The active treatment also markedly improved every aspect of patients' quality of life, as measured by the Erythropoietic Protoporphyria
Deybach, "Erythropoietic protoporphyria
," Orphanet Journal of Rare Diseases, vol.
This South African family, and several others in Europe, were shown to have a novel disease now termed X-linked protoporphyria
. (19) This arises pathogenetically from a gain-of-function mutation in the erythroid form of ALA synthase, which results in a greatly increased flux of porphyrins through the haem biosynthetic pathway; ferrochelatase becomes rate-limiting (probably at the level of iron availability) and free and zinc protoporphyrin accumulates, hence the resemblance to classic EPP, where the accumulation of protoporphyrin is caused by an inherited deficiency of ferrochelatase.
in Sweden: demographic, clinical, biochemical and genetic characteristics.
(EPP) is an autosomal dominant defect in haem synthesis caused by defective ferrochelatase; the terminal enzyme.
GOTHENBURG, SWEDEN -- A resorbable subcutaneous implant of afamelanotide significantly reduced painful phototoxic attacks in patients with erythropoietic protoporphyria
in a year-long multinational clinical trial.
It took two years for medics to diagnose her with erythropoietic protoporphyria
, which affects fewer than 400 people in the UK.
Clinuvel Pharmaceuticals achieved positive results from a Phase III trial of Scenesse in patients with erythropoietic protoporphyria
(EPP), showing that the drug has the ability to reduce and prevent painful phototoxic reactions.
Tia's incurable condition was noticed at one -though doctors disagreed on a diagnosis before she was found to have rare erythropoietic protoporphyria
Results released today from a Phase III trial of the drug SCENESSE (R), conducted by Melbourne-based Clinuvel Pharmaceuticals Limited (ASX:CUV) (PINK:CLVLY), have shown that the drug has the ability to reduce and prevent painful phototoxic reactions experienced by patients with erythropoietic protoporphyria
Loss of hereditary uterine protoporphyria
through chromosomal rearrangement in mutant Rhode Island Red hens.