An overlook on the current registries for rare and complex connective tissue diseases and the future scenario of TogethERN ReCONNET

European Reference Networks; Rare and complex connective tissue diseases; RegistriesRedes Europeas de Referencia; Enfermedades raras y complejas del tejido conjuntivo; RegistrosXarxes de referència europees; Malalties rares i complexes del teixit conjuntiu; RegistresBackground: Patient registries play a crucial role in supporting clinical practice, healthcare planning and medical research, offering a real-world picture on rare and complex connective tissue diseases (rCTDs). ERN ReCONNET launched the first European Registry Infrastructure with the aim to plan, upgrade and link registries for rCTDs, with the final goal to promote a harmonized data collection approach all over Europe for rCTDs. Methods: An online survey addressed to healthcare professionals and patients' representatives active in the field of rCTDs was integrated by an extensive database search in order to build a mapping of existing registries for rCTDs. Findings: 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. Discussion: This overview on the existing registries for rCTDs provides a useful 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.This work was funded by the European Union's Health Program (2014–2020). ERN ReCONNET is one of the 24 European Reference Networks (ERNs) approved by the ERN Board of Member States. The ERNs are co-funded by the EC (European Commission) (grant no. 947700)

RarERN Path: a methodology towards the optimisation of patients’ care pathways in rare and complex diseases developed within the European Reference Networks

Background: In 2017, the European Commission has launched the European Reference Networks (ERNs), virtual networks involving healthcare providers across Europe. The aim of the ERNs is to tackle complex and rare diseases and conditions that require highly specialized treatment and a concentration of knowledge and resources. The ERN on rare and complex connective tissue and musculoskeletal diseases (ERN ReCONNET) is one of the 24 ERNs approved that aims to improve the management of Rare and Complex Connective Tissue and Musculoskeletal Diseases. Objective: The RarERN Path methodology 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. Methods: Starting from existing standard methods for the creation and elaboration of patients’ care pathways, a specific methodology was created in order to take advantage of the distinctive and peculiar characteristics of the ERNs. Specifically, the development of the RarERN Path methodology involved different stakeholders: health economists, clinicians and researchers expert in rare and complex diseases, communication experts, experts in patients’ involvement and narrative medicine and policy-makers. Results: The RarERN Path methodology foresees six consecutive phases, each with different and specific aims. Specifically, the six phases are represented by: Phase 1—mapping of existing patients’ care pathways and patients’ stories; Phase 2—design of an optimised common patients’ care pathway; Phase 3—consensus on an optimised common patients’ care pathway; Phase 4—key performance indicators definition; Phase 5—refinement; Phase 6—pilot phase (optional). Conclusion: The application of RarERN Path to the different disease-specific and geographical contexts would help to ensure an improved, cost-effective and patient-centred equal care to rare and complex diseases across Europe as well as a possible tangible action towards the integration of ERNs into the different European healthcare systems

A cost-of-illness study of Behçet syndrome in Italy

Objective: This study aims at evaluating the cost-of-illness (COI) of patients diagnosed with Behcet's syndrome (BS) in Italy, trying to depict the impact of different costs' components to the overall economic burden and analysing the variability of costs according to years since diagnosis and age at first symptoms. Methods: With a cross-sectional evaluation, we surveyed a large sample of BS patients in Italy assessing several dimensions related to BS, also including fact related to the use of health resources utilization, formal and informal care, and productivity losses. Overall costs, direct health, direct non-health, and indirect costs were thus estimated per patient/year considering a Societal perspective and the impact of years since diagnosis, age at first symptoms on costs was evaluated using generalized linear model (GLM) and a two-part model, adjusting for age and distinguishing among employed and non-employed responders. Results: A total of 207 patients were considered in the present study. From the perspective of the Society, mean overall costs for BS patient were estimated to be 21,624 € (0;193,617) per patient/year. Direct non-health expenses were the main costs component accounting for 58% of the overall costs, followed direct health costs, 36%, while indirect costs because of productivity losses represented 6% of the overall costs. Being employed resulted in significantly lower overall costs (p = 0.006). Results from the multivariate regression analyses suggested that the probability of incurring in overall costs equal to zero decreased as time from BS diagnosis is 1 year or more as compared to newly diagnosed patients (p < 0.001); while among those incurring in expenses, costs decreased for those experiencing first symptoms between 21 and 30 years (p = 0.027) or later (p = 0.032) as compared to those having symptoms earlier. Similar findings emerged among the subgroups of patients declaring themselves as workers, while no impact of years since diagnosis or age of first symptoms was found among non-workers. Conclusions: The present study offers a comprehensive overview of the economic consequences imposed by BS in a societal perspective, providing insights into the distribution of the different costs component related to BS, thus helping the development of targeted policies

