The breast cancer resistance protein protects against a major chlorophyll-derived dietary phototoxin and
protoporphyria. Proc.
Erythropoietic
protoporphyria presenting as hydroa aestivale.
Clinically, porphyrias are classified as (a) acute attacks (neuropsychiatric) only, e.g., acute intermittent porphyria (AIP) and ALA dehydratase deficiency; (b) cutaneous (photosensitivity), e.g., porphyria cutanea tarda (PCT), congenital erythropoietic porphyria (CEP), and erythropoietic
protoporphyria (EPP); (c) both cutaneous disease and acute attacks, e.g., variegate porphyria (VP) and hereditary coproporphyria (HCP).
Erythropoietic
protoporphyria (EPP) is the most common kind of porphyria.
Today, erythropoietic
protoporphyria (EPP) remains rare but is better understood as a genetic mutation that affects oxygen in the blood and makes sufferers allergic to the sun.
Erythropoietic
protoporphyria: a case report and literature review.
Clinuvel Pharmaceuticals Ltd (ASX: CUV) has reached an agreement with the German National Association of Statutory Health Insurance Funds (GKV-Spitzenverband or GKV-SV) for the pricing of Clinuvel's drug Scenesse (afamelanotide 16mg) for the treatment of erythropoietic
protoporphyria (EPP) patients, the company disclosed on Wednesday.
This has been reported following tetracycline hydrochloride as well as in five types of cutaneous porphyria (porphyria cutanea tarda, erythropoietic porphyria, erythropoietic
protoporphyria, and variegate porphyria as well as in pseudoporphyria).
Afamelanotide reduces the number and severity of phototoxic reactions, shortens recovery time, and markedly improves disease-related quality of life in adults who have erythropoietic
protoporphyria, according to a report in the New England Journal of Medicine.
The product is intended for the treatment of erythropoietic
protoporphyria, a market where Retrophin sees unmet demand.