Patisiran in ATTRv amyloidosis with polyneuropathy: "PatisiranItaly" multicenter observational study.

ABSTRACT:

Background

Hereditary amyloid transthyretin amyloidosis with polyneuropathy (ATTRv-PN) is a rare, inherited, multisystemic, progressive adult-onset disease, affecting sensorimotor nerves, and various organs. It is caused by mutations in the TTR gene, leading to misfolded monomers that aggregate, forming amyloid fibrils. Patisiran is a small, double-stranded interfering RNA encapsulated in a lipid nanoparticle, designed to enter hepatocytes and selectively target TTR mRNA to reduce both variant TTR and wild-type TTR (wt). This study presents a multicenter, real-life experience of patisiran's effectiveness and safety in ATTRv-PN.

Methods

We enrolled genetically confirmed ATTRv-PN patients from 29 specialized Italian centers. All subjects underwent neurological assessments, inc

SUBMITTER: Di Stefano V 

PROVIDER: S-EPMC11829936 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature