Pubblicazioni

Autori:

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

Titolo:

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

Anno:

2024

Tipologia prodotto:

Articolo in Rivista

Tipologia ANVUR:

Articolo su rivista

Lingua:

Inglese

Formato:

A Stampa

Referee:

Sì

Nome rivista:

NEUROLOGICAL SCIENCES

ISSN Rivista:

1590-1874

N° Volume:

45

Numero o Fascicolo:

9

Intervallo pagine:

4563-4571

Parole chiave:

Compassionate use programme; Hereditary transthyretin amyloidosis; Patisiran; Real-world

Breve descrizione dei contenuti:

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.

Pagina Web:

https://doi.org/10.1007/s10072-024-07494-9

Id prodotto:

138999

Handle IRIS:

11562/1124607

ultima modifica:

12 ottobre 2024

Citazione bibliografica:

Gentile, Luca; Mazzeo, Anna; Briani, Chiara; Casagrande, Silvia; De Luca, Marcella; Fabrizi, Gian Maria; Gagliardi, Christian; Gemelli, Chiara; Forcina, Francesca; Grandis, Marina; Guglielmino, Valeria; Iabichella, Giacomo; Leonardi, Luca; Lozza, Alessandro; Manganelli, Fiore; Mussinelli, Roberta; My, Filomena; Occhipinti, Giuseppe; Fenu, Silvia; Russo, Massimo; Romano, Angela; Salvalaggio, Alessandro; Tagliapietra, Matteo; Tozza, Stefano; Palladini, Giovanni; Obici, Laura; Luigetti, Marco, Long-term treatment of hereditary transthyretin amyloidosis with patisiran: multicentre, real-world experience in Italy «NEUROLOGICAL SCIENCES» , vol. 45 , n. 9 , 2024 , pp. 4563-4571

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