Cosentyx (secukinumab) — a treatment approved for a skin condition called psoriasis — successfully treated both that disorder and porphyria cutanea tarda (PCT), the most common form of porphyria, in a 65-year-old woman, a case study shows. Subsequently stopping Cosentyx, which works by blocking the pro-inflammatory molecule IL-17, led…
News
Clinuvel has been awarded a five-year contract with the U.S. Department of Veterans Affairs (VA) to supply Scenesse (afamelanotide) for the treatment of adults with erythropoietic protoporphyria (EPP). The implantable medication has been listed on the Federal Supply Schedule, a government-wide contract with commercial companies to provide…
Years of monthly treatment with Givlaari (givosiran) continued to be associated with sustained reductions in acute disease attacks and on-demand hemin use among people with active acute hepatic porphyria (AHP) in a Phase 3 clinical trial. Final, three-year results from the ENVISION study (NCT03338816) and its open-label…
An infant in Brazil who developed severe skin blistering after receiving a light-based therapy for jaundice, or yellowing of the skin, was found to have congenital erythropoietic porphyria (CEP) after a thorough diagnostic workup. “In publishing this case report, we aimed to pediatricians’ knowledge regarding [CEP],” the researchers wrote.
Acute intermittent porphyria (AIP) doesn’t appear to be strongly associated with Takotsubo cardiomyopathy, a temporary condition marked by stress-induced heart muscle weakness, a study shows. Despite the potential connection between the two conditions, the incidence of the heart condition triggered by AIP is estimated to be one in 10,000.
A 77-year-old man with porphyria cutanea tarda (PCT), the most common form of porphyria, was diagnosed with adult-onset hereditary hemochromatosis, a condition marked by iron overload that can be associated with PCT. He was successfully treated with antibiotic skin creams and regular therapeutic blood letting (phlebotomy) to remove excess…
A recent case report highlights the extremely rare occurrence of two diseases — acute intermittent porphyria (AIP) and systemic lupus erythematosus (SLE), an autoimmune disease — in a young woman who was eventually diagnosed through lab work, biopsies, and genetic testing. The report adds to the limited body…
A screening program at emergency departments may help to more efficiently diagnose acute forms of porphyria, according to a recent study. “Screening for [acute porphyrias] in the [emergency department] is feasible and should be considered in all [emergency department] patients with (especially recurrent) abdominal pain of unclear origin,” the…
Treatment with bitopertin, an oral therapy from Disc Medicine, led to increased sunlight tolerance and improved quality of life for people with erythropoietic protoporphyria (EPP) in the Phase 2 BEACON trial, preliminary data show. Levels of protoporphyrin IX (PPIX), the molecule that builds up to toxic levels in EPP…
Treatment with the implantable medication Scenesse (afamelanotide), which is approved to help reduce light intolerance in people with erythropoietic protoporphyria (EPP), also may help to reduce liver damage associated with the disease. That finding, in the study “Afamelanotide Is Associated with Dose-Dependent Protective Effect from Liver…
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