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Drug Profile

Afamelanotide for prevention of phototoxicity in erythropoietic protoporphyria

ORCID Icon, ORCID Icon & ORCID Icon
Pages 151-160 | Received 30 Nov 2020, Accepted 19 Jan 2021, Published online: 18 Mar 2021

References

  • Holme SA, Anstey AV, Finlay AY, et al. Erythropoietic protoporphyria in the UK: clinical features and effect on quality of life. Br J Dermatol. 2006;155(3):574–581.
  • Wahlin S, Floderus Y, Stål P, et al. Erythropoietic protoporphyria in Sweden: demographic, clinical, biochemical and genetic characteristics. J Intern Med. 2011;269(3):278–288.
  • Naik H, Shenbagam S, Go AM, et al. Psychosocial issues in erythropoietic protoporphyria-the perspective of parents, children, and young adults: a qualitative study. Mol Genet Metab. 2019;128(3):314–319.
  • Lecha M, Puy H, Deybach JC. Erythropoietic protoporphyria. Orphanet J Rare Dis. 2009;4(1):19.
  • Todd DJ. Erythropoietic protoporphyria. Br J Dermatol. 1994;131(6):751–766.
  • Lecha M. Erythropoietic protoporphyria. Photodermatol Photoimmunol Photomed. 2003;19(3):142–146.
  • Balwani M, Naik H, Anderson KE, et al. Clinical, biochemical, and genetic characterization of North American patients with erythropoietic protoporphyria and X-linked protoporphyria. JAMA Dermatol. 2017;153(8):789–796.
  • Casanova-Gonzalez MJ. Liver disease and erythropoietic protoporphyria: a concise review. World J Gastroenterol. 2010;16(36):4526–4531.
  • Lerche CM, Heerfordt IM, Heydenreich J, et al. Alternatives to outdoor daylight illumination for photodynamic therapy—use of greenhouses and artificial light sources. Int J Mol Sci. 2016;17(3):309.
  • Whatley SD, Ducamp S, Gouya L, et al. 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(3):408–414.
  • Yien YY, Ducamp S, van der Vorm LN, et al. Mutation in human CLPX elevates levels of delta-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria. Proc Natl Acad Sci U S A. 2017;114(38):E8045–E8052.
  • Porter RM, Anstey A. Evidence and conjecture about mechanisms of cutaneous disease in photodermatology. Exp Dermatol. 2014;23(8):543–546.
  • Granata F, Duca L, Graziadei G, et al. Inflammatory involvement into phototoxic reaction in erythropoietic protoporphyria (EPP) patients. Immunol Res. 2019;67(4):382–389.
  • Went LN, Klasen EC. Genetic aspects of erythropoietic protoporphyria. Ann Hum Genet. 1984;48(2):105–117.
  • Mizawa M, Makino T, Nakano H, et al. Erythropoietic protoporphyria in a Japanese population. Acta Derm Venereol. 2019;99(7–8):634–639.
  • EMA. Summary of the risk management plan (RMP) for Scenesse (afamelanotide). European Medicine Agencies. 2014. [cited 2020 Jun 12]. Available from: https://www.ema.europa.eu/en/documents/rmp-summary/scenesse-epar-risk-management-plan-summary_en.pdf
  • de Bataille S, Dutartre H, Puy H, et al. Influence of meteorological data on sun tolerance in patients with erythropoietic protoporphyria in France. Br J Dermatol. 2016;175(4):768–775.
  • Corbett MF, Herxheimer A, Magnus IA, et al. The long term treatment with beta-carotene in erythropoietic protoporphyria: a controlled trial. Br J Dermatol. 1977;97(6):655–662.
  • Osterwalder U, Herzog B. The long way towards the ideal sunscreen—where we stand and what still needs to be done. Photochem Photobiol Sci. 2010;9(4):470–481.
  • Di Pierro E, Nutrients GF. Porphyria: an Intriguing Crosstalk. Int J Mol Sci. 2020;21(10):3462.
  • Collins P, Ferguson J. Narrow‐band UVB (TL‐01) phototherapy: an effective preventative treatment for the photodermatoses. Br J Dermatol. 1995;132(6):956–963.
  • Warren LJ, George S. Erythropoietic protoporphyria treated with narrow‐band (TL‐01) UVB phototherapy. Australas J Dermatol. 1998;39(3):179–182.
