Afamelanotide Research

Chawathe A, Sharma N

Afamelanotide, also known as melanotan-1, is a synthetic 13-amino acid peptidomimetic of α-melanocyte stimulating hormone (α-MSH), and is a critical peptide orphan drug used for the management of erythropoietic protoporphyria. It contains norleucine and D-phenylalanine at positions 4 ...

Minder AE, Barman-Aksözen J

Böhm M

Skin pigmentation by the endogenous pigment melanin is a highly coordinated process in which hormones play a crucial role. They are synthesized not only in classical endocrine organs but also in the skin itself, which acts as an independent endocrine organ. Among the endocrine target st...

Dechant C, Wäscher S, Granata F, Gusset N, Pettersson M, Aksözen MH et al.

The erythropoietic protoporphyrias (EPP) are a group of ultra-rare (1:100.000) inborn errors of the heme biosynthesis characterised by painful phototoxic reactions in tissue exposed to visible light. Afamelanotide is the only approved treatment for EPP and effectively prevents phototoxic reaction...

Falchetto R, Barman-Aksözen J

DerSarkissian M, Norregaard C, Romdhani H, Muthukumar A, Bobbili P, Chin M et al.

Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare genetic disorders caused by the accumulation of the toxic metabolite protoporphyrin IX, which results in painful phototoxicity upon sunlight exposure. Despite their significant impact on quality of life and potential f...

Bardhan M, Anand A, Javed A, Chilo MA, Khan N, Garg T et al.

Melanocortin receptors (MCRs) are responsible for various functions ranging from skin pigmentation, regulation of appetite, stress response and cognition, steroid synthesis, and energy balance to cellular regeneration and immunomodulation. The genetic polymorphism with tissue distribution ranging...

Toenne M, Schaefer T

Erythropoietic protoporphyria (EPP) is a rare photodermatosis presenting in early childhood with severe pain upon exposure to visible light, including sunlight and artificial sources, often without visible skin changes in the early phase. However, skin changes such as erythema, oedema or crusting...

Nkwanyana N, Kumar A, Chakraborty A, Potvin S, Thibaut-Koumba G, Nardone B et al.

Non-swelling silica-based resin was used for peptide synthesis. The strategy used is similar to that of solid-phase peptide synthesis (SPPS), referred to as silica-assisted solid-phase peptide synthesis (SiPPS). A 2-h coupling seemed to favor the coupling compared to that of 1-h standard coupling...

Dawe RS, Kerr A, Eadie E, Waterston S, O'Reilly M, McGuire VA et al.

Lai FY, Quigley C, Murray G, Gordon A, Yong JF, Yoo H et al.

Indoor tanning through sunbeds is linked to a heightened risk of skin cancers, particularly cutaneous squamous cell carcinoma and basal cell carcinoma, with significant increases in risk for users aged < 35 years. Despite regulations established by the Public Health (Sunbeds) Act 2014 in Irela...

Ismail IB, Bhat YJ, Ul Islam MS

Vitiligo is a common disorder of depigmentation caused by the progressive destruction of melanocytes that affects the skin, hair, and mucous membranes, clinically presenting as depigmented macules and leukotrichia. This condition, affecting millions of people worldwide, has a significant psychoso...

Homey B, Schelonke K, Schlegel CM, Bruch-Gerharz D, Weller K, Kiefer L et al.

Afamelanotide 16 mg (SCENESSE) is the first approved treatment for erythropoietic protoporphyria (EPP). EPP is a rare autosomal recessive inherited disorder of the haem biosynthesis pathway, where patients experience severe and debilitating acute phototoxicity. It affects at least one in 1...

Sato A, Morokuma K, Adachi T, Andou J, Miyashiro M, Suzuki T et al.

Activation of the melanocortin 1 receptor (MC1R) mediates melanogenesis in melanocytes, anti-inflammatory effects in inflammatory cells, and antifibrotic effects in fibroblasts. Thus, MC1R agonists are expected to be beneficial for treating skin, autoimmune, inflammatory, and fibrotic diseases. A...

Mittapelly N, Djehizian A, Telaprolu KC, McNally K, Puttrevu SK, Arjmandi-Tash O et al.

Several factors can affect drug release from polylactide coglycolide (PLGA)-based formulations, including polymer and drug properties, formulation components, manufacturing processes, and environmental in vitro or in vivo conditions. To achieve optimal release profiles for specific drug delivery ...

Kluijver LG, Wagenmakers MAEM, Wilson JHP, Langendonk JG

Erythropoietic protoporphyria (EPP) is a rare inherited metabolic disease, causing lifelong painful phototoxic reactions, minimal sunlight exposure, and vitamin D deficiency. Previous studies reported a high osteoporosis prevalence in EPP patients.To identify those at risk for low bone mineral de...

Weirath NA, Haskell-Luevano C

The melanocortin receptors are a centrally and peripherally expressed family of Class A GPCRs with physiological roles, including pigmentation, steroidogenesis, energy homeostasis, and others yet to be fully characterized. There are five melanocortin receptor subtypes that, apart from the melanoc...

Minder AE, Kluijver LG, Barman-Aksözen J, Minder EI, Langendonk JG

The erythropoietic protoporphyrias consist of three ultra-rare genetic disorders of the erythroid heme biosynthesis, including erythropoietic protoporphyria (EPP1), X-linked protoporphyria (XLEPP) and CLPX-protoporphyria (EPP2), which all lead to the accumulation of protoporphyrin IX (PPIX) in er...

Rovaris S, La Rosa G, Mezzana S, Tonon F, Mori L, Monti E et al.

In this case study, we describe a 21-year-old man with erythropoietic protoporphyria who sought medical attention in April 2022 for diffuse edema and erythema of the hands. These symptoms had been present since childhood and usually occurred soon after sun exposure. The patient's medical history ...

Leaf RK, Naik H, Jiang PY, Elmariah SB, Hodges P, Mead J et al.

Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare disorders of heme biosynthesis characterized by severe cutaneous phototoxicity. Afamelanotide, an α-melanocyte-stimulating hormone analogue, is the only approved treatment for protoporphyria and leads to increase...