Cash-strapped governments across the 28-member European Union are struggling to control runaway healthcare expenditures — at exactly the same time as the promise of new but expensive therapies to treat rare diseases has never been greater. That’s the paradox faced by pharmaceutical companies as well as patient advocacy groups in…
Nonconvulsive status epilepticus, a condition characterized by confusion, inability to speak, and diminished awareness, has been reported for the first time in a patient with variegate porphyria, according to a case study. The study, “Nonconvulsive status epilepticus secondary to acute Porphyria crisis,” was published in the journal,…
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…
Canadian patients who have recurrent attacks of acute intermittent porphyria (AIP) can now be treated with Recordati Rare Diseases Canada’ injectable hemin formulation, Panhematin. Health Canada has approved the use of Panhematin to reduce the production and buildup of toxic compounds in the body induced by…
Results from a Phase 1 study and an open-label extension (OLE) trial have demonstrated that givosiran can effectively reduce attack rates and the use of hemin in patients with acute hepatic porphyria. The latest results of these clinical studies were recently discussed at The Liver Meeting 2018…
Three patients with multiple fat deposits in the liver caused by alcohol abuse were diagnosed with chronic hepatic porphyria (CHP), a case report describes. In all three cases, a highly sensitive imaging technique called contrast-enhanced ultrasound (CEUS) was useful in confirming a diagnosis. The report, “Multinodular…
Alnylam Pharmaceuticals, after consulting with the U.S. Food and Drug Administration, plans to pursue full approval of its lead therapy candidate, givosiran, for the treatment of acute hepatic porphyria (AHP), rather than accelerated approval. The full approval will be based on the complete results of the ongoing…
Half a year has gone by since disgraced pharma executive Martin Shkreli was sentenced to seven years in federal prison for securities and wire fraud while heading San Diego-based Retrophin. As founder and CEO of another company (then known as Turing Pharmaceuticals), in late 2015 Shkreli bought the rights…
Interim data from the ENVISION Phase 3 trial (NCT03338816) revealed Alnylam Pharmaceuticals’ lead candidate, givosiran, can effectively reduce the levels of a key biomarker of acute hepatic porphyria compared to a placebo. As of Aug. 22, 2018, approximately 46% of the participants (43/94) had completed at least three months…
More than 700 medical experts, pharmaceutical executives, patient advocates, and others are expected to converge on Washington, D.C., next month for the 2018 NORD Rare Diseases & Orphan Products Breakthrough Summit. The Oct. 15-16 event, sponsored by the National Organization for Rare Diseases (NORD), takes place at the…
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