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About 475 results

ALLMedicine™ Protoporphyria Center

Research & Reviews  151 results

Effect of Oral Cimetidine in the Protoporphyrias
https://clinicaltrials.gov/ct2/show/NCT05020184

Jun 21st, 2022 - Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are genetic defects of heme biosynthesis that cause life-long, painful cutaneous sensitivity to light. EPP and XLP, collectively called the protoporphyrias, result in the accumu...

Study to Evaluate Efficacy, Safety, and Tolerability of MT-7117 in Subjects With Erythropoietic Protoporphyria or X-Linked Protoporphyria
https://clinicaltrials.gov/ct2/show/NCT04402489

Apr 25th, 2022 - The primary objective of this study is to investigate the efficacy of MT-7117 on time to onset and severity of first prodromal symptoms (burning, tingling, or stinging) associated with sunlight exposure in subjects with EPP or XLP aged 12-75.

Solar Urticaria Differential Diagnoses
https://emedicine.medscape.com/article/1050485-differential

Apr 11th, 2022 - Diagnostic Considerations Polymorphous light eruption is much more common than solar urticaria and may affect the same sites, but the lesions do not subside as quickly upon cessation of sun exposure Erythropoietic protoporphyria usually manifests ...

Reappraisal of liver transplantation for erythropoietic protoporphyria: A deadly combin...
https://doi.org/10.1111/petr.14261
Pediatric Transplantation; Endo Y, Hibi T et. al.

Mar 1st, 2022 - Erythropoietic protoporphyria (EPP) is a rare inherited disorder that causes the accumulation of protoporphyrin in the erythrocytes, skin, and liver. Severe protoporphyric hepatopathy results in liver failure, requiring both liver and bone marrow ...

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Drugs  2 results see all →

Clinicaltrials.gov  16 results

Effect of Oral Cimetidine in the Protoporphyrias
https://clinicaltrials.gov/ct2/show/NCT05020184

Jun 21st, 2022 - Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are genetic defects of heme biosynthesis that cause life-long, painful cutaneous sensitivity to light. EPP and XLP, collectively called the protoporphyrias, result in the accumu...

Study to Evaluate Efficacy, Safety, and Tolerability of MT-7117 in Subjects With Erythropoietic Protoporphyria or X-Linked Protoporphyria
https://clinicaltrials.gov/ct2/show/NCT04402489

Apr 25th, 2022 - The primary objective of this study is to investigate the efficacy of MT-7117 on time to onset and severity of first prodromal symptoms (burning, tingling, or stinging) associated with sunlight exposure in subjects with EPP or XLP aged 12-75.

Phase III Confirmatory Study in Erythropoietic Protoporphyria (EPP)
https://clinicaltrials.gov/ct2/show/NCT00979745

Oct 12th, 2021 - PURPOSE: To determine whether afamelanotide can reduce the severity of phototoxic reactions in patients with EPP. THEORETICAL FRAMEWORK: EPP is a genetic photosensitivity disorder where the mainstays of management are covering up from sunlight, sy...

Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC))
https://clinicaltrials.gov/ct2/show/NCT01880983

Jun 24th, 2021 - This study examines the possibility that abnormal expression of the gene mitoferrin-1, which codes for the protein that transports iron in the mitochondria of cells, is a contributing factor to the phenotype in individuals with EPP. Erythropoietic...

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News  21 results

July 2021 - What's the diagnosis?
https://www.mdedge.com/gihepnews/article/242413/mixed-topics/july-2021-whats-diagnosis
Luke J. Nayak, MD, Arjun R. Sondhi, MD et. al.

Jun 30th, 2021 - Answer: Erythropoietic protoporphyria. Figure B demonstrated massive cholestasis with brown deposits that represented protoporphyrin precipitates, which plugged the bile ducts and led to a cholestatic pattern of liver injury.

Photoprotection Recommended for People of Color
https://www.medscape.com/viewarticle/951252

May 17th, 2021 - Dermatologists and other clinicians should advise their patients with skin of color to practice sensible sun protection, including wearing protective clothing, staying in the shade when outdoors, and applying a tinted sunscreen with an SPF of 30 o...

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 ...

Novel oral drug improves sunlight tolerance in patients with erythropoietic protoporphyria
https://www.mdedge.com/dermatology/article/227395/rare-diseases/novel-oral-drug-improves-sunlight-tolerance-patients
Bruce Jancin

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.

Depressed Shiny Scars and Crusted Erosions
https://www.mdedge.com/dermatology/article/227045/dermatopathology/depressed-shiny-scars-and-crusted-erosions
Christina Dai, MD, Alison E. Seline, MD et. al.

Aug 16th, 2020 - The Diagnosis: Erythropoietic Protoporphyria Erythropoietic protoporphyria (EPP) is an autosomal-recessive photodermatosis that results from loss of activity of ferrochelatase, the last enzyme in the heme biosynthetic pathway. 1 Erythropoietic prot.

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