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About 615 results

ALLMedicine™ Protoporphyria Center

Research & Reviews  291 results

Clinical and molecular epidemiology of erythropoietic protoporphyria in Italy.
https://doi.org/10.1684/ejd.2020.3880
European Journal of Dermatology : EJD; Ventura P, Brancaleoni V et. al.

Oct 6th, 2020 - Erythropoietic protoporphyria (EPP) is a rare inherited disease associated with heme metabolism, characterized by severe life-long photosensitivity and liver involvement. To provide epidemiological data of EPP in Italy. Prospective/retrospective d...

Increased phototoxic burn tolerance time and quality of life in patients with erythropo...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7437008
Orphanet Journal of Rare Diseases; Barman-Aksözen J, Nydegger M et. al.

Aug 19th, 2020 - Erythropoietic protoporphyria (EPP) is an ultra-rare genetic disorder (prevalence 1:150`000) characterized by instant painful phototoxic burn reactions in skin exposed to visible light. Afamelanotide is the first clinically tested therapy effectiv...

Erythropoietic protoporphyria in pregnancy.
https://doi.org/10.1080/01443615.2020.1777954
Journal of Obstetrics and Gynaecology : the Journal of the Institute of Obstetrics and Gynaecology; Nevins EG, Wijesiriwardana A

Jul 26th, 2020 - Erythropoietic protoporphyria in pregnancy.|2020|Nevins EG,Wijesiriwardana A,|

Human aminolevulinate synthase structure reveals a eukaryotic-specific autoinhibitory l...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7272653
Nature Communications; Bailey HJ, Bezerra GA et. al.

Jun 5th, 2020 - 5'-aminolevulinate synthase (ALAS) catalyzes the first step in heme biosynthesis, generating 5'-aminolevulinate from glycine and succinyl-CoA. Inherited frameshift indel mutations of human erythroid-specific isozyme ALAS2, within a C-terminal (Ct)...

Association of Afamelanotide With Improved Outcomes in Patients With Erythropoietic Pro...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7081144
JAMA Dermatology; Wensink D, Wagenmakers MAEM et. al.

Mar 18th, 2020 - The effectiveness of afamelanotide treatment in patients with erythropoietic protoporphyria (EPP) in clinical practice who experience pain after light exposure that substantially impairs quality of life is unknown. To evaluate the association of a...

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Drugs  2 results see all →

Clinicaltrials.gov  305 results

Clinical and molecular epidemiology of erythropoietic protoporphyria in Italy.
https://doi.org/10.1684/ejd.2020.3880
European Journal of Dermatology : EJD; Ventura P, Brancaleoni V et. al.

Oct 6th, 2020 - Erythropoietic protoporphyria (EPP) is a rare inherited disease associated with heme metabolism, characterized by severe life-long photosensitivity and liver involvement. To provide epidemiological data of EPP in Italy. Prospective/retrospective d...

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

Aug 24th, 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 ...

Increased phototoxic burn tolerance time and quality of life in patients with erythropo...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7437008
Orphanet Journal of Rare Diseases; Barman-Aksözen J, Nydegger M et. al.

Aug 19th, 2020 - Erythropoietic protoporphyria (EPP) is an ultra-rare genetic disorder (prevalence 1:150`000) characterized by instant painful phototoxic burn reactions in skin exposed to visible light. Afamelanotide is the first clinically tested therapy effectiv...

Erythropoietic protoporphyria in pregnancy.
https://doi.org/10.1080/01443615.2020.1777954
Journal of Obstetrics and Gynaecology : the Journal of the Institute of Obstetrics and Gynaecology; Nevins EG, Wijesiriwardana A

Jul 26th, 2020 - Erythropoietic protoporphyria in pregnancy.|2020|Nevins EG,Wijesiriwardana A,|

Human aminolevulinate synthase structure reveals a eukaryotic-specific autoinhibitory l...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7272653
Nature Communications; Bailey HJ, Bezerra GA et. al.

Jun 5th, 2020 - 5'-aminolevulinate synthase (ALAS) catalyzes the first step in heme biosynthesis, generating 5'-aminolevulinate from glycine and succinyl-CoA. Inherited frameshift indel mutations of human erythroid-specific isozyme ALAS2, within a C-terminal (Ct)...

see more →

News  17 results

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

Aug 24th, 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 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 7th, 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.

FDA approves first treatment to increase pain-free light exposure in patients with a rare disorder
http://www.fda.gov/news-events/press-announcements/fda-approves-first-treatment-increase-pain-free-light-exposure-patients-rare-disorder

For Immediate Release: October 08, 2019 The U.S. Food and Drug Administration today granted approval to Scenesse (afamelanotide) to increase pain-free light exposure in adult patients with a history of phototoxic reactions (damage to skin) from er...

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