The added value of a European Reference Network on rare and complex connective tissue and musculoskeletal diseases: insights after the first 5 years of the ERN ReCONNET.

In order to address the main challenges related to the rare diseases (RDs) the European Commission launched the European Reference Networks (ERNs), virtual networks involving healthcare providers (HCPs) across Europe. The mission of the ERNs is to tackle low prevalence and RDs that require highly specialised treatment and a concentration of knowledge and resources. In fact, ERNs offer the potential to give patients and healthcare professionals across the EU access to the best expertise and timely exchange of lifesaving knowledge, trying to make the knowledge travelling more than patients. For this reason, ERNs were established as concrete European infrastructures, and this is particularly crucial in the framework of rare and complex diseases in which no country alone has the whole knowledge and capacity to treat all types of patients.It has been five years since their kick-off launch in Vilnius in 2017. The 24 ERNs have been intensively working on different transversal areas, including patient management, education, clinical practice guidelines, patients' care pathways and many other fundamental topics. The present work is therefore aimed not only at reporting a summary of the main activities and milestones reached so far, but also at celebrating the first 5 years of the ERN on Rare and Complex Connective Tissue and Musculo-skeletal Diseases (ReCONNET), in which the members of the network built together one of the 24 infrastructures that are hopefully going to change the scenario of rare diseases across the EU.

The validity and reliability of the Swedish version of the Satisfaction with appearance scale for individuals with systemic sclerosis.

Background: Systemic sclerosis (SSc) can lead to visible changes in appearance which could generate concerns among patients. Thus, valid questionnaires that capture these concerns are valuable to identify and communicate appearance concerns. Objective: To determine aspects of the validity and reliability of the Swedish version of the Satisfaction with Appearance scale for individuals with SSc (SWAP-Swe in SSc). Methods: Content validity was assessed by interviews. In a cross-sectional design, construct validity was evaluated by comparing the self-reported questionnaire SWAP-Swe in SSc to the Scleroderma Health Assessment Questionnaire (SSc HAQ), Patient Health Questionnaire-8 (PHQ-8), RAND-36, modified Rodnan skin score (mRSS), disease duration and age using Spearman's rank correlations (rs ). Internal consistency was evaluated by Cronbach's alpha coefficient and corrected item-to-total correlations. Test-retest reliability was investigated using the intraclass correlation coefficient (ICC). Results: Eleven patients and 10 health professionals participated in the assessment of content validity. For the other aspects of validity and reliability 134 patients (median age 62 years, women 81%, limited cutaneous SSc 75%) participated. Overall, the content validity was satisfactory. The SWAP-Swe in SSc correlated with SSc HAQ (HAQ-DI rs = 0.50, visual analogue scales rs = 0.24-0.41), PHQ-8 (rs = 0.46), RAND-36 (rs = -0.21 to -0.47), mRSS (rs = 0.28), disease duration (rs = -0.01) and age (rs = -0.15). The Cronbach's alpha coefficient was 0.92, corrected item-to-total correlations ⩾ 0.45 and the ICC 0.82. Conclusion: The SWAP-Swe in SSc showed satisfactory content validity, sufficient and good internal consistency and sufficient test-retest reliability. It was more strongly associated with self-reported questionnaires than with physician-assessed skin involvement and age, indicating that appearance concerns in SSc seem to be multidimensional as earlier reported. Our study contributes with a thorough investigation of validity and reliability including aspects that have not been investigated before. However, evaluation of more validity aspects of the SWAP-Swe in SSc is suggested.

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.

Exercise as a multi-modal disease-modifying medicine in systemic sclerosis: An introduction by The Global Fellowship on Rehabilitation and Exercise in Systemic Sclerosis (G-FoRSS).

Systemic sclerosis (SSc) is a heterogeneous multisystem autoimmune disease whereby its main pathological drivers of disability and damage are vascular injury, inflammatory cell infiltration, and fibrosis. These mechanisms result in diffuse and diverse impairments arising from ischemic circulatory dysfunction leading to painful skin ulceration and calcinosis, neurovascular aberrations hindering gastrointestinal (GI) motility, progressive painful, incapacitating or immobilizing effects of inflammatory and fibrotic effects on the lungs, skin, articular and periarticular structures, and muscle. SSc-related impairments impede routine activities of daily living (ADLs) and disrupt three critical life areas: work, family, social/leisure, and also impact on psychological well-being. Physical activity and exercise are globally recommended; however, for connective tissue diseases, this guidance carries greater impact on inflammatory disease manifestations, recovery, and cardiovascular health. Exercise, through myogenic and vascular phenomena, naturally targets key pathogenic drivers by downregulating multiple inflammatory and fibrotic pathways in serum and tissue, while increasing circulation and vascular repair. G-FoRSS, The Global Fellowship on Rehabilitation and Exercise in Systemic Sclerosis recognizes the scientific basis of and advocates for education and research of exercise as a systemic and targeted SSc disease-modifying treatment. An overview of biophysiological mechanisms of physical activity and exercise are herein imparted for patients, clinicians, and researchers, and applied to SSc disease mechanisms, manifestations, and impairment. A preliminary guidance on exercise in SSc, a research agenda, and the current state of research and outcome measures are set forth.