Dicerna Pharmaceuticals, a company based in Cambridge, MA, announced that it has received Orphan Drug Designation from the FDA for its DCR-PH1 for the treatment of primary hyperoxaluria type 1 (PH1).  PH1 is a rare genetic disorder caused by mutations in the AGXT gene.  AGXT gene encodes a liver enzyme, alanine-glyoxylate aminotransferase (AGT), responsible for converting glyoxylate to the amino acid glycine.  The deleterious mutation in AGXT gene in PH1 patients causes shortage of functional AGT enzyme resulting in overproduction of glyoxylate, which is converted to oxalate leading to hyperoxaluria and severe kidney damages.  Currently, there are no approved therapies for this rare disease.  DCR-PH1 is short-interfering RNA engineered to target and destroy HAO1 (hydroxyacid oxidase) mRNA. HAO1 encodes glycolate oxidase responsible for generating oxalate and is implicated in the pathogenesis of PH1.  The therapeutic effects of DCR-PH1 have been demonstrated in preclinical studies supporting its potential efficacy treating PH1 patients.


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