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Drug Evaluations

Afamelanotide for the treatment of erythropoietic protoporphyria

Pages 341-349 | Published online: 11 Mar 2013

Bibliography

  • Anderson K, Sassa S, Bishop DF, Desnick RJ. Disorders of heme biosynthesis: X-linked sideroblastic anemia and the porphyrias. 2001;8:2991-3062
  • Went LN, Klasen EC. Genetic aspects of erythropoietic protoporphyria. Ann Hum Genet 1984;48:105-17
  • Whatley SD, Mason NG, Holme SA, Molecular epidemiology of erythropoietic protoporphyria in the U.K. Br J Dermatol 2010;162:642-6
  • Gouya L, Martin-Schmitt C, Robreau AM, Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria. Am J Hum Genet 2006;78:2-14
  • Aurizi C, Schneider-Yin X, Sorge F, Heterogeneity of mutations in the ferrochelatase gene in Italian patients with erythropoietic protoporphyria. Mol Genet Metab 2007;90:402-7
  • Holme SA, Whatley SD, Roberts AG, Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance. J Invest Dermatol 2009;129:599-605
  • Minder EI, Schneider-Yin X, Mamet R, A homoallelic FECH mutation in a patient with both erythropoietic protoporphyria and palmar keratoderma. J Eur Acad Dermatol Venereol 2010;24:1349-53
  • Whatley SD, Ducamp S, Gouya L, C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload. Am J Hum Genet 2008;83:408-14
  • Elder G, Harper P, Badminton M, The incidence of inherited porphyrias in Europe. J Inherit Metab Dis 2012
  • Nakano H, Nakano A, Toyomaki Y, Novel ferrochelatase mutations in Japanese patients with erythropoietic protoporphyria: high frequency of the splice site modulator IVS3-48C polymorphism in the Japanese population. J Invest Dermatol 2006;126:2717-19
  • Aplin C, Whatley SD, Thompson P, Late-onset erythropoietic porphyria caused by a chromosome 18q deletion in erythroid cells. J Invest Dermatol 2001;117:1647-9
  • Gray CH. Early labelled bile pigment production in the porphyrias. Int J Biochem 1978;9:905-9
  • Ibrahim GW, Watson CJ. Enterohepatic circulation and conversion of protoporphyrin to bile pigment in man. Proc Soc Exp Biol Med 1968;127:890-5
  • Timonen K, Kariniemi AL, Niemi KM, Vascular changes in erythropoietic protoporphyria: histopathologic and immunohistochemical study. J Am Acad Dermatol 2000;43:489-97
  • Lecha M, Puy H, Deybach JC. Erythropoietic protoporphyria. Orphanet J Rare Dis 2009;4:19
  • Schneider-Yin X, Minder EI. Erythropoietic protoporphyria and X-linked dominant protoporphyria. In: Ferreira GC, Kadish KM, Smith KM, Guillard R, editors, Handbook of Porphyrin Science. World Scientific Publishers, Singapore; 2013; in press
  • Stafford R, Farrar MD, Kift R, The impact of photosensitivity disorders on aspects of lifestyle. Br J Dermatol 2010;163:817-22
  • Jong CT, Finlay AY, Pearse AD, The quality of life of 790 patients with photodermatoses. Br J Dermatol 2008;159:192-7
  • Minder EI, Schneider-Yin X, Steurer J, Bachmann LM. A systematic review of treatment options for dermal photosensitivity in erythropoietic protoporphyria. Cell Mol Biol (Noisy -le-grand) 2009;55:84-97
  • Wahlin S, Floderus Y, Stal P, Harper P. Erythropoietic protoporphyria in Sweden: demographic, clinical, biochemical and genetic characteristics. J Intern Med 2011;269:278-88
  • Holme SA, Anstey AV, Finlay AY, Erythropoietic protoporphyria in the U.K.: clinical features and effect on quality of life. Br J Dermatol 2006;155:574-81
  • Tewari A, Marsden J, Naik H, Oral cholestyramine is not an effective treatment for uncomplicated erythropoietic protoporphyria. J Am Acad Dermatol 2012;67:1383-4
  • Gregus Z, Barth A, Fischer E, Comparison of the effects of cholestyramine and aluminium hydroxide on the biliary bile acid excretion in rats. An experimental model for the depletion of bile acids in bile. Acta Biol Med Ger 1980;39:705-9
