Your new experience awaits. Try the new design now and help us make it even better

STUDY PROTOCOL article

Front. Neurol.

Sec. Neuromuscular Disorders and Peripheral Neuropathies

Volume 16 - 2025 | doi: 10.3389/fneur.2025.1666318

This article is part of the Research TopicDisparities, controversies and unmet needs in the management of cardiomyopathiesView all 4 articles

MONITORING PATIENTS AND ASYMPTOMATIC CARRIERS WITH HEREDITARY TRANSTHYRETIN AMYLOIDOSIS: REGIONAL PROTOCOL OF EMILIA-ROMAGNA ATTR WORKING GROUP

Provisionally accepted
Pietro  GuaraldiPietro Guaraldi1Isabella  AllegriIsabella Allegri2Alessandra  AriattiAlessandra Ariatti3Tommaso  BaldiniTommaso Baldini4Andrea  BarbieriAndrea Barbieri5Federico  BarocelliFederico Barocelli6Michela  BartolottiMichela Bartolotti7Elena  BiaginiElena Biagini8,9Francesca  BianchiFrancesca Bianchi10Annamaria  BorghiAnnamaria Borghi11Claudia  BorghiClaudia Borghi12Giuseppe  BorianiGiuseppe Boriani5Ilaria  CaniIlaria Cani1Samuela  CarigiSamuela Carigi13Luca  CodeluppiLuca Codeluppi14Marco  CurrĂ² DossiMarco CurrĂ² Dossi15Francesca  DalpozzoFrancesca Dalpozzo16Roberto  D'AngeloRoberto D'Angelo1Riccardo  De GennaroRiccardo De Gennaro17Francesco  Di SpignoFrancesco Di Spigno18Elisa  GardiniElisa Gardini19Gianluca  LanatiGianluca Lanati20Chiara  LeuzziChiara Leuzzi21Francesca  MarzoFrancesca Marzo13Marco  MasulloMarco Masullo1Gaia  MazzantiGaia Mazzanti22Elisa  MerliElisa Merli23Agnese  MilandriAgnese Milandri24Dennis  MonariDennis Monari12Enrica  PeruginiEnrica Perugini25Alberto  PonzianiAlberto Ponziani26Emanuela  PostiglioneEmanuela Postiglione27Marta  RasiaMarta Rasia28Rita  RinaldiRita Rinaldi1Davide  ScancarelloDavide Scancarello27Kevin  SerafiniKevin Serafini5Matteo  SerenelliMatteo Serenelli29Maurizio  SguazzottiMaurizio Sguazzotti25Ernesto  SienaErnesto Siena30Anna  Maria SimoneAnna Maria Simone31Chiara  TerraccianoChiara Terracciano32Chiara  ValentiChiara Valenti21Giovanni  VitaleGiovanni Vitale26Maria  VitielloMaria Vitiello10Longhi  SimoneLonghi Simone8,9*
  • 1IRCCS Istituto Delle Scienze Neurologiche di Bologna, Bologna, Italy
  • 2U.O. di Neurologia, Azienda Ospedaliero-Universitaria di Parma, Parma, Italy
  • 3Universita degli Studi di Modena e Reggio Emilia Dipartimento di Scienze Biomediche Metaboliche e Neuroscienze, Modena, Italy
  • 4U.O. di Neurologia, Ospedale degli Infermi di Rimini, Rimini, Italy
  • 5U.O. di Cardiologia, Universita degli Studi di Modena e Reggio Emilia Dipartimento di Scienze Biomediche Metaboliche e Neuroscienze, Modena, Italy
  • 6U.O. di Cardiologia, Azienda Ospedaliero-Universitaria di Parma, Parma, Italy
  • 7U.O. di Cardiologia, Ospedale M Bufalini di Cesena, Cesena, Italy
  • 8U.O. di Cardiologia, IRCCS Azienda Ospedaliero-Universitaria di Bologna Policlinico di Sant'Orsola, Bologna, Italy
  • 9European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD- Heart, Bologna, Italy
  • 10U.O. di Neurologia, Ospedale M Bufalini di Cesena, Cesena, Italy
  • 11U.O.C. Neurologia Rete Stroke Metropolitana, IRCCS Istituto Delle Scienze Neurologiche di Bologna, Bologna, Italy
  • 12U.O. di Cardiologia, Ospedale Ramazzini, Carpi, Italy
  • 13U.O. di Cardiologia, Ospedale degli Infermi di Rimini, Rimini, Italy
  • 14U.O. di Neurologia, Arcispedale Santa Maria Nuova di Reggio Emilia, Reggio Emilia, Italy
  • 15U.O. di Neurologia, Ospedale Santa Maria delle Croci, Ravenna, Italy
  • 16U.O. di Neurologia, Ospedale di Lugo Umberto I, Lugo, Italy
  • 17U.O. di Neurologia, Azienda Ospedaliero Universitaria di Ferrara Arcispedale Sant'Anna, Cona, Italy
  • 18U.O. di Cardiologia, Ospedale Guglielmo da Saliceto, Piacenza, Italy
  • 19U.O. di Cardiologia, Ospedale Morgagni-Pierantoni, Forli, Italy
  • 20U.O. di Cardiologia, Ospedale di Castel San Giovanni, Castel San Giovanni, Italy
  • 21U.O. di Cardiologia, Arcispedale Santa Maria Nuova di Reggio Emilia, Reggio Emilia, Italy
  • 22U.O. di Cardiologia, Ospedale Bellaria Carlo Alberto Pizzardi, Bologna, Italy
  • 23U.O. di Cardiologia, Ospedale degli Infermi di Faenza, Faenza, Italy
  • 24U.O. di Cardiologia, Ospedale di Bentivoglio, Bentivoglio, Italy
  • 25U.O. di Cardiologia, Ospedale Maggiore Carlo Alberto Pizzardi, Bologna, Italy
  • 26U.O. di Cardiologia, Ospedale di Imola Santa Maria della Scaletta, Imola, Italy
  • 27U.O. di Cardiologia, Ospedale Santa Maria delle Croci, Ravenna, Italy
  • 28U.O. di Cardiologia, Ospedale di Fidenza, Fidenza, Italy
  • 29Azienda Ospedaliero Universitaria di Ferrara Arcispedale Sant'Anna Cardiologia, Cona, Italy
  • 30U.O. di Neurologia, Ospedale di Fidenza, Fidenza, Italy
  • 31U.O. di Neurologia, Ospedale Ramazzini, Carpi, Italy
  • 32U.O. di Neurologia, Ospedale Guglielmo da Saliceto, Piacenza, Italy

