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16-04-2024 | Amyloidosis | Original Article

Long-term treatment of hereditary transthyretin amyloidosis with patisiran: multicentre, real-world experience in Italy

Authors: Luca Gentile, Anna Mazzeo, Chiara Briani, Silvia Casagrande, Marcella De Luca, Gian Maria Fabrizi, Christian Gagliardi, Chiara Gemelli, Francesca Forcina, Marina Grandis, Valeria Guglielmino, Giacomo Iabichella, Luca Leonardi, Alessandro Lozza, Fiore Manganelli, Roberta Mussinelli, Filomena My, Giuseppe Occhipinti, Silvia Fenu, Massimo Russo, Angela Romano, Alessandro Salvalaggio, Matteo Tagliapietra, Stefano Tozza, Giovanni Palladini, Laura Obici, Marco Luigetti

Published in: Neurological Sciences

Abstract

Background

Hereditary transthyretin (ATTRv, v for variant) amyloidosis with polyneuropathy is a rare disease caused by mutations in the transthyretin gene. In ATTRv amyloidosis, multisystem extracellular deposits of amyloid cause tissue and organ dysfunction. Patisiran is a small interfering RNA molecule drug that reduces circulating levels of mutant and wild-type TTR proteins. Prior to its regulatory approval, patisiran was available in Italy through a compassionate use programme (CUP). The aim of this study was to analyse the long-term outcomes of patients who entered into the CUP.

Methods

This was a multicentre, observational, retrospective study of patients with ATTRv amyloidosis treated with patisiran. The analysis included change from baseline to 12, 24, 36 and 48 months in familial amyloid polyneuropathy (FAP) stage, polyneuropathy disability (PND) class, neuropathy impairment score (NIS), modified body mass index (mBMI), Compound Autonomic Dysfunction Test (CADT), Karnofsky Performance Status (KPS) scale and Norfolk Quality of Life–Diabetic Neuropathy (QoL-DN) questionnaire. Safety data were also analysed.

Results

Forty patients from 11 Italian centres were enrolled: 23 in FAP 1 (6 in PND 1 and 17 in PND 2) and 17 in FAP 2 (8 in PND 3a and 9 in PND 3b) stage. In this population, the mean NIS at baseline was 71.4 (± 27.8); mBMI, 917.1 (± 207) kg/m²; KPS, 67.1 (± 14.0); Norfolk QoL-DN, 62.2 (± 25.2); and CADT, 13.2 (± 3.3). Statistical analysis showed few significant differences from baseline denoting disease stability. No new safety signals emerged.

Conclusions

Patisiran largely stabilised disease in patients with ATTRv amyloidosis.

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Title: Long-term treatment of hereditary transthyretin amyloidosis with patisiran: multicentre, real-world experience in Italy
Authors: Luca Gentile
Anna Mazzeo
Chiara Briani
Silvia Casagrande
Marcella De Luca
Gian Maria Fabrizi
Christian Gagliardi
Chiara Gemelli
Francesca Forcina
Marina Grandis
Valeria Guglielmino
Giacomo Iabichella
Luca Leonardi
Alessandro Lozza
Fiore Manganelli
Roberta Mussinelli
Filomena My
Giuseppe Occhipinti
Silvia Fenu
Massimo Russo
Angela Romano
Alessandro Salvalaggio
Matteo Tagliapietra
Stefano Tozza
Giovanni Palladini
Laura Obici
Marco Luigetti
Publication date: 16-04-2024
Publisher: Springer International Publishing
Keywords: Amyloidosis
Polyneuropathy
Published in: Neurological Sciences
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-024-07494-9

At a glance: The STEP trials

Springer Medicine

Long-term treatment of hereditary transthyretin amyloidosis with patisiran: multicentre, real-world experience in Italy

Abstract

Background

Methods

Results

Conclusions

At a glance: The STEP trials

Springer Medicine

Abstract

Background

Methods

Results

Conclusions

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