Patricia Inácio, PhD, science writer —

Genetic testing is vital to confirming the diagnosis of acute hepatic porphyria (AHP) in symptomatic patients, and identifying family members who carry mutations but have no symptoms, a study by Mount Sinai researchers — that found family mutations in 50 percent of the asymptomatic people tested — reports. The study, based on…

The approved antifungal Ciclopirox is a potential therapy to stabilize and enhance the function of the uroporphyrinogen III synthase, the enzyme whose defective activity causes congenital erythropoietic porphyria (CEP). This is one example of how therapies already approved for one disorder can be repurposed for other diseases. The study, “…

Acute intermittent porphyria (AIP) patients who have recurrent attacks are more likely to be sicker and unemployed, yet face higher medical costs than patients with occasional attacks, researchers in The Netherlands report. Their study, “Medical and financial burden of acute intermittent porphyria,” was published in the Journal of…

The U.S. Food and Drug Administration (FDA) has granted orphan drug designation to AMP-L2.7.D7 (ciclopirox) for treatment of Congenital Erythropoietic Porphyria (also known as Gunther’s disease). AMP-L2.7.D7, developed by Atlas Molecular Pharma, is a pharmacological chaperone — a molecule that binds to uroporphyrinogen III synthase, the…