Adherence to treatment in Behçet's syndrome: a multi-faceted issue

The aim of this study is to explore the adherence to treatment in patients with Behçet's syndrome (BS), to identify the diverse adherence profiles and their correlations

Patient engagement in healthcare: a preliminary set of measures to evaluate patient engagement in the European Reference Networks

Aim: The European Reference Networks (ERNs) provide clinicians and patients the opportunity to collaborate at EU level to improve diagnosis, care and treatment for people living with rare and complex conditions. However, building a partnership culture to systematically involve patients in ERN activities and decision-making structures is challenging, partly because the role of patient representatives and the value of this collaboration are not always understood. The objective of this project was to develop an evaluation framework to assess the impact of patient engagement in the ERNs and to provide evidence on the value of patient-clinician partnership.Methods: The evaluation was developed by EURORDIS and patient representatives involved in the ERNs (ePAG advocates) through a participatory and iterative process. The work was organised in three different phases: (1) clarify roles and identify common goals for ePAG advocates’ engagement in the ERNs; (2) define a set of measures; and (3) test the measures in three different ePAGs (European Patient Advocacy Groups).Results: The project allowed developing a common understanding among ePAG advocates of their role and goals in the ERNs and defining a patient-driven evaluation framework to assess their level of engagement in the ERNs’ activities and how effectively they were working to fulfil their role.Conclusion: Engaging with ERN clinicians to refine the framework would probably render it more relevant to the reality and priorities of the specific ERNs and more valuable as a tool to build a strong partnership culture. Such an evaluation framework could be integrated into the ERNs’ quality improvement system to ensure that the networks’ activities are driven by and remain responsive to patients’ needs

Clinical practice guidelines adherence, knowledge and awareness in rare and complex connective tissue diseases across Europe: results from the first ERN ReCONNET survey.

INTRODUCTION: The European Reference Network (ERN) ReCONNET is the ERN aimed at improving the management of rare and complex connective tissue and musculoskeletal diseases (rCTDs) across the European Union (EU). In the mission of ERN ReCONNET, clinical practice guidelines (CPGs) play a crucial role, representing a valid tool towards the harmonisation of the management of rCTDs while improving effectiveness and quality of care delivered to patients. METHODS: ERN ReCONNET developed two surveys to map the adherence to rCTDs CPGs among healthcare providers and to assess the knowledge and awareness of CPGs for their diseases among patients, family members and caregivers. RESULTS: The results of the surveys highlighted that healthcare professionals find it useful to apply CPGs in clinical practice (93%), while 62% of them experience difficulties and barriers in the application in their centres. Healthcare professionals also highlighted the need to develop CPGs for all rCTDs and to implement the use of the existing CPGs in clinical practice. On the other hand, patients, families and caregivers are relatively aware of the purpose of CPGs (51%) and 62% of them were aware of the existence of CPGs for their disease. Patient-friendly versions of CPGs and patients' lifestyle guidelines should be systematically developed contributing to the empowerment of patients in the disease management. CONCLUSION: ERN ReCONNET is addressing the main issues identified in the results of the survey, 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’s experience and unmet needs on pregnancy and family planning in rare and complex connective tissue diseases: a narrative medicine approach

