Afamelanotide for erythropoietic protoporphyria

New England Journal of Medicine

Volumn 373, Issue 1, 2015, Pages 48-59

  Langendonk, J G ^a   Balwani, M ^c   Anderson, K E ^d   Bonkovsky, H L ^e   Anstey, A V ^f   Bissell, D M ⁱ   Bloomer, J ^j   Edwards, C ^f   Neumann, N J ^k   Parker, C ^l   Phillips, J D ^l   Lim, H W ^m   Hamzavi, I ^m   Deybach, J C ⁿ   Kauppinen, R ^o   Rhodes, L E ^g   Frank, J ^b,k   Murphy, G M ^p   Karstens, F P J ^a   Sijbrands, E J G ^a   De Rooij, F W M ^a   Lebwohl, M ^c   Naik, H ^c   Goding, C R ^h   Wilson, J H P ^a   Desnick, R J ^c   more..

^a Center for Lysosomal and Metabolic Diseases   (Netherlands)

^b MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^c MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF TEXAS MEDICAL BRANCH   (United States)

^e WAKE FOREST SCHOOL OF MEDICINE   (United States)

^f ROYAL GWENT HOSPITAL   (United Kingdom)

^g UNIVERSITY OF MANCHESTER   (United Kingdom)

^h UNIVERSITY OF OXFORD   (United Kingdom)

ⁱ UNIVERSITY OF CALIFORNIA   (United States)

^j University of Alabama at Birmingham   (United States)

^k HEINRICH HEINE UNIVERSITY   (Germany)

^l UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^m HENRY FORD HOSPITAL   (United States)

ⁿ CENTRE DE RECHERCHE SUR L INFLAMMATION   (France)

^o HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^p BEAUMONT HOSPITAL   (Ireland)

more..

Author keywords

[No Author keywords available]

Indexed keywords

AFAMELANOTIDE; PLACEBO; ALPHA INTERMEDIN; DRUG IMPLANT;

ABDOMINAL DISCOMFORT; ABDOMINAL PAIN; ADULT; APPLICATION SITE DISCOLORATION; ARTHRALGIA; ARTICLE; BACKACHE; COMPARATIVE EFFECTIVENESS; CONTROLLED STUDY; COUGHING; DIARRHEA; DISEASE SEVERITY; DIZZINESS; DOUBLE BLIND PROCEDURE; DRUG EFFICACY; DRUG FATALITY; DRUG SAFETY; DYSPEPSIA; ECZEMA; ERYTHROPOIETIC PROTOPORPHYRIA; EUROPE; FATIGUE; HEADACHE; HUMAN; HUMERUS FRACTURE; HYPERPIGMENTATION; INFLUENZA; INTERVERTEBRAL DISK HERNIA; LUNG EMBOLISM; MAJOR CLINICAL STUDY; MELANOMA; MIGRAINE; MULTICENTER STUDY; MUSCULOSKELETAL PAIN; MYALGIA; NAUSEA; OROPHARYNX PAIN; PHOTOTOXICITY; PIGMENT DISORDER; PIGMENTED NEVUS; PRIORITY JOURNAL; PRURITUS; QUALITY OF LIFE; RANDOMIZED CONTROLLED TRIAL; RHINOPHARYNGITIS; SINUS HEADACHE; SINUSITIS; SUN EXPOSURE; TOOTH PAIN; TOTAL QUALITY MANAGEMENT; UNITED STATES; UPPER ABDOMINAL PAIN; UPPER RESPIRATORY TRACT INFECTION; VIRAL GASTROENTERITIS; ADVERSE EFFECTS; ANALOGS AND DERIVATIVES; CLINICAL TRIAL; COMPLICATION; DRUG IMPLANT; MIDDLE AGED; PAIN; PROTOPORPHYRIA, ERYTHROPOIETIC; SUNLIGHT;

ADULT; ALPHA-MSH; DOUBLE-BLIND METHOD; DRUG IMPLANTS; HUMANS; MIDDLE AGED; PAIN; PROTOPORPHYRIA, ERYTHROPOIETIC; SUNLIGHT;

EID: 84936097812     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMoa1411481     Document Type: Article

References (37)

