Phase I First-in-Humans Trial of ALN-TTRsc, a Novel RNA Interference Therapeutic for the Treatment of Familial Amyloidotic Cardiomyopathy (FAC)

Abstract

Transthyretin (TTR) cardiac amyloidosis is caused by the deposition of liver-derived mutant and/or wild-type TTR in the myocardium, leading to heart failure and death. The hereditary form, known as familial amyloidotic cardiomyopathy (FAC), is most frequently associated with the Val122Ile mutation in older African-American and Afro-Caribbean males and is estimated to affect at least 40,000 people worldwide. Treatment options are limited, and include medical management of heart failure symptoms, as well as heart transplantation in a small number of patients young enough to undergo this procedure.