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Significant 2019 Research Study Recently Published

A significant 2019 research study recently published in the New England Journal of Medicine reports on a Phase 1 trial of an RNA interference therapy for acute intermittent porphyria. This disorder resulting in neurovisceral attacks arises from the induction of a key enzyme in heme biosynthesis, delta aminolevulinic acid synthase 1, in which a neurotoxic intermediate accumulates. In the trial, patients with the disorder were treated with once monthly injections of givosiran, the RNA interference therapeutic agent, which led to a reduction in ALAS1 levels and the neurotoxic intermediate. Treated patients had a reduced attack rate compared to placebo treatment. The trial was funded by Alnylam Pharmaceutical and was supported by University of Utah scientists Drs. John Phillips and Charles Parker in the Division of Hematology and Hematologic Malignancies, two experts in porphyrias.