Woodward, and et al. Safety and efficacy of dalcetrapib on atherosclerotic disease using novel non-invasive multimodality imaging (dal-PLAQUE): a randomised clinical trial Lancet 378 9802 2011 1547 1559
47. A. Neil, J. Cooper, J. Betteridge, and 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 29 21 2008 2625 2633
48. E.C. O'Brien, M.T. Roe, E.S. Fraulo, and et al. Rationale and design of the familial hypercholesterolemia foundation CAscade SCreening for Awareness and DEtection of Familial Hypercholesterolemia registry Am Heart J 167 3 2014 342 349.e17
49. E. Hammond, G.F. Watts, Y. Rubinstein, and et al. Role of international registries in enhancing the care of familial hypercholesterolaemia Int J Evid Based Healthc 11 2 2013 134 139
50. A. Al-Sarraf, M. Allard, M. Martinka, and J. Frohlich Regional and national familial hypercholesterolemia registries: present international application, importance, and needs for Canada Can J Cardiol 29 1 2013 6 9
51. Taiwan Society of Lipids & Atherosclerosis. Taiwan Familial Hypercholesterolemia Registry 2014 [cited 2014 September]. Available at: http://www.tas.org.tw/?FID=60&CID=254. Accessed December 23, 2015.