Other publications

Other publications

An overlook on the current registries for rare and complex connective tissue diseases and the future scenario of TogethERN ReCONNET
Matilde Bandeira, Federica Di Cianni, Diana Marinello, Laurent Arnaud, Sara Cannizzo, Claudio Carta, Alain Cornet, Sara M. Barril, Inita Bulina, Alessandro Ferraris, João Fonseca, Andrea Gaglioti, Maarten Limper, Valentina Lorenzoni, Judith Majnik, Marco Matucci-Cerinic, Ilaria Palla, Simona Rednic, Matthias Schneider, Vanessa Smith, Alberto Sulli, Klaus Søndergaard, Simone Ticciati, Angela Tincani, Giuseppe Turchetti, Rosaria Talarico, Maurizio Cutolo, Marta Mosca and Domenica Taruscio
Front. Med. 9:889997. doi: 10.3389/fmed.2022.889997
Registries produce a real-world picture of diseases in all their aspects and may play a crucial role in supporting health care professionals in clinical practice and healthcare planning. Therefore, registries and databases constitute a key opportunity to enhance further medical research in a very challenging field. Recently, the ERN ReCONNET launched the first European Registry Infrastructure (TogethERN ReCONNET) with the aim to plan, upgrade and link registries for rare and complex connective tissue diseases (rCTDs), with the final goal to promote a harmonized data collection approach all over Europe for rCTDs. The present work, conducted in the framework of the ERN ReCONNET, was aimed at performing a mapping of all the existing registries for rCTDs and it was done by an extensive and systematic search. A total of 140 registries were found, 38 of which include multiple diseases. No disease-specific registry was identified for relapsing polychondritis, mixed connective tissue disease and undifferentiated connective tissue disease. This overview provides the starting point to identify the gaps and the strengths of registries on the coverage of rCTDs, and to develop a common data set and data collection approach for the establishment of the TogethERN ReCONNET Infrastructure. Collecting more evidence on some neglected rCTDs might surely have a big impact not only in clinical practice but also in the future health planning processes of policy makers.

An Opportunity to Harmonise the Approach to Patients’ Care Pathways for Rare and Complex Diseases: RarERN Path™
Rosaria Talarico, Diana Marinello, Sara Cannizzo, Ilaria Palla, Simone Ticciati, Andrea Gaglioti, Andrzej Rys, Carlo Milli, Domenica Taruscio, Marta Mosca e Giuseppe Turchetti
Front. Health Serv. 2:935014. doi: 10.3389/frhs.2022.935014
As a matter of fact, organisation always matters when discussing about healthcare, since it is fundamental in order to ensure the delivery of the most appropriate care to patients in the most appropriate way. Unfortunately, the pandemic brought by the severe acute respiratory syndrome-coronavirus 2 (SARS-CoV-2) imposed a huge reorganisation of the healthcare systems, with several repercussions on the care of several chronic conditions, that were in many cases discontinued. This was the case of rare diseases (RDs), conditions that even under normal circumstances can experience diagnostic delays and difficulties in receiving appropriate care. The context of the European Reference Networks (ERNs) represents one of the most appropriate settings for the creation of organisational reference models for patient care pathways (PCP). As a matter of fact, the main mission of ERNs is to improve the care of patients with RDs in Europe through a patient-centred approach, thanks to real multistakeholder involvement. For this reason, in the last years, an extensive effort has been made towards the creation of a methodological approach aimed at providing organisational reference models for PCP in RDs across the different Member States. In fact, in order to develop the reference model, a structured methodology was created to enable the design of the PCP based on a deep sharing of expertise on high-quality care and characterised by a strong patient-centred approach: RarERN Path™. Among the different stakeholders that need to be involved in planning strategic actions to ensure care also during an emergency, patients’ representatives, healthcare professionals, hospital managers, and experts in healthcare organisations play a crucial role.