  • Slaper H, Schothorst AA. Van der Leun JC. Risk evaluation of UVB therapy for psoriasis: comparison of calculated risk for UVB therapy and observed risk in PUVA-treated patients. Photo-dermatology. 1986;3(5):271–283.
  • Minder EI, Schneider-Yin X, Steurer J, et al. A systematic review of treatment options for dermal photosensitivity in erythropoietic protoporphyria. Database of abstracts of reviews of effects (dare): quality-assessed reviews [internet]. (Centre for Reviews and Dissemination (UK), 2009)
  • Bijlmer-Iest JC, Baart de la Faille H, Van Asbeck BS, et al. Protoporphyrin photosensitivity cannot be attenuated by oral N-acetylcysteine. Photodermatol. photoimmunol photomed. 1992;9: 245–245.
  • Norris PG, Baker CS, Roberts JE, et al. Treatment of erythropoietic protoporphyria with N-acetylcysteine. Arch Dermatol. 1995;131(3):354–355.
  • Mathews‐Roth MM, Rosner B. Long‐term treatment of erythropoietic protoporphyria with cysteine. Photodermatol Photoimmunol Photomed. 2002;18(6):307–309.
  • Mathews-Roth MM, Rosner B, Benfell K, et al. A double-blind study of cysteine photoprotection in erythropoietic protoporphyria. Photodermatol Photoimmunol Photomed. 1994;10(6):244–248.
  • Boffa MJ, Ead RD, Reed P, et al. A double‐blind, placebo‐controlled, crossover trial of oral vitamin C in erythropoietic protoporphyria. Photodermatol Photoimmunol Photomed. 1996;12(1):27–30.
  • Fusaro RM, Johnson JA. Protection against long ultraviolet and/or visible light with topical dihydroxyacetone. Dermatology. 1975;150(6):346–351.
  • Fusaro RM, Rice EG. The Maillard reaction for sunlight protection. Ann N Y Acad Sci. 2005;1043(1):174–183.
  • Rice EG. Dihydroxyacetone naphthoquinone protection against photosensitivity. Dermatology. 1976;153(1):38–43.
  • Anstey AV, Hift RJ. Liver disease in erythropoietic protoporphyria: insights and implications for management. Gut. 2007;56(7):1009–1018.
  • Dobozy A, Csato M, Siklosi C, et al. Transfusion therapy for erythropoietic protoporphyria. Br J Dermatol. 1983;109(5):571–576.
  • Sarkany RPE, Norris PG. Hepatic complications of erythropoietic protoporphyria. Br J Dermatol. 1994;130(2):258–259.
  • Van Wijk HJ, Van Hattum J, De La Faille HB, et al. Blood exchange and transfusion therapy for acute cholestasis in protoporphyria. Dig Dis Sci. 1988;33(12):1621–1625.
  • Andrews NC. Disorders of iron metabolism. N Engl J Med. 1999;341(26):1986–1995.
  • Wahlin S, Stal P, Adam R, et al. Liver transplantation for erythropoietic protoporphyria in Europe. Liver Transpl. 2011;17(9):1021–1026.
  • Rand EB, Bunin N, Cochran W, et al. Sequential liver and bone marrow transplantation for treatment of erythropoietic protoporphyria. Pediatrics. 2006;118(6):e1896–e1899.
  • Wahlin S, Harper P. The role for BMT in erythropoietic protoporphyria. Bone Marrow Transplant. 2010;45(2):393.
  • Herbert A, Corbin D, Williams A, et al. Erythropoietic protoporphyria: unusual skin and neurological problems after liver transplantation. Gastroenterology. 1991;100(6):1753–1757.
  • McGuire BM, Bonkovsky HL, Jr RL C, et al. Liver transplantation for erythropoietic protoporphyria liver disease. Liver Transpl. 2005;11(12):1590–1596.
  • Wahlin S, Srikanthan N, Hamre B, et al. Protection from phototoxic injury during surgery and endoscopy in erythropoietic protoporphyria. Liver Transpl. 2008;14(9):1340–1346.
  • Lynch PJ, Miedler LJ. Erythropoietic protoporphyria: report of a family and a clinical review. Arch Dermatol. 1965;92(4):351–356.
