Novel oral drug improves sunlight tolerance in patients with
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Erythropoietic protoporphyria (EPP) is the most common cutaneous porphyria as well as the most common porphyria of any type in children. It’s a rare but devastating disorder, with an incidence estimated at 1 in 75,000-200,000. It involves acute cutaneous photosensitivity to sunlight, which takes the form of incapacitating burning pain that lasts 3-7 days and is then followed by erythema and edema.

These phototoxic reactions are extremely painful and cause the patients to have extreme fear of the sun. Current first-line therapy is sun avoidance, the use of zinc oxide sunblock, and protective clothing. It’s inadequate for most patients.Patients with EPP experience prodromal symptoms – tingling, itching, and burning. Dersimelagon prolongs the time to onset of these prodromal symptoms by increasing melanin density in the skin in a dose-dependent fashion. Consistent with the drug’s mechanism of action, there was also a dose-related increase in hyperpigmentation side effects. New freckles, skin hyperpigmentation, and melanocytic nevi were observed in many patients.

EPP is an inherited metabolic disorder caused by a genetic mutation resulting in deficient activity of the enzyme ferrochelatase. This leads to accumulation of protoporphyrin IX in erythrocytes, skin, and the liver. The excess protoporphyrin is excreted in bile and can cause hepatobiliary disease. Indeed, up to 5% of patients with EPP develop liver failure.

FDA approved afamelanotide (Scenesse), also a melanocortin-1 receptor agonist, to increase pain-free light exposure in adults with a history of phototoxic reactions EPP. It is administered as an implant every 2 months.

source: https://www.mdedge.com/dermatology/article/227395/rare-diseases/novel-oral-drug-improves-sunlight-tolerance-patients
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