Alice Melao,  —

Genetic variants linked to acute intermittent porphyria vary according to ethnicity, a systematic analysis among eight ethnic populations shows. The finding adds a new layer of knowledge that may help diagnose this rare metabolic disorder and the understanding of its underlying variability. The study, “Systematically…

Adult patients with erythropoietic protoporphyria (EPP) who live in the United States can now be treated with Scenesse (afamelanotide) to increase their tolerance to sunlight. Scenesse has been approved by the U.S. Food and Drug Administration (FDA) to treat EPP patients who have a history of phototoxic reactions…

Treatment with investigational RNA-based therapy givosiran can safely reduce the annual incidence of acute hepatic porphyria (AHP) attacks, according to final results from a Phase 3 clinical trial. These positive results from the ENVISION trial are intended to support the application for regulatory approval that givosiran’s manufacturer Alnylam Pharmaceuticals is planning…

Once-monthly injections of givosiran can safely reduce the rate of recurrent porphyria attacks by effectively reducing disease-triggering neurotoxic compounds, data from a Phase 1 clinical trial suggests. The trial findings were reported in a study, “Phase 1 Trial of an RNA Interference Therapy for Acute Intermittent…

High energy intake and insulin levels, as well as increased sugar and candy consumption, are associated with lower disease activity in acute intermittent porphyria, a small population-based study suggests. The study, “Lifestyle factors including diet and biochemical biomarkers in acute intermittent porphyria: Results from a case-control study…

Canadian patients who have recurrent attacks of acute intermittent porphyria (AIP) can now be treated with Recordati Rare Diseases Canada’ injectable hemin formulation, Panhematin. Health Canada has approved the use of Panhematin to reduce the production and buildup of toxic compounds in the body induced by…

Results from a Phase 1 study and an open-label extension (OLE) trial have demonstrated that  givosiran can effectively reduce attack rates and the use of hemin in patients with acute hepatic porphyria. The latest results of these clinical studies were recently discussed at The Liver Meeting 2018…

Interim data from the ENVISION Phase 3 trial (NCT03338816) revealed Alnylam Pharmaceuticals’ lead candidate, givosiran, can effectively reduce the levels of a key biomarker of acute hepatic porphyria compared to a placebo. As of Aug. 22, 2018, approximately 46% of the participants (43/94) had completed at least three months…

Physicians in Canada have reported the case of report of a 4-year-old boy whose delayed — and severe —reaction to sunlight led to a diagnosis of erythropoietic protoporphyria (EPP). The case was described in the study “Delayed photosensitivity in a child with erythropoietic protoporphyria: a case…

Medical researchers in India have reported an unusual case of coexisting acute intermittent porphyria (AIP) and a genetic skin disorder in a 9-year-old boy. The rare clinical case was described in the study, “A rare case of acute intermittent porphyria with ichthyosis vulgaris in a young boy,”…