RNA Interference

In a review published in Therapeutics and Clinical Risk Management, researchers outlined the current understanding of the transthyretin amyloidosis (ATTR) disease process, diagnostic and surveillance approaches, treatment modalities, and potential future directions.

A stark 82% of assessed patients with hereditary transthyretin (ATTRv) amyloidosis exhibited at least 1 gastrointestinal symptom, warranting the need for gastroenterologists in multidisciplinary management of the disease.

Lumasiran works by inhibiting the production of oxalate.

Use of the RNA inhibitor givosiran was shown to reduce expression of delta-aminolevulinic acid synthase 1, in turn reducing the severity of acute attacks and chronic symptoms for patients with severe hepatic porphyria.

Researchers conducting a large epigenome-wide association study identified several methylation sites associated with hereditary transthyretin amyloidosis (hATTR), a rare, life-threatening disorder caused by amyloidogenic coding mutations in the TTR gene.

Drug maker Alnylam Pharmaceuticals has announced that the ILLUMINATE-A trial, a phase 3 study of lumasiran, an investigational RNA interference product targeting glycolate oxidase, met its primary end point in a study of patients with primary hyperoxaluria type 1 (PH1).

The FDA has approved a new treatment for adult patients with acute hepatic porphyria (AHP) a rare genetic disorder. Givlaari is an RNA interference therapeutic targeting aminolevulinic acid synthase 1. Simultaneously, Alnylam Pharmaceuticals announced a new framework for value-based agreements to help patients gain access to the treatment.

Data from EXPLORE, a prospective, multinational, natural history study, is used to characterize disease activity and clinical management of patients with acute hepatic porphyria (AHP) who experience recurrent attacks. The findings highlight the high unmet need for effective treatments.