View in EDS HTML Full Text PDF Full Text

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

Saved in:
Bibliographic Details
Title: Long-term treatment of hereditary transthyretin amyloidosis with patisiran: multicentre, real-world experience in Italy.
Authors: Gentile, Luca (AUTHOR), Mazzeo, Anna (AUTHOR), Briani, Chiara (AUTHOR), Casagrande, Silvia (AUTHOR), De Luca, Marcella (AUTHOR), Fabrizi, Gian Maria (AUTHOR), Gagliardi, Christian (AUTHOR), Gemelli, Chiara (AUTHOR), Forcina, Francesca (AUTHOR), Grandis, Marina (AUTHOR), Guglielmino, Valeria (AUTHOR), Iabichella, Giacomo (AUTHOR), Leonardi, Luca (AUTHOR), Lozza, Alessandro (AUTHOR), Manganelli, Fiore (AUTHOR), Mussinelli, Roberta (AUTHOR), My, Filomena (AUTHOR), Occhipinti, Giuseppe (AUTHOR), Fenu, Silvia (AUTHOR), Russo, Massimo (AUTHOR)
Source: Neurological Sciences. Sep2024, Vol. 45 Issue 9, p4563-4571. 9p.
Subjects: Karnofsky Performance Status, Small interfering RNA, Body mass index, Amyloid plaque, Dysautonomia
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. [ABSTRACT FROM AUTHOR]
Copyright of Neurological Sciences is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
Full text is not displayed to guests.
FullText Links:
  – Type: pdflink
Text:
  Availability: 1
Header DbId: pbh
DbLabel: Psychology and Behavioral Sciences Collection
An: 178877894
AccessLevel: 6
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Long-term treatment of hereditary transthyretin amyloidosis with patisiran: multicentre, real-world experience in Italy.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AR" term="%22Gentile%2C+Luca%22">Gentile, Luca</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Mazzeo%2C+Anna%22">Mazzeo, Anna</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Briani%2C+Chiara%22">Briani, Chiara</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Casagrande%2C+Silvia%22">Casagrande, Silvia</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22De+Luca%2C+Marcella%22">De Luca, Marcella</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Fabrizi%2C+Gian+Maria%22">Fabrizi, Gian Maria</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Gagliardi%2C+Christian%22">Gagliardi, Christian</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Gemelli%2C+Chiara%22">Gemelli, Chiara</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Forcina%2C+Francesca%22">Forcina, Francesca</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Grandis%2C+Marina%22">Grandis, Marina</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Guglielmino%2C+Valeria%22">Guglielmino, Valeria</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Iabichella%2C+Giacomo%22">Iabichella, Giacomo</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Leonardi%2C+Luca%22">Leonardi, Luca</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Lozza%2C+Alessandro%22">Lozza, Alessandro</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Manganelli%2C+Fiore%22">Manganelli, Fiore</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Mussinelli%2C+Roberta%22">Mussinelli, Roberta</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22My%2C+Filomena%22">My, Filomena</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Occhipinti%2C+Giuseppe%22">Occhipinti, Giuseppe</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Fenu%2C+Silvia%22">Fenu, Silvia</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Russo%2C+Massimo%22">Russo, Massimo</searchLink> (AUTHOR)
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22Neurological+Sciences%22">Neurological Sciences</searchLink>. Sep2024, Vol. 45 Issue 9, p4563-4571. 9p.
– Name: Subject
  Label: Subjects
  Group: Su
  Data: <searchLink fieldCode="DE" term="%22Karnofsky+Performance+Status%22">Karnofsky Performance Status</searchLink><br /><searchLink fieldCode="DE" term="%22Small+interfering+RNA%22">Small interfering RNA</searchLink><br /><searchLink fieldCode="DE" term="%22Body+mass+index%22">Body mass index</searchLink><br /><searchLink fieldCode="DE" term="%22Amyloid+plaque%22">Amyloid plaque</searchLink><br /><searchLink fieldCode="DE" term="%22Dysautonomia%22">Dysautonomia</searchLink>
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: 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. [ABSTRACT FROM AUTHOR]
– Name: AbstractSuppliedCopyright
  Label:
  Group: Ab
  Data: <i>Copyright of Neurological Sciences is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=pbh&AN=178877894
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1007/s10072-024-07494-9
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 9
        StartPage: 4563
    Subjects:
      – SubjectFull: Karnofsky Performance Status
        Type: general
      – SubjectFull: Small interfering RNA
        Type: general
      – SubjectFull: Body mass index
        Type: general
      – SubjectFull: Amyloid plaque
        Type: general
      – SubjectFull: Dysautonomia
        Type: general
    Titles:
      – TitleFull: Long-term treatment of hereditary transthyretin amyloidosis with patisiran: multicentre, real-world experience in Italy.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Gentile, Luca
      – PersonEntity:
          Name:
            NameFull: Mazzeo, Anna
      – PersonEntity:
          Name:
            NameFull: Briani, Chiara
      – PersonEntity:
          Name:
            NameFull: Casagrande, Silvia
      – PersonEntity:
          Name:
            NameFull: De Luca, Marcella
      – PersonEntity:
          Name:
            NameFull: Fabrizi, Gian Maria
      – PersonEntity:
          Name:
            NameFull: Gagliardi, Christian
      – PersonEntity:
          Name:
            NameFull: Gemelli, Chiara
      – PersonEntity:
          Name:
            NameFull: Forcina, Francesca
      – PersonEntity:
          Name:
            NameFull: Grandis, Marina
      – PersonEntity:
          Name:
            NameFull: Guglielmino, Valeria
      – PersonEntity:
          Name:
            NameFull: Iabichella, Giacomo
      – PersonEntity:
          Name:
            NameFull: Leonardi, Luca
      – PersonEntity:
          Name:
            NameFull: Lozza, Alessandro
      – PersonEntity:
          Name:
            NameFull: Manganelli, Fiore
      – PersonEntity:
          Name:
            NameFull: Mussinelli, Roberta
      – PersonEntity:
          Name:
            NameFull: My, Filomena
      – PersonEntity:
          Name:
            NameFull: Occhipinti, Giuseppe
      – PersonEntity:
          Name:
            NameFull: Fenu, Silvia
      – PersonEntity:
          Name:
            NameFull: Russo, Massimo
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 09
              Text: Sep2024
              Type: published
              Y: 2024
          Identifiers:
            – Type: issn-print
              Value: 15901874
          Numbering:
            – Type: volume
              Value: 45
            – Type: issue
              Value: 9
          Titles:
            – TitleFull: Neurological Sciences
              Type: main
ResultId 1