  • Bonkovsky HL, Schned AR. Fatal liver failure in protoporphyria. Synergism between ethanol excess and the genetic defect. Gastroenterology 1986;90:191-201
  • Mathews-Roth MM, Pathak MA, Fitzpatrick TB, Beta-carotene as a photoprotective agent in erythropoietic protoporphyria. N Engl J Med 1970;282:1231-4
  • Collins P, Ferguson J. Narrow-band UVB (TL-01) phototherapy: an effective preventative treatment for the photodermatoses. Br J Dermatol 1995;132:956-63
  • Cui R, Widlund HR, Feige E, Central role of p53 in the suntan response and pathologic hyperpigmentation. Cell 2007;128:853-64
  • Sawyer TK, Sanfilippo PJ, Hruby VJ, 4-Norleucine, 7-D-phenylalanine-alpha-melanocyte-stimulating hormone: a highly potent alpha-melanotropin with ultralong biological activity. Proc Natl Acad Sci USA 1980;77:5754-8
  • Gantz I, Fong TM. The melanocortin system. Am J Physiol Endocrinol Metab 2003;284:E468-74
  • Cone RD. Studies on the physiological functions of the melanocortin system. Endocr Rev 2006;27:736-49
  • Haskell-Luevano C, Nikiforovich G, Sharma SD, Biological and conformational examination of stereochemical modifications using the template melanotropin peptide, Ac-Nle-c[Asp-His-Phe-Arg-Trp-Ala-Lys]-NH2, on human melanocortin receptors. J Med Chem 1997;40:1738-48
  • Schioth HB, Chhajlani V, Muceniece R, Major pharmacological distinction of the ACTH receptor from other melanocortin receptors. Life Sci 1996;59:797-801
  • Schioth HB, Muceniece R, Wikberg JE, Chhajlani V. Characterisation of melanocortin receptor subtypes by radioligand binding analysis. Eur J Pharmacol 1995;288:311-17
  • Schioth HB, Muceniece R, Wikberg JE, Szardenings M. Alternative translation initiation codon for the human melanocortin MC3 receptor does not affect the ligand binding. Eur J Pharmacol 1996;314:381-4
  • Chen W, Kelly MA, Opitz-Araya X, Exocrine gland dysfunction in MC5-R-deficient mice: evidence for coordinated regulation of exocrine gland function by melanocortin peptides. Cell 1997;91:789-98
  • Barsh GS. The genetics of pigmentation: from fancy genes to complex traits. Trends Genet 1996;12:299-305
  • Dorr RT, Dvorakova K, Brooks C, Increased eumelanin expression and tanning is induced by a superpotent melanotropin [Nle4-D-Phe7]-alpha-MSH in humans. Photochem Photobiol 2000;72:526-32
  • De Leeuw SM, Smit NP, Van VM, Melanin content of cultured human melanocytes and UV-induced cytotoxicity. J Photochem Photobiol B 2001;61:106-13
  • Ugwu SO, Blanchard J, Dorr RT, Skin pigmentation and pharmacokinetics of melanotan-I in humans. Biopharm Drug Dispos 1997;18:259-69
  • Barnetson RS, Ooi TK, Zhuang L, [Nle4-D-Phe7]-alpha-melanocyte-stimulating hormone significantly increased pigmentation and decreased UV damage in fair-skinned Caucasian volunteers. J Invest Dermatol 2006;126:1869-78
  • Kadekaro AL, Kavanagh R, Kanto H, Alpha-melanocortin and endothelin-1 activate antiapoptotic pathways and reduce DNA damage in human melanocytes. Cancer Res 2005;65:4292-9
  • Bohm M, Wolff I, Scholzen TE, Alpha-Melanocyte-stimulating hormone protects from ultraviolet radiation-induced apoptosis and DNA damage. J Biol Chem 2005;280:5795-802
  • Abdel-Malek ZA, Kadekaro AL, Kavanagh RJ, Melanoma prevention strategy based on using tetrapeptide alpha-MSH analogs that protect human melanocytes from UV-induced DNA damage and cytotoxicity. FASEB J 2006;20:1561-3
  • Song X, Mosby N, Yang J, Alpha-MSH activates immediate defense responses to UV-induced oxidative stress in human melanocytes. Pigment Cell Melanoma Res 2009;22:809-18
  • Rees JL. The genetics of sun sensitivity in humans. Am J Hum Genet 2004;75:739-51
  • Kadekaro AL, Leachman S, Kavanagh RJ, Melanocortin 1 receptor genotype: an important determinant of the damage response of melanocytes to ultraviolet radiation. FASEB J 2010;24:3850-60
  • Fitzgerald LM, Fryer JL, Dwyer T, Humphrey SM. Effect of MELANOTAN, [Nle(4), D-Phe(7)]-alpha-MSH, on melanin synthesis in humans with MC1R variant alleles. Peptides 2006;27:388-94
