ALLMedicine™ Protoporphyria Center
Research & Reviews 112 results
Pediatric Blood & Cancer; Wang YM, Gloude NJ et. al.
Jul 11th, 2021 - Cutaneous, hematopoietic, and hepatic manifestations of congenital erythropoietic porphyria (CEP) and erythropoietic protoporphyria (EPP) can be debilitating. We present our institution's experience with five patients with porphyria who underwent ...
https://doi.org/10.1038/s41436-021-01176-z 10.1111/j.1365-2133.1994.tb08577.x 10.1111/exd.12467 10.1001/jamadermatol.2017.1557 10.1086/498620 10.2340/00015555-3184 10.1111/j.1365-2133.2006.07472.x 10.1016/S0190-9622(89)70187-0 10.1001/jamadermatol.2020.0352 10.1034/j.1600-0781.2002.00009.x 10.1111/j.1365-2796.2010.02236.x 10.1056/NEJMoa1411481 10.1111/bjd.13769 10.1242/jcs.107.1.205 10.1007/s40271-019-00399-2 10.1242/dmm.027755 10.1093/nar/gkaa229 10.1016/j.ajhg.2018.12.021 10.1016/j.ajhg.2014.02.010 10.1186/s13023-020-01505-6 10.1056/NEJMc0805682 10.1111/bjd.15050 10.1159/000246484 10.1182/blood-2020-142467
Genetics in Medicine : Official Journal of the American C... Wensink D, Langendonk JG et. al.
May 5th, 2021 - Patients with erythropoietic protoporphyria (EPP), a severe painful photodermatosis, experience prodromal sensations when exposed to sunlight, which are the "warning signals" to exit the sun, as prolonged exposure causes an excruciatingly painful ...
Journal of Cutaneous Medicine and Surgery; Liu ZH, Shen H
May 5th, 2021 - Erythropoietic Protoporphyria.|2021|Liu ZH,Shen H,|
Haematologica Ducamp S, Luscieti S et. al.
Feb 19th, 2021 - A mutation in the iron-responsive element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated erythropoietic protoporphyria.|2021|Ducamp S,Luscieti S,Ferrer-Cortès X,Nicolas G,Manceau H,|genetics,metabolism,diagn...
Expert Review of Clinical Pharmacology; Wensink D, Wagenmakers MAEM et. al.
Jan 29th, 2021 - Introduction: In erythropoietic protoporphyria (EPP), an inherited disorder of heme biosynthesis, accumulation of protoporphyrin IX results in acute phototoxicity. EPP patients experience severe burning pain after light exposure, which results in ...
Drugs 2 results see all →
Clinicaltrials.gov 4 results
Oct 2nd, 2018 - Background: Erythropoietic protoporphyria (EPP) is characterized by development of painful skin symptoms upon exposure to visible light dye to accumulation of the photoactive substance protoporphyrin IX (PpIX) in the skin.This study aimed to quant...
Mar 25th, 2015 - PROTOCOL OUTLINE: This is a randomized, double blind, placebo controlled, crossover study. Patients are randomly assigned to 1 of 2 groups to receive cysteine hydrochloride orally twice daily, 2 capsules with breakfast and 2 with lunch. Group 1 re...
Mar 25th, 2015 - PROTOCOL OUTLINE: This is a phase III study, lasting 3 years; 1996-1999. Patients are administered L-cysteine orally twice daily, 2 capsules with breakfast and 2 with lunch. Patients fill in questionnaires and diary sheets about their reaction to ...
The purpose of the study is to evaluate the effect of exercise and heat on the light sensibility of patients with erythropoietic protoporphyria
News 15 results
Aug 25th, 2020 - Dersimelagon, a novel once-daily oral selective melanocortin-1 receptor agonist, significantly boosted sunlight tolerance in patients with erythropoietic protoporphyria in a multicenter, phase 2, randomized trial, Kirstine Belongie, PhD, reported ...
Feb 27th, 2020 - Aklief (trifarotene) Trifarotene is an agonist of retinoic acid receptors (RARs), with particular activity at the gamma subtype of RAR. Stimulation of RARs results in modulation of target genes that are associated with various processes, including...
Oct 8th, 2019 - The Food and Drug Administration has approved afamelanotide (Scenesse) to “increase pain-free light exposure” in adults with a history of phototoxic reactions from erythropoietic protoporphyria, a rare condition that causes extremely painful react.
Oct 8th, 2019 - The US Food and Drug Administration (FDA) has approved afamelanotide (Scenesse, Clinuvel), the first treatment to ease phototoxic reactions in patients with erythropoietic protoporphyria, according to an agency news release. Erythropoietic protopo...
Sep 10th, 2017 - Red blood cells Researchers say they have discovered a genetic mutation that triggers erythropoietic protoporphyria (EPP). The team performed genetic sequencing on members of a family from Northern France who had EPP of a previously unknown geneti.