Results 11 to 20 of about 601 (148)

The GLYT1 inhibitor bitopertin mitigates erythroid PPIX production and liver disease in erythroid protoporphyria [PDF]

The Journal of Clinical Investigation
Erythropoietic protoporphyria (EPP) is a genetic disorder typically resulting from decreased ferrochelatase (FECH) activity, the last enzyme in heme biosynthesis.
Sarah Ducamp, Min Wu, Juan Putra, Dean R. Campagna, Yi Xiang, Vu Hong, Matthew M. Heeney, Amy K. Dickey, Rebecca K. Leaf, Mark D. Fleming, Brian MacDonald, Paul J. Schmidt   +11 more
doaj   +2 more sources

Inhibition of ABCG2 prevents phototoxicity in a mouse model of erythropoietic protoporphyria [PDF]

Nature Communications
Erythropoietic protoporphyria (EPP) is a genetic disease characterized by protoporphyrin IX-mediated painful phototoxicity. Currently, options for the management of EPP-associated phototoxicity are limited and no oral medication is available.
Junjie Zhu, Fu-Ying Qin, Saifei Lei, Ruizhi Gu, Qian Qi, Jie Lu, Karl E. Anderson, Peter Wipf, Xiaochao Ma   +8 more
doaj   +2 more sources

Real-world assessment of the patient profile, clinical characteristics, treatment patterns, and outcomes associated with erythropoietic and X-linked protoporphyria. [PDF]

J Dermatol
Abstract Erythropoietic protoporphyria (EPP) and X‐linked protoporphyria (XLP) are rare genetic disorders. There are limited data regarding how these disorders are managed in real‐world settings. The aim of this study was to document the characteristics and treatment patterns among patients diagnosed with EPP or XLP in general real‐world settings in ...
Silver SM, Houghton K, Hitchens A, Ansquer VD, Ciepielewska M.   +4 more
europepmc   +2 more sources

Erythropoietic protoporphyria linked to intricate double heterozygous mutations in theFECH gene: a case report and literature review [PDF]

Orphanet Journal of Rare Diseases
Background Erythropoietic protoporphyria is an inherited disorder characterized by mutations in the FECH gene, which encodes the enzyme ferrous chelatase.
Hongli Xiong, Song He, Zhaoxia Yang, Ruizao Zheng, Huihong Yu   +4 more
doaj   +2 more sources

Practical recommendations for biochemical and genetic diagnosis of the porphyrias. [PDF]

Liver Int
Abstract The porphyrias are a group of rare inborn errors of metabolism associated with various clinical presentations and long‐term complications, making them relevant differential diagnoses to consider for many clinical specialities, especially hepatologists, gastroenterologists and dermatologists.
Aarsand AK, To-Figueras J, Whatley S, Sandberg S, Schmitt C.   +4 more
europepmc   +2 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.
Rebecca K. Leaf, Hetanshi Naik, Paul Y. Jiang, Sarina B. Elmariah, Pamela Hodges, Jennifer Mead, John Trinidad, Behnam Saberi, Benny Tran, Sarah Valiante, Francesca Mernick, David E. Leaf, Karl E. Anderson, Amy K. Dickey   +13 more
doaj   +2 more sources

Development and Content Validation of Novel Patient-Reported Outcome Measures to Assess Disease Severity and Change in Patients with Erythropoietic Protoporphyria: The EPP Impact Questionnaire (EPIQ)

Patient Related Outcome Measures
Susan D Mathias,1 Laurie Burke,2 Hilary H Colwell,1 George Mensing,3 Will Savage,3 Hetanshi Naik4 1Health Outcomes Solutions, Palm Beach Gardens, FL, USA; 2LORA Group, Normal, IL, USA; 3Disc Medicine, Watertown, MA, USA; 4Department of Genetics, Stanford
Mathias SD, Burke L, Colwell HH, Mensing G, Savage W, Naik H   +5 more
doaj   +3 more sources

Illuminating Dersimelagon: A Novel Agent in the Treatment of Erythropoietic Protoporphyria and X-Linked Protoporphyria

Pharmaceuticals, 2023
Erythropoietic protoporphyria (EPP) is a genetic disorder stemming from reduced ferrochelatase expression, the final enzyme in the pathway of heme biosynthesis.
Katelyn E. Madigan, Sean R. Rudnick, Matthew A. Agnew, Numra Urooj, Herbert L. Bonkovsky   +4 more
doaj   +1 more source

Correction to: Validation of a novel patient reported tool to assess the impact of treatment in erythropoietic protoporphyria: the EPP-QoL [PDF]

Journal of Patient-Reported Outcomes, 2021
Following publication of the original article [1], the authors identified an error in the author name of G. Biolcati. The incorrect author name is: G. Biolcatti The correct author name is: G. Biolcati The author group has been updated above and the original article [1] has been corrected.
Biolcati, G., Hanneken, S., Minder, E. I., Neumann, N. J., Wilson, J. H.P., Wolgen, P. J., Wright, D.J., Lloyd, A. J.   +7 more
openaire   +3 more sources

Current trials in erythropoietic protoporphyria: are placebo controls ethical?

Orphanet Journal of Rare Diseases, 2023
A new active substance called “dersimelagon” (MT-7117) is being tested as an alternative treatment option for Erythropoietic protoporphyria (EPP). At the moment, dersimelagon is being tested both in the US and in Europe in a phase III placebo-controlled ...
Jasmin Barman-Aksözen, Mattia Andreoletti, Alessandro Blasimme   +2 more
doaj   +1 more source