Publications

Authors:

Di Stefano, Vincenzo; Fava, Antonella; Gentile, Luca; Guaraldi, Pietro; Leonardi, Luca; Poli, Loris; Tagliapietra, Matteo; Vastola, Michele; Fanara, Salvatore; Ferrero, Bruno; Giorgi, Mauro; Perfetto, Federico; Russo, Massimo; Russo, Domitilla

Title:

Italian real-life experience of patients with hereditary transthyretin amyloidosis treated with Patisiran

Year:

2022

Type of item:

Articolo in Rivista

Tipologia ANVUR:

Articolo su rivista

Language:

Inglese

Format:

A Stampa

Referee:

Sì

Name of journal:

PHARMACOGENOMICS AND PERSONALIZED MEDICINE

ISSN of journal:

1178-7066

N° Volume:

15

Page numbers:

499-514

Keyword:

case reports; hereditary transthyretin amyloidosis; patisiran; real-life

Short description of contents:

Hereditary transthyretin amyloidosis (ATTRv) is a multisystemic, rare, inherited, progressive and adult-onset disease, affecting the sensorimotor nerves, heart, autonomic function and other organs. The actual scenario of pharmaceutical approaches for ATTRv amyloidosis includes five main groups: TTR stabilizers, TTR mRNA silencers, TTR fibril disruptors, inhibitor of TTR fibril seeding and gene therapy. Patisiran is a small, double-stranded interfering RNA encapsulated in a lipid nanoparticle, able to penetrate into hepatocytes, where it selectively targets TTR mRNA, reducing TTR production. We report and discuss 9 cases of different patients with ATTRv amyloidosis successfully managed with patisiran in the real clinical practice. Literature data, as well as the above presented case reports, show that this drug is effective and safe in improving both neurological and cardiovascular symptoms of ATTRv amyloidosis, and to maintain a good QoL, independently form the stage of the disease and the involved mutation. Recent studies correlated improved functional and biochemical outcomes with a regression of amyloid burden, especially at the cardiac level. Today, patisiran can be considered a valid therapeutic option for the management of patients with ATTRv amyloidosis and polyneuropathy and cardiovascular symptoms.

Web page:

https://doi.org/10.2147/pgpm.s359851

Product ID:

126975

Handle IRIS:

11562/1065575

Last Modified:

November 27, 2022

Bibliographic citation:

Di Stefano, Vincenzo; Fava, Antonella; Gentile, Luca; Guaraldi, Pietro; Leonardi, Luca; Poli, Loris; Tagliapietra, Matteo; Vastola, Michele; Fanara, Salvatore; Ferrero, Bruno; Giorgi, Mauro; Perfetto, Federico; Russo, Massimo; Russo, Domitilla, Italian real-life experience of patients with hereditary transthyretin amyloidosis treated with Patisiran «PHARMACOGENOMICS AND PERSONALIZED MEDICINE» , vol. 15 , 2022 , pp. 499-514

Consulta la scheda completa presente nel repository istituzionale della Ricerca di Ateneo