Journal Article

Afamelanotide for Erythropoietic Protoporphyria

Deybach, Jean-Charles, Anderson, Karl E, Parker, Charles, Bissell, D. Montgomery, Anstey, Alexander V, Kauppinen, Raili, Lebwohl, Mark, Phillips, John D, Rhodes, Lesley E, Lim, Henry W, Frank, Jorge, Sijbrands, Eric J.G, Langendonk, Janneke G, Bonkovsky, Herbert L, Neumann, Norbert J, Desnick, Robert J, Goding, Colin R, Karstens, Francois P.J, de Rooij, Felix W.M, Bloomer, Joseph, Balwani, Manisha, Murphy, Gillian M, Hamzavi, Iltefat, Naik, Hetanshi, Wilson, J.H. Paul, Edwards, Chris

2015

Overview

In patients with erythropoietic protoporphyria, sensitivity to the sun leads to pain and compromised quality of life. In two clinical trials, one in Europe and one in the United States, a peptide analogue of an α-melanocyte–stimulating hormone alleviated symptoms. Erythropoietic protoporphyria is a rare, autosomal recessive inborn error of metabolism that typically manifests in early childhood as severe painful photosensitivity. The photosensitivity results from accumulated protoporphyrin in erythroid cells and tissues because of the decreased activity of ferrochelatase, the heme biosynthetic enzyme that inserts iron into protoporphyrin to form heme. 1 – 4 An X-linked form of erythropoietic protoporphyria 5 , 6 that accounts for 2 to 10% of cases results from a gain of function of erythroid-specific aminolevulinic acid synthase 2. Pathophysiologically, protoporphyrin is released from erythroid cells into the circulation, gains access to the vascular endothelium and liver, and is excreted . . .

• Publisher: Massachusetts Medical Society
• Subject: Adult / alpha-MSH - adverse effects / alpha-MSH - analogs & derivatives / alpha-MSH - therapeutic use / Clinical trials / Double-Blind Method / Drug Implants / Erythropoietic protoporphyria / Free radicals / Hormones / Humans / Light / Medical treatment / Metabolic disorders / Middle Aged / Pain / Pain - etiology / Pain - prevention & control / Phototoxicity / Protoporphyria, Erythropoietic - complications / Protoporphyria, Erythropoietic - drug therapy / Quality of life / Sun / Sunlight - adverse effects / Ultraviolet radiation