1. Anderson KE, Sassa S, Bishop DF, Desnick RJ. Disorders of heme biosynthesis: X-linked sideroblastic anemia and the porphyrias. In: Valle D, Beaudet AL, Vogelstein B, et al., eds. The online metabolic and molecular bases of inherited disease. New York: McGraw-Hill, 2006: 95-105.
2. Todd DJ. Erythropoietic protoporphyria. Br J Dermatol 1994; 131: 751-66.
3. Bonkovsky HL, Guo JT, Hou W, Li T, Narang T, Thapar M. Porphyrin and heme metabolism and the porphyrias. Compr Physiol 2013; 3: 365-401.
4. Balwani M, Bloomer J, Desnick R. Erythropoietic protoporphyria, autosomal recessive. In: Pagon RA, Adam MP, Ardinger HH, et al., eds. GeneReviews. Seattle: University of Washington, 2014.
5. 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: 408-14.
6. Balwani M, Doheny D, Bishop DF, et al. Loss-of-function ferrochelatase and gainof- function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and X-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria. Mol Med 2013; 19: 26-35.
7. Porter RM, Anstey A. Evidence and conjecture about mechanisms of cutaneous disease in photodermatology. Exp Dermatol 2014; 23: 543-6.
8. Bloomer JR. The liver in protoporphyria. Hepatology 1988; 8: 402-7.
9. McGuire BM, Bonkovsky HL, Carithers RL Jr, et al. Liver transplantation for erythropoietic protoporphyria liver disease. Liver Transpl 2005; 11: 1590-6.
10. Anstey AV, Hift RJ. Liver disease in erythropoietic protoporphyria: Insights and implications for management. Gut 2007; 56: 1009-18.
11. Gouya L, Martin-Schmitt C, Robreau AM, et al. Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria. Am J Hum Genet 2006; 78: 2-14.
12. Lecha M, Puy H, Deybach JC. Erythropoietic protoporphyria. Orphanet J Rare Dis 2009; 4: 19.
13. Lecha M. Erythropoietic protoporphyria. Photodermatol Photoimmunol Photomed 2003; 19: 142-6.
14. Thunell S, Harper P. Porphyrins, por-phyrin metabolism, porphyrias. III. Diagnosis, care and monitoring in porphyria cutanea tarda - suggestions for a handling programme. Scand J Clin Lab Invest 2000; 60: 561-79.
15. Holme SA, Anstey AV, Finlay AY, Elder GH, Badminton MN. Erythropoietic protoporphyria in the U.K.: clinical features and effect on quality of life. Br J Dermatol 2006; 155: 574-81.
16. Wahlin S, Floderus Y, Stl P, Harper P. Erythropoietic protoporphyria in Sweden: demographic, clinical, biochemical and genetic characteristics. J Intern Med 2011; 269: 278-88.
17. Murphy GM. Diagnosis and management of the erythropoietic porphyrias. Dermatol Ther 2003; 16: 57-64.
18. 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.
19. Castrucci AM, Hadley ME, Sawyer TK, Hruby VJ. Enzymological studies of melanotropins. Comp Biochem Physiol B 1984; 78: 519-24.
20. Sawyer TK, Sanfilippo PJ, Hruby VJ, et al. 4-Norleucine, 7-D-phenylalanine-alphamelanocyte- stimulating hormone: A highly potent alpha-melanotropin with ultralong biological activity. Proc Natl Acad Sci U S A 1980; 77: 5754-8.
21. Fabrikant J, Touloei K, Brown SM. A review and update on melanocyte stimulating hormone therapy: Afamelanotide. J Drugs Dermatol 2013; 12: 775-9.
22. Pathak MA. Functions of melanin and protection by melanin. In: Zeise L, Chedekel MR, Fitzpatrick TB, eds. Melanin: Its role in human photoprotection. Overland Park, KS: Valdenmar, 1995: 125-34.
23. Kaidbey KH, Agin PP, Sayre RM, Kligman AM. Photoprotection by melanin - A comparison of black and Caucasian skin. J Am Acad Dermatol 1979; 1: 249-60.
24. Bustamante J, Bredeston L, Malanga G, Mordoh J. Role of melanin as a scavenger of active oxygen species. Pigment Cell Res 1993; 6: 348-53.
25. Kollias N, Sayre RM, Zeise L, Chedekel MR. Photoprotection by melanin. J Photochem Photobiol B 1991; 9: 135-60.
26. 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.
27. 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.
28. Minder EI, Schneider-Yin X. Afamelanotide (CUV1647) in dermal photo toxicity of erythropoietic protoporphyria. Expert Rev Clin Pharmacol 2015; 8: 43-53.
29. Tollånes MC, Aarsand AK, Villanger JH, et al. Establishing a network of specialist porphyria centres - effects on diagnostic activities and services. Orphanet J Rare Dis 2012; 7: 93.
30. Haylett AK, Nie Z, Brownrigg M, Taylor R, Rhodes LE. Systemic photo protection in solar urticaria with α-melanocyte stimulating hormone analogue [Nle4-DPhe7]- α-MSH. Br J Dermatol 2011; 164: 407-14.
31. Bennett DC. How to make a melanoma: What do we know of the primary clonal events? Pigment Cell Melanoma Res 2008; 21: 27-38.
32. Luger TA, Brzoska T, Scholzen TE, et al. The role of alpha-MSH as a modulator of cutaneous inflammation. Ann N Y Acad Sci 2000; 917: 232-8.
33. Brzoska T, Luger TA, Maaser C, Abels C, Böhm M. Alpha-melanocyte-stimulating hormone and related tripeptides: Biochemistry, anti inflammatory and protective effects in vitro and in vivo, and future perspectives for the treatment of immune mediated inflammatory diseases. Endocr Rev 2008; 29: 581-602.
34. 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: 303-14.
35. Hill HZ. The function of melanin or six blind people examine an elephant. Bioessays 1992; 14: 49-56.
36. Osawa M, Egawa G, Mak SS, et al. Molecular characterization of melanocyte stem cells in their niche. Development 2005; 132: 5589-99.
37. Biolcati G, Marchesini E, Sorge F, Barbieri L, Schneider-Yin X, Minder EI. Long term observational study of afamelanotide in 115 patients with erythropoietic protoporphyria. Br J Dermatol 2015; 172: 1601-12.