The final, formatted version of the article will be published soon.

Transthyretin amyloidosis (ATTR) is a rare disease caused by the extracellular accumulation of misfolded transthyretin (TTR) amyloid fibrils. ATTR can be either hereditary (ATTRv) or acquired (wtATTR). ATTRv is caused by a mutation in the transthyretin gene (TTR) with an autosomal dominant pattern of inheritance.In ATTRv amyloidosis, some patients primarily exhibit symptoms of polyneuropathy others mainly or exclusively present with symptoms of cardiomyopathy. However, many patients present with a multisystemic involvement that includes sensory, motor, autonomic, and cardiac symptoms. Early diagnosis and detection of disease progression are emerging as a crucial need for ATTR amyloidosis in order to significantly impact survival, patients' functions and quality of life. Currently, parameters to be monitored in ATTR patients in the real life might refer to some publicly available recommendations regarding the monitoring and assessment of disease progression in the real-world setting of patients with ATTRv. Nonetheless, a standardized disease monitoring protocol has not been established in Italy, posing a significant unmet need for a prompt and equal access to care.Therefore, in the Emilia-Romagna Region the "ATTR Working Group" has sought to tailor the recommendations to the Regional "real clinical setting" in order to optimize and standardize a monitoring protocol aimed at identifying disease progression. Patients' and carriers' access to uniform monitoring routes across the entire Region ensures optimal disease management and economic sustainability.

Keywords: Amyloid, Transtiretina, Multidiscilinary Collaboration, Standardized, protocol

Received: 18 Jul 2025; Accepted: 06 Aug 2025.

Copyright: © 2025 Guaraldi, Allegri, Ariatti, Baldini, Barbieri, Barocelli, Bartolotti, Biagini, Bianchi, Borghi, Borghi, Boriani, Cani, Carigi, Codeluppi, CurrĂ² Dossi, Dalpozzo, D'Angelo, De Gennaro, Di Spigno, Gardini, Lanati, Leuzzi, Marzo, Masullo, Mazzanti, Merli, Milandri, Monari, Perugini, Ponziani, Postiglione, Rasia, Rinaldi, Scancarello, Serafini, Serenelli, Sguazzotti, Siena, Simone, Terracciano, Valenti, Vitale, Vitiello and Simone. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: Longhi Simone, European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD- Heart, Bologna, Italy

Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.