MANagement Of patients with Systemic Sclerosis (MANOSS project): A mixed methods study of chronic illness management practice patterns and the development of a new model of care

Systemic sclerosis (SSc) is a rare multisystemic autoimmune connective‐tissue disease characterized by a chronic and frequently progressive disease course. Approximately 20 in 100’000 adults are affected.[1, 2] Variability in disease severity, progression, and organ involvement challenge timely diagnosis and effective disease management, contributing to high mortality.[1, 3] Approximately 75% of patients develop organ involvement within the first five years of diagnosis, with early manifestations including skin fibrosis (75%), gastrointestinal symptoms (71%), lung involvement (65%), digital ulcers (34%) and cardiac involvement (32%).[3]
For patients with rapidly progressive dcSSc and a high risk of organ failure in an early disease stage the only treatment known to modify the overall disease course is autologous haematopoietic stem cell transplantation (HSCT).[4, 5] However, HSCT therapy's high mortality rates and association with secondary autoimmune diseases make it only recommendable for patients with early rapidly progressive SSc, yet without severe organ involvement.[5] In most cases, then, medical management must be tailored to individual organ sequelae and disease progression, i.e., regular multidisciplinary consultations to identify organ involvement early as well as pharmacological and non-pharmacological interventions to decrease/slow disease progression and reduce organ damage.[4]
At the same time, therapeutic interventions need to focus on improving the SSc population's health-related quality of life (HRQoL).[6] Over the disease's trajectory, patients experience numerous physical and psychosocial problems, including fatigue, hand stiffness, Raynaud’s phenomenon, digital ulcers, shortness of breath, pain, gastrointestinal symptoms, work disability, depression, anxiety (e.g., regarding disease progression), and dissatisfaction with body image.[6-10] Numerous studies report severely impaired physical and psychological HRQoL in SSc.[10-13]
Rare disease patients' disease pathways are often complex, calling for large numbers of healthcare professionals (HPs), all of whom need to collaborate and coordinate their efforts to deliver safe, effective high-quality care.[14, 15] Compared to groups with more frequent chronic diseases, SSc patients are less likely to receive timely, person-centred care tailored to their individual health problems and psychosocial concerns. And as most interventions for patients with rare diseases are only available at specialized treatment centres, distance from a centre can act as a further barrier.[14, 16]
To ease the strain SSc patients face to receive high-quality treatment, it will be necessary to optimize and reshape the current SSc management system. To guide this process, we will use the eHealth-enhanced chronic care model (eCCM), a longstanding and widely adopted development model that includes eHealth approaches to guide chronic illness management.[17-19] Its central aim is to improve health outcomes through effective and productive interactions between prepared, proactive practice teams and informed, activated patients.
The eCCM defines and focuses on seven core elements of effective healthcare delivery: community resources, health system factors, self-management support, delivery-system design (e.g., continuity of care), decision support, clinical information systems, and eHealth education.[18] A significant body of literature has reported that in highly prevalent chronic conditions such as asthma, cardiovascular disease, depression, diabetes and osteoarthritis, incorporating eCCM elements (e.g., self-management support, clinical decision support) into care is associated with improvements in patient health outcomes, reduced health service use and reduce healthcare costs.[19-22]
Unlike with frequent chronic conditions, however, few examples describe the development and evaluation of integrated care models for rare diseases.[23-26] Similarly, participatively developed (i.e., by patients and providers together) care models for SSc with appropriate contextually adapted strategies are scarce.[27]
Therefore, for patients living with SSc in Switzerland and their families, the MANagement Of Systemic Sclerosis (MANOSS) study aims to develop a rare disease chronic care model based on a contextual analysis and stakeholder involvement. When empirical evidence is limited (as is often the case with rare disease populations), an in-depth understanding of context, practice patterns and the target audience’s needs and barriers is crucial.[28-31] Before beginning our development process, compelling arguments support the need to first describe and understand the practice patterns and needs of the target patient group (in this case, people living with SSc), as well as the perspectives of the HPs who care for them within the Swiss healthcare system.
Therefore, this dissertation’s main objective is to generate a comprehensive understanding of current chronic illness management and eHealth use in SSc. Our findings will inform the development of a chronic care model that focuses entirely on rare disease management. Preliminary steps included the adaptation and validation of specific measurement tools for the SSc population, followed by two mixed-method studies to assess chronic care and eHealth implementation in the Swiss setting in consultation with all relevant stakeholder groups.
Chapter 1 provides a general introduction to current situation regarding medical and non-pharmacological SSc management. This chapter also presents the MANOSS project's theoretical framework, including the evidence base regarding eHealth-facilitated integrated care models first for more common chronic diseases, then those specifically for rare rheumatic conditions. In addition, it summarizes selected approaches to assessing eHealth-facilitated integrated care in SSc.
Chapter 2 presents this dissertation’s rationale and specific study aims.
