Results 1 to 10 of about 526 (116)

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, Elisabeth I Minder, Xiaoye Schneider-Yin   +2 more
exaly   +8 more sources

Afamelanotide for Treatment of the Protoporphyrias: Impact on Quality of Life and Laboratory Parameters in a US Cohort [PDF]

Life
Background: Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare disorders of heme biosynthesis characterized by severe cutaneous phototoxicity.
David E Leaf, Karl E Anderson, Amy K Dickey   +2 more
exaly   +5 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, Anthony Kam, Lily Murphy, Philippe Wolgen, Gill Walker, Pilar Bilbao, Geoffrey C Cloud   +6 more
doaj   +3 more sources

New pharmacotherapies for the erythropoietic protoporphyrias: an analysis of trial protocols from a patient perspective [PDF]

Orphanet Journal of Rare Diseases
Background 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, Sebastian Wäscher, Francesca Granata, Nicole Gusset, Mårten Pettersson, Mehmet Hakan Aksözen, Marc Höglinger, Rocco Falchetto, Jasmin Barman-Aksözen   +8 more
doaj   +3 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, Giuseppe La Rosa, Sara Mezzana, Francesco Tonon, Luigi Mori, Eugenio Monti, Giuseppe Mazzeo, Piergiacomo Calzavara-Pinton, Mariachiara Arisi   +8 more
doaj   +3 more sources

Beyond Pigmentation: Signs of Liver Protection During Afamelanotide Treatment in Swiss Patients With Erythropoietic Protoporphyria, an Observational Study.

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, Elisabeth I Minder, Xiaoye Schneider-Yin   +2 more
exaly   +3 more sources

German Cohort Observational Study to Investigate the Short- and Long-Term Safety and Clinical Effectiveness of Afamelanotide 16 mg (SCENESSE) in Patients With Erythropoietic Protoporphyria (EPP) [PDF]

Photodermatology Photoimmunology and Photomedicine
ABSTRACT Background 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 140,000 of the European population.
Daniela Bruch-Gerharz, Joanna Wegner
exaly   +3 more sources

Congenital Erythropoietic Porphyria with Persistent Severe Biochemical Abnormalities and a Non-Mutilating Clinical Course: A Case Report [PDF]

Reports
Background 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, Ehab Takrori, Kaneez S. Khan, Bilal Rahimuddin, Sanjaya K. Upadhyaya, Pintu K. Gami, Sakshi Singal   +6 more
doaj   +2 more sources

Treatment advances in Vitiligo: An Updated Review [PDF]

Dermatology Practical & Conceptual
Introduction 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.
Ishrat Binti Ismail, Yasmeen Jabeen Bhat, Mohd Shurjeel ul Islam   +2 more
doaj   +2 more sources

Advances in the management of erythropoietic protoporphyria – role of afamelanotide

The Application of Clinical Genetics, 2016
Ashley M Lane,1 Jerome T McKay,2 Herbert L Bonkovsky1 1Department of Internal Medicine, Section on Gastroenterology; 2Department of Microbiology and Immunology, Wake Forest University School of Medicine, Winston-Salem, NC, USAAbstract ...
Lane AM, McKay JT, Bonkovsky HL
doaj   +1 more source