Objective The aim of this work is to explore patient’ unmet needs of rare and complex rheumatic tissue diseases (rCTDs) patients during pregnancy and its planning by means of the narrative-based medicine (NBM) approach.Methods A panel of nine rCTDs patients’ representatives was identified to codesign a survey aimed at collecting the stories of rCTD patients who had one or more pregnancies/miscarriages. The results of the survey and the stories collected were analysed and discussed with a panel of patients’ representatives to identify unmet needs, challenges and possible strategies to improve the care of rCTD patients.Results 129 replies were collected, and 112 stories were analysed. Several unmet needs in the management of pregnancy in rCTDs were identified, such as fragmentation of care among different centres, lack of education and awareness on rCTD pregnancies among midwifes, obstetricians and gynaecologists. The lack of receiving appropriate information and education on rCTDs pregnancy was also highlighted by patients and their families. The need for a holistic approach and the availability specialised pregnancy clinics with a multidisciplinary organisation as well as the provision of psychological support during all the phases around pregnancy was considered also a priority.Conclusion The adoption of the NBM approach enabled a direct identification of unmet needs, and a list of possible actions was elaborated to improve the care of rCTD patients and their families in future initiatives

Patient Care Pathways for Pregnancy in Rare and Complex Rheumatic Diseases:Results From an International Survey

OBJECTIVE: To map existing organizational care pathways in clinical centers of expertise that care for pregnant women affected by rare and complex connective tissue diseases (rcCTDs). METHODS: An international working group composed of experts in the field of pregnancy in rcCTDs co-designed a survey focused on organizational aspects related to the patient's pathway before, during, and after pregnancy. The survey was distributed to subject experts through referral sampling. RESULTS: Answers were collected from 69 centers in 21 countries. Patients with systemic lupus erythematosus and/or antiphospholipid syndrome were followed by more than 90% of centers, whereas those with disorders such as IgG4-related diseases were rarely covered. In the majority of centers, a multidisciplinary team was involved, including an obstetrician/gynecologist in 91.3% of cases and other healthcare professionals less frequently. Respondents indicated that 96% of the centers provided routine pre-pregnancy care, whereas the number of patient visits during pregnancy varied across centers. A formalized care pathway was described in 49.2% of centers, and 20.3% of centers had a predefined protocol for the monitoring of pregnant patients. Access to therapies during pregnancy also was heterogeneous among different centers. CONCLUSION: In international referral centers, a high level of care is provided to patients with rcCTDs before, during, and after pregnancy. No significant discrepancies were found between European and non-European countries. However, this work highlights a potential benefit to streamlining the care approaches across countries to optimize pregnancy and perinatal outcomes among patients with rcCTDs.</p

Patient care pathways for pregnancy in rare and complex rheumatic diseases: results from an international survey

OBJECTIVE: To map existing organizational care pathways in clinical centers of expertise that care for pregnant women affected by rare and complex connective tissue diseases (rcCTDs). METHODS: An international working group composed of experts in the field of pregnancy in rcCTDs co-designed a survey focused on organizational aspects related to the patient's pathway before, during and after pregnancy. The survey was deployed to subject experts via referral sampling. RESULTS: Answers were collected from 69 centers in 21 countries. Patients with systemic lupus erythematosus and/or antiphospholipid syndrome were followed by more than 90% of centers, while diseases such as IgG4-related diseases were rarely covered. In the majority of centers, a multidisciplinary team was involved, including an obstetrician/gynaecologist in 91.3% of cases and other healthcare professionals less frequently. Respondents indicated that 96.0% of the centers provided routine pre-pregnancy care, while the number of patient visits during pregnancy varied across centers. A formalized care-pathway was described in 49.2% of centers, and 20.3% of centers had a pre-defined protocol for the monitoring of pregnant patients. Access to therapies during pregnancy also was heterogeneous among different centers. CONCLUSION: In international referral centers, a high level of care is provided to patients with rcCTDs before, during and after pregnancy. No significant discrepancies were found between European and non-European countries. However, this work highlights a potential benefit to streamline the care approaches across countries in order to optimize pregnancy and perinatal outcomes among patients with rcCTDs

An overlook on the current registries for rare and complex connective tissue diseases and the future scenario of TogethERN ReCONNET

Background: Patient registries play a crucial role in supporting clinical practice, healthcare planning and medical research, offering a real-world picture on rare and complex connective tissue diseases (rCTDs). ERN ReCONNET launched the first European Registry Infrastructure with the aim to plan, upgrade and link registries for rCTDs, with the final goal to promote a harmonized data collection approach all over Europe for rCTDs. Methods: An online survey addressed to healthcare professionals and patients' representatives active in the field of rCTDs was integrated by an extensive database search in order to build a mapping of existing registries for rCTDs. Findings: 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. Discussion: This overview on the existing registries for rCTDs provides a useful 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