News

The U.S. Food and Drug Administration (FDA), a vast government bureaucracy, employs about 17,500 people and had a budget of $5.7 billion in 2019. Yet even with its enormous resources, the FDA these days relies more and more on patients to…

The gleaming new Dutch headquarters of the European Medicines Agency (EMA), fronting Domenico Scarlattilaan in Amsterdam’s suburban Zuidas business district, finally opened for business last month — just over two years after the European Union decided to relocate the EMA to the Netherlands in the wake of Brexit.

The Committee for Medicinal Products for Human Use (CHMP), a branch of the European Medicines Agency (EMA), has recommended approval of Alnylam Pharmaceuticals’ givosiran for treating acute hepatic porphyria (AHP) in adults and adolescents 12 and older. If approved by the European Commission, givosiran will…

Patients with congenital erythropoietic porphyria (CEP) should have a liver biopsy to assess the degree of liver damage before undergoing a bone marrow transplant, a study suggests. The study, “Bone Marrow Transplantation in Congenital Erythropoietic Porphyria: Sustained Efficacy but Unexpected Liver Dysfunction,” was published in the…

Regular removal of blood, through a procedure called phlebotomy, reduced symptoms and porphyrin levels in a person with congenital erythropoietic porphyria (CEP), likely by reducing iron levels in the body, according to recent case report that recommends targeting iron levels as a strategy to manage the disease.

Abnormal non-gastrointestinal symptoms in patients with Crohn’s disease may indicate the presence of acute intermittent porphyria, a case report of a 23-year-old patient shows. The study, “Acute Intermittent Porphyria – an Unexpected Association in a Patient with Newly Diagnosed Crohn’s Disease,” was published in the Journal of…

A tissue-specific mechanism was found to take part in the regulation of iron levels in the body, a discovery that may have implications for new therapies for diseases such as porphyria, a study in fruit flies suggests. The study, “Glycogen branching enzyme controls cellular iron homeostasis via Iron…

In an unusual case, a 16-year-old girl in India was diagnosed with acute intermittent porphyria (AIP) after radiological findings were suggestive of posterior reversible encephalopathy syndrome (PRES). The combination of abdominal pain with altered neurological and psychiatric status should alert clinicians to the possibility of porphyria, they said. The case…

Alnylam Pharmaceuticals has tapped PANTHERx Rare Pharmacy to be a limited distribution partner for its newly approved therapy Givlaari (givosiran) to treat acute hepatic porphyria (AHP). The medication was approved in November by the U.S. Food and Drug Administration (FDA) for adults with AHP, a…

With so much recent publicity surrounding gene therapy, it’s no surprise that the topic was a major focus of the recent 2019 NORD Rare Diseases & Orphan Products Breakthrough Summit. From diagnosis and clinical trial design to manufacturing, pricing strategies, and ethical concerns, gene therapy — both its high…