  • Mitsubishi Tanabe Pharma Development America I. Study to evaluate efficacy, safety, and Tolerability of MT-7117 in subjects with erythropoetic protoporphyria or X-linked protoporphyria. ClinicalTrials.gov, 2020 [cited 2020 Jun 12]. Available from: https://clinicaltrials.gov/ct2/show/NCT04402489
  • Balwani M, Bonkovsky HL, Belongie KJ, et al. Erythropoietic Protoporphyria: phase 2 Clinical Trial Results Evaluating the Safety and Effectiveness of Dersimelagon (MT-7117), an Oral MC1R Agonist. Blood. 2020;136(Supplement 1): 51–51. DOI: 10.1182/blood-2020-142467.
  • Tsatmali M, Ancans J, Thody AJ. Melanocyte function and its control by melanocortin peptides. J Histochem Cytochem. 2002;50(2):125–133.
  • Catania A, Airaghi L, Colombo G, et al. α-melanocyte-stimulating hormone in normal human physiology and disease states. Trends Endocrinol Metab. 2000;11(8):304–308.
  • Bastiaens MT, Ter Huurne JAC, Kielich C, et al., Melanocortin-1 receptor gene variants determine the risk of nonmelanoma skin cancer independently of fair skin and red hair. Am J Hum Genet. 68(4): 884–894. 2001. .
  • Dorr RT, Dvorakova K, Brooks C, et al. Increased eumelanin expression and tanning is induced by a superpotent melanotropin [Nle4‐d‐Phe7]‐α‐MSH in humans. Photochem Photobiol. 2000;72(4):526–532.
  • Barsh G, Attardi LD. A healthy tan? N Engl J Med. 2007;356(21):2208–2210.
  • Beaumont KA, Shekar SN, Cook AL, et al. Red hair is the null phenotype of MC1R. Hum Mutat. 2008;29(8):E88–E94.
  • Minder EI, Afamelanotide S-YX. (CUV1647) in dermal phototoxicity of erythropoietic protoporphyria. Expert Rev Clin Pharmacol. 2015;8(1):43–53.
  • Sawyer TK, Sanfilippo PJ, Hruby VJ, et al. 4-Norleucine, 7-D-phenylalanine-alpha-melanocyte-stimulating hormone: a highly potent alpha-melanotropin with ultralong biological activity. Proc Nat Acad Sci. 1980;77(10):5754–5758.
  • Hunt G, Todd C, Cresswell JE, et al. Alpha-melanocyte stimulating hormone and its analogue Nle4DPhe7 alpha-MSH affect morphology, tyrosinase activity and melanogenesis in cultured human melanocytes. J Cell Sci. 1994;107(1):205–211.
  • Pathak MA Photoprotective role of melanin (eumelanin) in human skin. Light in biology and medicine. Springer, 1988 337–344.
  • Hadley ME. Discovery that a melanocortin regulates sexual functions in male and female humans. Peptides. 2005;26(10):1687–1689.
  • Langan EA, Nie Z, Rhodes LE. Melanotropic peptides: more than just ‘Barbie drugs’ and ‘sun-tan jabs’? Br J Dermatol. 2010;163(3):451–455.
  • Evans-Brown M, Dawson RT, Chandler M, et al. Use of melanotan I and II in the general population. BMJ. 2009;338:b566.
  • Dorr RT, Dawson BV, Al-Obeidi F, et al. Toxicologic studies of a superpotent α-melanotropin,[Nle 4, D-Phe 7] α-MSH. Invest New Drugs. 1988;6(4):251–258.
  • Ugwu SO, Blanchard J, Dorr RT, et al. Skin pigmentation and pharmacokinetics of melanotan‐I in humans. Biopharm Drug Dispos. 1997;18(3):259–269.
  • Levine N, Sheftel SN, Eytan T, et al. Induction of skin tanning by subcutaneous administration of a potent synthetic melanotropin. Jama. 1991;266(19):2730–2736.
  • Levine N, Dorr RT, Ertl GA, et al. Effects of a potent synthetic melanotropin, Nle4-D-Phe7-α-MSH (Melanotan-I) on tanning: a dose-ranging study. J Dermatological Treat. 1999;10(2):127–132.
  • Barnetson RS, Ooi TKT, Zhuang L, et al., [Nle4-D-Phe7]-α-melanocyte-stimulating hormone significantly increased pigmentation and decreased UV damage in fair-skinned caucasian volunteers. J Invest Dermatol. 126(8): 1869–1878. 2006. .
