A violinist with vasculitis, two Texas politicians and a pharmaceutical company whose marijuana-derived therapy helps kids with Dravet syndrome were among winners of the 2019 Rare Impact Awards. Officials of the National Organization for Rare Disorders (NORD) presented the awards during a June 22 dinner attended by…
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Europe’s umbrella organization for 800 rare disease associations has developed a sweeping initiative to help the continent’s 30 million rare disease patients and their caregivers learn about their conditions, find assistance and receive treatment. Eurordis-Rare Diseases Europe hopes to improve the current piecemeal treatment and support program with a holistic,…
People with rare diseases know that the right government policies can make a big difference in the quality of their own lives, and those of their caregivers. But most lawmakers aren’t experts in even one well-known disease — let alone the world’s estimated 7,000 rare disorders. So how does the…
Non-invasive bioenergetic tests may be useful biomarkers to assess disease activity in patients with different types of porphyria, a study says. The study, “Feasibility of cellular bioenergetics as a biomarker in porphyria patients,” was published in Molecular Genetics and Metabolism Reports. Porphyrias are a group of genetic…
Alnylam Pharmaceuticals has completed its submission of a new drug application (NDA) to the U.S. Food and Drug Administration (FDA), seeking the approval of givosiran for the treatment of acute hepatic porphyria (AHP). Givosiran, also known as ALN-AS1, is an investigational RNA-based therapy designed to…
Patients with acute hepatic porphyria (AHP) who suffer from recurrent attacks also experience significant chronic symptoms between attacks, according to results of a new study. The study, “Disease Manifestations of Patients with Recurrent Acute Hepatic Porphyria (AHP) and Daily Life Impacts in EXPLORE International, Prospective, Natural History Study,” was…
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Acute Hepatic Porphyria Patients Have Defects in Cellular Energy Production, Pilot Study Suggests
People with acute hepatic porphyria (AHP), with moderate to severe symptoms, have a deficiency in mitochondrial function — meaning that their cells’ “power plants” don’t work properly, according to a pilot study. The study titled, “Pilot study of mitochondrial bioenergetics in subjects with acute porphyrias,” appeared…
With 250 rare diseases newly identified every year, scientists can barely keep up — even as the healthcare system fails millions of Americans whose rare diseases have already been diagnosed. That’s the warning from Christopher P. Austin, MD, director of the National Center for Advancing Translational Studies (NCATS) at…
Treatment with investigational RNA-based therapy givosiran can safely reduce the annual incidence of acute hepatic porphyria (AHP) attacks, according to final results from a Phase 3 clinical trial. These positive results from the ENVISION trial are intended to support the application for regulatory approval that givosiran’s manufacturer Alnylam Pharmaceuticals is planning…
Patients with porphyria cutanea tarda have higher risks of developing liver and other types of cancer and of dying prematurely compared to individuals from the general population, a study says. The findings of the study, “Porphyria cutanea tarda increases risk of hepatocellular carcinoma and premature death: a nationwide…
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