Afamelanotide Is Associated with Dose-Dependent Protective Effect from Liver Damage Related to Erythropoietic Protoporphyria [PDF]
Life, 2023 In animal models, melanocyte-stimulating hormones (MSHs) protect the liver from various injuries. Erythropoietic protoporphyria (EPP), a metabolic disorder, leads to the accumulation of protoporphyrin (PPIX).
Anna-Elisabeth Minder
exaly +4 more sources
New pharmacotherapies for the erythropoietic protoporphyrias: an analysis of trial protocols from a patient perspective [PDF]
Orphanet Journal of Rare DiseasesBackground 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.
Cornelia Dechant +8 more
doaj +4 more sources
Afamelanotide for Treatment of the Protoporphyrias: Impact on Quality of Life and Laboratory Parameters in a US Cohort [PDF]
LifeBackground: Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare disorders of heme biosynthesis characterized by severe cutaneous phototoxicity.
Hetanshi Naik +2 more
exaly +4 more sources
A feasibility and safety study of afamelanotide in acute stroke patients – an open label, proof of concept, phase iia clinical trial [PDF]
BMC Neurology, 2023 Background Neuroprotective agents have the potential to improve the outcomes of revascularisation therapies in acute ischemic stroke patients (AIS) and in those unable to receive revascularisation.
Vimal Stanislaus +6 more
doaj +2 more sources
An overview of the cutaneous porphyrias [version 1; referees: 2 approved] [PDF]
F1000Research, 2017 This is an overview of the cutaneous porphyrias. It is a narrative review based on the published literature and my personal experience; it is not based on a formal systematic search of the literature.
Robert Dawe
doaj +5 more sources
Patient-recorded outcome to assess therapeutic efficacy in protoporphyria-induced dermal phototoxicity: a proposal [PDF]
Health and Quality of Life Outcomes, 2010 Background Protoporphyria (PP) resulting from two rare, inherited diseases of heme biosynthesis leads to dermal phototoxicity by accumulation of the heme precursor protoporphyrin IX.
Minder Christoph E +2 more
doaj +2 more sources
Congenital Erythropoietic Porphyria with Persistent Severe Biochemical Abnormalities and a Non-Mutilating Clinical Course: A Case Report [PDF]
ReportsBackground and Clinical Significance: Congenital erythropoietic porphyria (CEP), also known as Günther disease, is a rare autosomal recessive porphyria caused by a deficiency of uroporphyrinogen III synthase, leading to the accumulation of phototoxic ...
Supriya Peshin +6 more
doaj +2 more sources
When the diagnosis is written in the DNA: a case of erythropoietic protoporphyria in a patient with a chromosome 18 deletion [PDF]
Dermatology Reports, 2023 We present a case of erythropoietic protoporphyria (EPP) in a 21-year-old man who sought medical attention in April 2022 due to diffuse edema and erythema of the hands, which he had been experiencing since childhood and occurring shortly after sun ...
Sara Rovaris +8 more
doaj +2 more sources
Computational Screening of Approved Drugs for Inhibition of the Antibiotic Resistance Gene mecA in Methicillin-Resistant Staphylococcus aureus (MRSA) Strains [PDF]
BioTech, 2023 Antibiotic resistance is a critical problem that results in a high morbidity and mortality rate. The process of discovering new chemotherapy and antibiotics is challenging, expensive, and time-consuming, with only a few getting approved for clinical use.
Benson Otarigho, Mofolusho O. Falade
doaj +2 more sources
Therapeutic Advances in Rare Disease, 2021 Erythropoietic protoporphyria (EPP) is an ultra-rare inherited disorder with overproduction of protoporphyrin in maturating erythroblasts. This excess protoporphyrin leads to incapacitating phototoxic burns in sunlight exposed skin.
Anna-Elisabeth Minder +1 more
exaly +2 more sources