The impact of COVID-19 on rare and complex connective tissue diseases: the experience of ERN ReCONNET
Rosaria Talarico, Silvia Aguilera, Tobias Alexander, Zahir Amoura, Ana M. Antunes, Laurent Arnaud, Tadej Avcin, Lorenzo Beretta, Stefano Bombardieri, Gerd R. Burmester, Sara Cannizzo, Lorenzo Cavagna, Benjamin Chaigne, Alain Cornet, Nathalie Costedoat-Chalumeau, Andrea Doria, Alessandro Ferraris, Rebecca Fischer-Betz, João E. Fonseca, Charissa Frank, Andrea Gaglioti, Ilaria Galetti, Jürgen Grunert, Vera Guimarães, Eric Hachulla, Frederic Houssiau, Luca Iaccarino, Thomas Krieg, Marteen Limper, Fransiska Malfait, Xavier Mariette, Diana Marinello, Thierry Martin, Lisa Matthews, Marco Matucci-Cerinic, Alain Meyer, Carlomaurizio Montecucco, Luc Mouthon, Ulf Müller-Ladner, Simona Rednic, Vasco C. Romão, Matthias Schneider, Vanessa Smith, Alberto Sulli, Farah Tamirou, Domenica Taruscio, Anna V. Taulaigo, Enrique Terol, Angela Tincani, Simone Ticciati, Giuseppe Turchetti, P. Martin van Hagen, Jacob M. van Laar, Ana Vieira, Jeska K. de Vries-Bouwstra, Maurizio Cutolo and Marta Mosca
Nat Rev Rheumatol (2021). doi: 10.1038/s41584-020-00565-z
The COVID-19 pandemic has brought many challenges to the already vulnerable communities of patients with rare connective tissue diseases (rCTDs). The aim of this paper is to highlight that many of these challenges can be translated into positive lessons to be applied in the post-COVID era.

RarERN Path: a methodology towards the optimisation of patients’ care pathways in rare and complex diseases developed within the European Reference Networks
Rosaria Talarico, Sara Cannizzo, Valentina Lorenzoni, Diana Marinello, Ilaria Palla, Salvatore Pirri, Simone Ticciati, Leopoldo Trieste, Isotta Triulzi, Enrique Terol, Anna Bucher and Giuseppe Turchetti
Orphanet J Rare Dis 15, 347 (2020). doi: 10.1186/s13023-020-01631-1
The object of this paper is to provide a careful description of the RarERN Path methodology, that aims to create a single reference organisational model for patients’ care pathways which, if applied in different contexts, helps to ensure an improved, cost-effective and patient-centred equal care to rare and complex diseases.

Clinical practice guidelines adherence, knowledge and awareness in rare and complex connective tissue diseases across Europe: results from the first ERN ReCONNET survey
Rosaria Talarico, Diana Marinello, Stefano Bombardieri, Gerd Burmester, Joao Fonseca, Charissa Frank, Ilaria Galetti, Eric Hachulla, Frederic Houssiau, Ulf Mueller-Ladner, Matthias Schneider, Vanessa Smith, Giuseppe Turchetti, Jacob M van Laar, Ana Vieira, Maurizio Cutolo and Marta Mosca
ERN ReCONNET developed two surveys to map the adherence to rare and complex connective tissue and musculoskeletal diseases (rCTDs) clinical practice guidelines (CPGs) among healthcare providers and to assess the knowledge and awareness of CPGs for their diseases among patients, family members and caregivers. According to the results of the surveys, ERN ReCONNET is addressing the main issues identified, promoting practical actions for the local adaptation of CPGs across Europe, improving their routine clinical use and increasing the awareness on CPGs among rCTDs patients, family members and caregivers.

Exploring patient education unmet needs for rare and complex connective tissue and musculoskeletal diseases: A survey of health care providers’ and patients’ expectations in Europe
Meryem-Maud Farhat, Alain Cornet, Charissa Frank, Ilaria Galetti, Juergen Grunert, Vera Guimarães, Ana Vieira, Eric Hachulla
Chronic Illn. 2020 Oct 22;1742395320968618. doi: 10.1177/1742395320968618
ERN ReCONNET involves health care providers (HCPs) from 8 European countries and 7 patients’ representatives of European Patient Advocacy Groups. The objective was to evaluate current practice and unmet needs for patient education (PE) in Europe. The survey revealed a strong interest in PE among patients and HCP and heterogeneity of practice. PE appeared important for both HCPs and patients. An online course for medical students in Europe will be developed in partnership with EULAR to respond to these unmet needs.

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