Evidence map›Paper›PMID 39954098›Full record

Observational studyJournal of neurology2025

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

Vincenzo Di Stefano, Pietro Guaraldi, Angela Romano, Giovanni Antonini, Alessandro Barilaro, Chiara Briani, Marco Burattini, Ilaria Cani, Giulia Carlini, Marco Ceccanti and 34 more

Abstract readMulticenter StudyObservational Study
PubMed Full text at PMC Publisher
In one paragraph

Observational study in Journal of neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

7 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Trial
  3. Article
  4. Article
  5. Article
  6. Article
  7. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

44 authors.

Vincenzo Di StefanoDepartment of Biomedicine, Neuroscience and Advanced Diagnostics (BIND), University of Palermo, Palermo, Italy.
Pietro GuaraldiIRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.
Angela RomanoDipartimento di Neuroscienze, Organi di Senso e Torace, UOC Neurologia, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Largo Agostino Gemelli, 8, 00168, Rome, Italy.
Giovanni AntoniniDepartment of Neurology Mental Health and Sensory Organs (NESMOS), Faculty of Medicine and Psychology, 'Sapienza' University of Rome and UniCamillus-Saint Camillus International University of Health Sciences, Rome, Italy.
Alessandro BarilaroAOU Careggi and Department of Neurosciences, Drug and Child Health, University of Florence, Florence, Italy.
Chiara BrianiNeurology Unit, Department of Neuroscience, University of Padua, Padua, Italy.
Marco BurattiniNeurology Unit, Ospedale Santa Croce di Fano, Fano, Italy.
Ilaria CaniIRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.
Giulia CarliniNeurological Clinic, Department of Experimental and Clinical Medicine, Marche Polytechnic University, Ancona, Italy.
Marco CeccantiDepartment of Human Neuroscience, Sapienza University of Rome, Rome, Italy.
Vittoria CianciNeurology Unit, Great Metropolitan Hospital "Bianchi Melacrino Morelli", Reggio Calabria, Italy.
Pietro CortelliIRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.
Marco Currò DossiDepartment of Neurology, Infermi Hospital, Rimini, Italy.
Daniela Di LisiDivision of Cardiology, University Hospital Paolo Giaccone, Palermo, Italy.
Antonio Di MuzioDepartment of Neuroscience, Imaging and Clinical Sciences, "G. D'Annunzio" University, Chieti, Italy.
Yuri FalzoneDivision of Neuroscience, Department of Neurology, Institute of Experimental Neurology, San Raffaele Scientific Institute, Milan, Italy.
Massimiliano FilostoDepartment of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
Sabrina GasverdeASL TO4, Ciriè, Italy.
Chiara GemelliIRCCS Ospedale Policlinico San Martino, Genoa, Italy.
Luca GentileDepartment of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
Mariangela GogliaNeuromuscular Diseases Unit, Department of Systems Medicine, Tor Vergata University of Rome, Rome, Italy.
Luca LeonardiNeuromuscular and Rare Disease Centre, Neurology Unit, Sant'Andrea Hospital, Rome, Italy.
Simone LonghiCardiology Unit, Cardiac Thoracic and Vascular Department, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
Antonio LottiAOU Careggi and Department of Neurosciences, Drug and Child Health, University of Florence, Florence, Italy.
Fiore ManganelliDepartment of Neuroscience, Reproductive and Odontostomatological Science, University of Naples 'Federico II', Naples, Italy.
Anna MazzeoDepartment of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
Giammarco MilellaNeurology Unit, Department of Basic Medical Sciences, Neurosciences and Sense Organs, University of Bari Aldo Moro, Bari, Italy.
Giuseppina NovoDivision of Cardiology, University Hospital Paolo Giaccone, Palermo, Italy.
Silvia FenuS.C. Malattie Neurologiche Rare, Dipartimento di Neuroscienze Cliniche, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Giovanni PalumboDepartment of Neuroscience, Reproductive and Odontostomatological Science, University of Naples 'Federico II', Naples, Italy.
Cristina PetrelliNeurology Unit, AV3, ASUR Marche, Macerata, Italy.
Loris PoliUnit of Neurology, ASST Spedali Civili, 25100, Brescia, Italy.
Luca Guglielmo PradottoDepartment of Neuroscience "Rita Levi Montalcini", University of Turin, Turin, Italy.
Massimo RussoDepartment of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
Alessandro SalvalaggioNeurology Unit, Department of Neuroscience, University of Padua, Padua, Italy.
Maria Ausilia SciarroneDepartment of Neuroscience, Università Cattolica del Sacro Cuore, Rome, Italy.
Luigi SellittiIRCCS Istituto Auxologico Italiano, Piancavallo (Vb), Milan, Italy.
Matteo TagliapietraDepartment of Neuroscience, Biomedicina e Movimento, Università di Verona, Verona, Italy.
Stefano TozzaDepartment of Neuroscience, Reproductive and Odontostomatological Science, University of Naples 'Federico II', Naples, Italy.
Mara TurriDipartimento di Neurologia/Stroke Unit, Ospedale di Bolzano, Bolzano, Italy.
Lorenzo VerrielloNeurology Unit, Department of Neurosciences, University Hospital Santa Maria della Misericordia, Udine, Italy.
Francesca VitaliDepartment of Neuroscience, Università Cattolica del Sacro Cuore, Rome, Italy.
Filippo Brighina *Department of Biomedicine, Neuroscience and Advanced Diagnostics (BIND), University of Palermo, Palermo, Italy.
Marco Luigetti *Dipartimento di Neuroscienze, Organi di Senso e Torace, UOC Neurologia, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Largo Agostino Gemelli, 8, 00168, Rome, Italy. mluigetti@gmail.com.ORCID http://orcid.org/0000-0001-7539-505X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundHereditary 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.

methodsWe enrolled genetically confirmed ATTRv-PN patients from 29 specialized Italian centers. All subjects underwent neurological assessments, including familial amyloid polyneuropathy (FAP) staging, the Neuropathy Impairment Score (NIS), quality-of-life assessment using the Norfolk Quality of Life-Diabetic Neuropathy (Norfolk QOL-DN) questionnaire, and the Compound Autonomic Dysfunction Test (CADT). Additional assessments included baseline and follow-up measures of serum NT-proBNP and interventricular septal thickness.

resultsA total of 181 ATTRv patients (69% male) were enrolled. Neurological onset was reported in 60.2% of cases. At baseline, 83.4% of patients exhibited multisystemic involvement, while only 16.6% presented isolated polyneuropathy. For approximately 70% of patients, patisiran was the first treatment; the remainder transitioned from tafamidis or inotersen. Following treatment, most patients demonstrated stabilization of neuropathy progression, regardless of baseline disease severity or genotype. The treatment was well-tolerated, with 90% of patients reporting no adverse events.

conclusionPatisiran can be considered a valid therapeutic option for the management of patients with ATTRv amyloidosis. Considering its mechanism of action, similar outcomes could also be expected with the wider utilization of newly approved gene silencers for ATTRv therapy, such as vutrisiran.

Indexed as

Amyloid Neuropathies, FamilialPolyneuropathiesRNA, Small InterferingAdultAgedFemaleHumansItalyMaleMiddle AgedPrealbuminQuality of LifeTreatment OutcomepatisiranPrealbuminRNA, Small InterferingATTRv-PNHereditary transthyretin amyloidosisMulticenter studyPatisiranReal-world dataRNA interference

Identifiers

PMID39954098
PMCPMC11829936

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