  • Bhardwaj R, Hadley ME, Dorr RT, Pharmacologic response of a controlled-release PLGA formulation for the alpha-melanocyte stimulating hormone analog, Melanotan-I. Pharm Res 2000;17:593-9
  • Bhardwaj R, Blanchard J. Controlled-release delivery system for the alpha-MSH analog melanotan-I using poloxamer 407. J Pharm Sci 1996;85:915-19
  • Abdel-Malek ZA, Ruwe A, Kavanagh-Starner R, Alpha-MSH tripeptide analogs activate the melanocortin 1 receptor and reduce UV-induced DNA damage in human melanocytes. Pigment Cell Melanoma Res 2009;22:635-44
  • Hadley ME. Discovery that a melanocortin regulates sexual functions in male and female humans. Peptides 2005;26:1687-9
  • Wessells H, Levine N, Hadley ME, Melanocortin receptor agonists, penile erection, and sexual motivation: human studies with Melanotan II. Int J Impot Res 2000;12(Suppl 4):S74-9
  • Levine N, Sheftel SN, Eytan T, Induction of skin tanning by subcutaneous administration of a potent synthetic melanotropin. JAMA 1991;266:2730-6
  • Harms J, Lautenschlager S, Minder CE, Minder EI. An alpha-melanocyte-stimulating hormone analogue in erythropoietic protoporphyria. N Engl J Med 2009;360:306-7
  • Harms JH, Lautenschlager S, Minder CE, Minder EI. Mitigating photosensitivity of erythropoietic protoporphyria patients by an agonistic analog of alpha-melanocyte stimulating hormone. Photochem Photobiol 2009;85:1434-9
  • Minder EI, Harms J, Lautenschlager S, A double-blind, randomized, controlled phase III trial of afamelanotide (an alpha-MSH analogue) in erythropoietic protoporphyria (EPP) - preliminary data on a Swiss cohort of patients and a model to determine efficacy in EPP. Berzelius symposium 81- Porphyrins and Porphyrias; 14 – 18 June 2009; Stockholm
  • Spichty R, Balimann M, Barman J, Minder EI. A bioassay for detection of neutralizing antibodies against the alpha-melanocyte stimulating hormone analogue afamelanotide in patients with erythropoietic protoporphyria. J Pharm Biomed Anal 2012; in press
  • del Marmol V, Luger T, Neumann NJ, Ortonne JP. Public health issues arising from sale of illegal and potentially unsafe ‘tanning chemicals'. Pigment Cell Melanoma Res 2009;22:648
  • Langan EA, Ramlogan D, Jamieson LA, Rhodes LE. Change in moles linked to use of unlicensed “sun tan jab”. BMJ 2009;338:b277
  • von Bartenwerffer W, Siebenhaar G, Hunzelmann N. Pseudoleucoderma after injections of afamelanotide in a patient with atopic dermatitis. Acta Derm Venereol 2011;91:578-9
  • Bennett DC, Medrano EE. Molecular regulation of melanocyte senescence. Pigment Cell Res 2002;15:242-50
  • Eves P, Haycock J, Layton C, Anti-inflammatory and anti-invasive effects of alpha-melanocyte-stimulating hormone in human melanoma cells. Br J Cancer 2003;89:2004-15
  • Minder EI. Afamelanotide, an agonistic analog of alpha-melanocyte-stimulating hormone, in dermal phototoxicity of erythropoietic protoporphyria. Expert Opin Investig Drugs 2010;19:1591-602
  • Mathews-Roth MM. Treatment of erythropoietic protoporphyria with beta-carotene. Photodermatol 1984;1:318-21
  • Omenn GS, Goodman GE, Thornquist MD, Effects of a combination of beta carotene and vitamin A on lung cancer and cardiovascular disease. N Engl J Med 1996;334:1150-5
  • The Alpha-Tocopherol Beta Carotene Cancer Prevention Study Group. The effect of vitamin E and beta carotene on the incidence of lung cancer and other cancers in male smokers. N Engl J Med 1994;330:1029-35
  • Minder EI, Schneider-Yin X, Minder CE. Patient-recorded outcome to assess therapeutic efficacy in protoporphyria-induced dermal phototoxicity: a proposal. Health Qual Life Outcomes 2010;8:60
  • Grimes PE, Hamzavi I, Lebwohl J, The efficacy of afamelanotide and narrowband UV-B phototherapy for repigmentation of vitiligo. Arch Dermatol 2012;149:1-6

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