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…
The approved antifungal Ciclopirox is a potential therapy to stabilize and enhance the function of the uroporphyrinogen III synthase, the enzyme whose defective activity causes congenital erythropoietic porphyria (CEP). This is one example of how therapies already approved for one disorder can be repurposed for other diseases. The study, “…
Patients with abdominal pain, seizures and brain imaging indication of posterior reversible encephalopathy syndrome (PRES) could have acute intermittent porphyria (AIP), according to two new case reports and a literature review. The study, “Acute intermittent porphyria presenting with seizures and posterior reversible encephalopathy syndrome: Two case reports and…
Although progress has been made, more research is needed to develop effective therapeutic options for cutaneous porphyria, researchers said in a recent editorial, highlighting the latest advancements in the understanding of the disease, as well as possible pharmacological and non-pharmacological treatments. The editorial, “Shedding light on…
A Phase 3 clinical trial evaluating the effects of givosiran, an investigational therapy for acute hepatic porphyria (AHP), has completed patient enrollment, Alnylam Pharmaceuticals announced. The trial (NCT03338816), called ENVISION, enrolled a total of 94 AHP patients at 36 sites in 18 countries, ahead of schedule and surpassing the…
A new case report illustrates common misdiagnosis given, and lack of awareness among clinicians, that may cause severe complications to patients with acute intermittent porphyria (AIP). The study, “Many pitfalls in diagnosis of acute intermittent porphyria: a case report,” appeared in the journal BMC Research…
Physicians in Canada have reported the case of report of a 4-year-old boy whose delayed — and severe —reaction to sunlight led to a diagnosis of erythropoietic protoporphyria (EPP). The case was described in the study “Delayed photosensitivity in a child with erythropoietic protoporphyria: a case…
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