Givlaari (givosiran) safely led to a complete resolution of annual attacks in people with acute hepatic porphyria (AHP), according to real-world data from a case series study in Italy. Long-term treatment also led to sustained reductions in key markers of AHP, along with gains in physical function. A trend for…
Scenesse (afamelanotide) increases the time people with erythropoietic protoporphyria (EPP) or X-linked protoporphyria (XLP), two types of porphyria, can spend in the sun without pain, which may help improve their quality of life, a study has found. The study, “Afamelanotide for Treatment of the Protoporphyrias: Impact on…
A study in Germany found that people with acute porphyria had significant healthcare needs and a higher number of comorbidities (other medical conditions) than the country’s general publication, resulting in increased use of the healthcare system. The findings “highlight the need for healthcare strategies and policies tailored to the…
Children with erythropoietic protoporphyria (EPP) — who have severe skin hypersensitivity to sunlight — experience “markedly reduced” physical and social quality of life compared with healthy youngsters, and even relative to adults with the condition, according to a study done in the Netherlands and Belgium. “Ensuring treatment availability for…
Blood levels of neurofilament light (NfL), a marker of nerve cell damage, are 68 times higher during an acute attack in people with acute hepatic porphyria (AHP) than the levels seen in healthy adults, a recent study reported. NfL levels were elevated in patients with sporadic or recurrent porphyria…
A new artificial intelligence (AI) algorithm may help reduce the time it takes to diagnose acute hepatic porphyria (AHP) and other rare diseases. That’s according to a study reporting that models using the AI algorithm “could identify 71% of [AHP] cases earlier than their…
Oral iron supplements may help people with erythropoietic protoporphyria (EPP) build back their iron reserves and increase the levels of hemoglobin — the iron-containing protein that carries oxygen in red blood cells — a small study in Denmark suggests. However, even when taken at small doses over a short…
A European Medicines Agency (EMA) committee has recommended that Scenesse (afamelanotide) be designated an orphan drug for the treatment of light sensitivity in people with variegate porphyria (VP). The implantable medication by Clinuvel is approved in the U.S. and European Union (EU) to treat people…
A rare mutation in the HFE gene, called H63D, was found to be the cause of hereditary hemochromatosis, a condition marked by iron overload, that ultimately led to porphyria cutanea tarda (PCT) in a 21-year-old man in the U.S., a case report shows. This case demonstrates the occurrence of…
Heavy alcohol consumption and hereditary hemochromatosis, a genetic disorder characterized by iron overload, are the leading risk factors for porphyria cutanea tarda (PCT), the most common form of porphyria, according to a retrospective 35-year follow-up study conducted in Scotland. Disease remission was more commonly achieved by patients who had…
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