Lindsey Shapiro, PhD,  science writer—

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…

The case of a young woman with recurrent abdominal pain who was diagnosed with acute intermittent porphyria (AIP) underscores the difficulties  diagnosing a rare disease that sometimes has vague and variable symptoms, said researchers in a recent case report. The woman’s menstrual cycle was a trigger for the pain…

The BEACON and AURORA Phase 2 clinical trials testing the investigational oral therapy bitopertin in people with erythropoietic porphyrias have completed enrollment, according to an update from therapy developer Disc Medicine. BEACON (ACTRN12622000799752), which began enrolling adults with erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) at sites…

A man with erythropoietic protoporphyria (EPP) and severe liver disease successfully underwent a rare, live-donor liver transplant with his wife as the donor of a portion of the organ, according to a recent case report. Special precautions, including light protection and medication adjustments, were taken due to the man’s…

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…

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…

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…

Women with acute hepatic porphyria (AHP) were at a higher risk of developing high blood pressure and diabetes during pregnancy than their healthy counterparts, and their babies were more likely to be born small, according to a Swedish study. Those with acute intermittent porphyria (AIP) — the most common…

MT-7117 (dersimelagon), an investigational oral therapy from Mitsubishi Tanabe Pharma, safely reduced sunlight sensitivity and improved quality of life in people with erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) — two types of cutaneous porphyria, which primarily affects the skin — in a Phase 2 trial. Findings from…