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About 333 results

ALLMedicine™ Protoporphyria Center

Research & Reviews  112 results

Hematopoietic stem cell transplant for erythropoietic porphyrias in pediatric patients.
https://doi.org/10.1002/pbc.29231
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 ...

Erythropoietic Protoporphyria.
https://doi.org/10.1177/12034754211016295
Journal of Cutaneous Medicine and Surgery; Liu ZH, Shen H

May 5th, 2021 - Erythropoietic Protoporphyria.|2021|Liu ZH,Shen H,|

A mutation in the iron-responsive element of ALAS2 is a modifier of disease severity in...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8252951
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...

Afamelanotide for prevention of phototoxicity in erythropoietic protoporphyria.
https://doi.org/10.1080/17512433.2021.1879638
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 ...

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Drugs  2 results see all →

Clinicaltrials.gov  4 results

Light Exposure Patterns and Symptoms Among Patients With Erythropoietic Protoporphyria
https://clinicaltrials.gov/ct2/show/NCT03682731

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...

Study of Cysteine Hydrochloride for Erythropoietic Protoporphyria
https://clinicaltrials.gov/ct2/show/NCT00004831

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...

Phase III Study of L-Cysteine in Patients With Erythropoietic Protoporphyria
https://clinicaltrials.gov/ct2/show/NCT00004940

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 ...

Does Exercise and Heat Increase the Lightsensibility in Patients With Erythropoietic Protoporphyria
https://clinicaltrials.gov/ct2/show/NCT00206869

The purpose of the study is to evaluate the effect of exercise and heat on the light sensibility of patients with erythropoietic protoporphyria

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News  15 results

Novel Oral Drug Improves Sunlight Tolerance in Patients With Erythropoietic Protoporphyria
https://www.medscape.com/viewarticle/936274

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 ...

FDA Approvals, Highlights, and Summaries: Dermatology
https://reference.staging.medscape.com/viewarticle/925392

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...

FDA approves afamelanotide for treatment of rare condition with light-induced pain
https://www.mdedge.com/fedprac/article/209685/rare-diseases/fda-approves-afamelanotide-treatment-rare-condition-light?channel=268
Christopher Palmer

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.

FDA OKs New Treatment Afamelanotide for Phototoxic Reactions
https://www.medscape.com/viewarticle/919622

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...

Team identifies mutation that causes EPP
https://www.mdedge.com/hematology-oncology/article/185441/anemia/team-identifies-mutation-causes-epp
HT Staff

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.

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