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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…

Investigative drug candidate givosiran significantly reduced porphyria attacks in two clinical trials, according to a recent presentation at the European Association for the Study of the Liver (EASL) 53rdAnnual International Liver Congress, in Paris, France. The presentation on the safety and efficacy data of givosiran in patients…

Credit: APF April 21-28, 2018 is Porphyria Awareness Week, and the American Porphyria Foundation (APF) is encouraging everyone to join them in raising awareness and spreading information about porphyria. Porphyria is the term used to refer to a…

A little-known government entity within the National Institutes of Health (NIH) is helping to lead U.S. efforts to speed up the development of therapies for some 7,000 rare diseases. The Office of Rare Diseases Research (ORDR), headquartered in Bethesda, Maryland, was established in 1993 within the NIH Office of the…

The diagnosis of porphyria often is delayed, which highlights the need for increased awareness among clinical physicians. A case report by researchers in the United Kingdom illustrates that point as it describes a patient with acute intermittent porphyria that, despite having all the classical clinical features, was diagnosed tardily. The…

Mitochondrial disorders are complex conditions for which few treatments are available. Now, using microscopic worms, researchers at The Children’s Hospital of Philadelphia (CHOP), are researching if existing human drugs aimed at improving metabolism and restore shortened lifespans, can open the opportunity for human clinical trials on innovative therapies for these…