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Beginning on Feb. 29, Rare Disease Day, chapters from notable scientific books and clinical review articles covering rare disorders will be available free-of-charge from Elsevier. The offer runs through April 30, and aims to supports work by researchers and clinicians into a better understanding of and treatments for rare diseases, as well…

Starting a 501(c)(3) tax-exempt nonprofit isn’t easy, but the National Organization for Rare Disorders gave a few tips for those  looking to begin the complex process in its Feb. 20 webinar.  William Whitman…

An abundance of events are afoot around the world to mark Rare Disease Day 2020 on Feb. 29. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…

Patients with acute intermittent porphyria (AIP) who take hemin as preventive therapy use fewer healthcare resources than those who take the medicine for acute attacks, according to a study based on U.S. real-world data. The study, “Real-world annualized healthcare utilization and expenditures among insured US…

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…