  • EMA. Scenesse EPAR assessment report. 2014. European medicines agency. [cited 2020 Jun 11]. Available from: https://www.ema.europa.eu/en/documents/assessment-report/scenesse-epar-public-assessment-report_en.pdf.
  • AMdL C, Hadley ME, Sawyer TK, et al. Enzymological studies of melanotropins. Comp Biochem Physiol Part B. 1984;78(3):519–524.
  • Wensink D Abstract presentation: time-to-prodrome as an endpoint for assessing erythropoietic protoporphyria treatments. At: International Congress on Porphyrins and Porphyrias (ICPP 2019). Milan, Italy, 2019.
  • Harms J, Lautenschlager S, Minder CE, et al. An alpha-melanocyte-stimulating hormone analogue in erythropoietic protoporphyria. N Engl J Med. 2009;360(3):306–307.
  • Clinuvel Pharmaceuticals Limited. Company announcement: clinuvel demonstrates positive treatment effect of afamelanotide in US Phase II study. 2011. [cited 2020 Jun 20]. Available from: https://www.clinuvel.com/wp-content/uploads/2010/04/CUV_Clinuvel_announces_positive_results_of_Phase_II_US_study.pdf
  • Langendonk JG, Balwani M, Anderson KE, et al., Afamelanotide for erythropoietic protoporphyria. N Engl J Med. 373(1): 48–59. 2015. .
  • Biolcati G, Marchesini E, Sorge F, et al. Long-term observational study of afamelanotide in 115 patients with erythropoietic protoporphyria. Br J Dermatol. 2015;172(6):1601–1612.
  • Wensink D, Wagenmakers MAEM, Barman-Aksözen J, et al., association of afamelanotide with improved outcomes in patients with erythropoietic protoporphyria in clinical practice. JAMA Dermatol. 156(5): 570–575. 2020. .
  • Barman-Aksözen J, Nydegger M, Schneider-Yin X, et al. Increased phototoxic burn tolerance time and quality of life in patients with erythropoietic protoporphyria treated with afamelanotide–a three years observational study. Orphanet J Rare Dis. 2020;15(1):1–8.
  • Lengweiler S, Kreim S, Barman-Aksözen J, et al. Evaluation of the immunogenicity of the synthetic α-melanocyte-stimulating hormone (α-MSH) analogue afamelanotide ([Nle4-D-Phe7]-α-MSH, Scenesse®) in erythropoietic protoporphyria patients by ELISA detecting both anti-afamelanotide and anti-α-MSH antibodies. Skin Pharmacol Physiol. 2015;28(2):103–113.
  • Ong S, Bowling J. Melanotan‐associated melanoma in situ. Australas J Dermatol. 2012;53(4):301–302.
  • Hjuler KF, Lorentzen HF. Melanoma associated with the use of melanotan-II. Dermatology. 2013;228(1):34–36.
  • Bennett DC. How to make a melanoma: what do we know of the primary clonal events? Pigment Cell Melanoma Res. 2008;21(1):27–38.
  • Hauser JE, Kadekaro AL, Kavanagh RJ, et al. Melanin content and MC1R function independently affect UVR-induced DNA damage in cultured human melanocytes. Pigment Cell Res. 2006;19(4):303–314.
  • Nasti TH, Timares L. MC1R, eumelanin and pheomelanin: their role in determining the susceptibility to skin cancer. Photochem Photobiol. 2015;91(1):188–200.
  • Hill HZ. The function of melanin or six blind people examine an elephant. Bioessays. 1992;14(1):49–56.
  • Haylett AK, Nie Z, Brownrigg M, et al. Systemic photoprotection in solar urticaria with α-melanocyte-stimulating hormone analogue [Nle 4-d-Phe 7]-α-MSH. Br J Dermatol. 2011;164(2):407–414.
  • Lim HW, Grimes PE, Agbai O, et al. Afamelanotide and narrowband UV-B phototherapy for the treatment of vitiligo: a randomized multicenter trial. JAMA Dermatol. 2015;151(1):42–50.
  • Biolcati G, Aurizi C, Barbieri L, et al. Efficacy of the melanocortin analogue Nle4-D-Phe7-α-melanocyte-stimulating hormone in the treatment of patients with Hailey–Hailey disease. Clin Exp Dermatol. 2014;39(2):168–175.