The study protocol presented in Chapter 3 describes the contextual analysis and development of a culturally sensitive chronic illness management model for patients with SSc and their families (i.e., the MANOSS study protocol). This includes a description of the explanatory sequential mixed method study we conducted for our contextual analysis, which was supported by broad stakeholder involvement regarding the model's development, plus a Delphi study to reach consensus. As our guiding framework, we chose the eCCM.[17, 18]
To the best of our knowledge, MANOSS is the first study to assess chronic illness management and technology readiness in a rare rheumatic disease such as SSc from the perspectives of patients, families and HPs. Concretely, this study consists of three phases, the first two of which we have completed. First, to identify SSc patients' and HPs' current chronic illness management practice patterns and technology readiness, we conducted a quantitative cross-sectional survey of patients and healthcare professionals. Second, to deepen our understanding of the care needs identified via the quantitative survey, we conducted qualitative interviews with patients (n=14), family members (n=5) and HPs (n=14). Participants of both study phases were recruited from all Swiss University hospitals (Basel, Bern, Geneva, Lausanne, Zurich), one regional (state) hospital (Lucerne), rheumatology outpatient clinics and the Swiss scleroderma patients’ association.
For the third phase, based on our analyses of the survey and interview data from the earlier phases, plus input from patients, healthcare professionals, and other experts, we will co-create a model of integrated SSc care. As a first step, to discuss and validate our quantitative and qualitative findings, we conducted three national/international focus group discussions (n=17) with individuals with several years of experience with (1) SSc as a patient or (2) family member and/or (3) professional experience in chronic care, implementation science, and/or health policy. Last (not part of this dissertation), we will incorporate the overall findings of the MANOSS project into the first draft of a logic model, which will describe how we anticipate our proposed integrated care activities and implementation strategies will lead to the desired outcomes.[32]
Chapter 4 describes our revision and validation of the German version of the 29-item Systemic Sclerosis Quality of Life Questionnaire (SScQoL). The SScQoL is a rare disease patient-reported outcome measure (PROM) validated in six languages to assess health-related quality of life (HRQoL) in SSc.[33, 34] Previous evaluation of the German version revealed problems with dichotomous responses.[33] Our study's aim was to revise the German SScQoL by extending its response structure, as well as re-evaluating its content and construct validity, reliability and unidimensionality. For example, based on our cognitive debriefing of patients (n=6) we extended dichotomous items to a 4-point response structure.[35, 36]
A total of 78 patients completed the revised SScQoL. Rasch analysis was employed to test its validity, reliability and unidimensionality.[37, 38] Initial results for the 29 items suggested the scale lacked fit with the model ($X^2$=51.224, df=29, p=0.007). Grouping the items into five domains resulted in an adequate fit ($X^2$=5.343, df=5, p=0.376) and unidimensionality (proportion of significant independent t-tests: 0.045, 95%CI: 0.016 to 0.114). The results indicate that, with its 4-point response structure, the revised German SScQoL is a valid and reliable measure. Further analyses suggested that the scale was well targeted, had high internal consistency (Person Separation Index, PSI=0.931) and worked consistently in patients with different demographic and clinical characteristics.
The manuscript presented in Chapter 5 reports on our explanatory sequential mixed methods analysis[39] of the current state of SSc chronic illness care from the patients' perspective, along with their HRQoL. For the first of these, our quantitative phase collected patients' (n=101) ratings of the chronic care they received across the five dimensions of the Patient Assessment of Chronic Illness Care (PACIC) scale;[40] for the second it used the SScQol.[33] The results informed the subsequent qualitative phase, which involved interviews with (n=4) individuals and one focus group (n=4).
For this phase, our main aim was to use both the interview and focus-group data to clarify the larger group's PACIC responses. The mean overall PACIC score was 3.0 out of a maximum score of 5 (95% CI: 2.8–3.2, n= 100), indicating that SSc care was ‘never’ to ‘generally not’ aligned with the CCM. Overall, the chronic care ratings were relatively poor. In fact, certain key elements of chronic care (i.e., shared decision-making and self-management support) were notably absent from several patients' SSc management.
The quantitative findings were congruent with our qualitative data: patients confirmed frequently encountering major shortcomings in care. These included experiencing organized care with limited participation, not knowing which strategies are effective or harmful and feeling left alone with disease and psychosocial consequences. They filled these gaps in care by dealing with the illness in tailored measure, taking over complex coordination of care and relying on an accessible and trustworthy team.
These findings emphasize the problem that key elements of chronic care are not yet systematically implemented in SSc care. Most notably, we identified gaps in shared decision-making, goal-setting and individual counselling—all of which are vital tools to support patient self-management skills. Furthermore, there is a lack of complex care coordination tailored to individual patient needs.
The explanatory sequential mixed methods study[39] described in Chapter 6 assessed eHealth literacy and needs regarding web-based support via internet-based information and communication technologies (ICTs). The quantitative phase included 101 patients and 47 providers; the qualitative phase collected data from focus groups including Swiss/international patients, family members and HPs (n=17). Of the patients, 89.1% used ICTs at least weekly for private communication. Patients reported relatively high comprehension of eHealth information ($\overline{x}$=6.7, 95% CI 6.2–7.3, Range 1-10), but were less confident about evaluating information reliability ($\overline{x}$=5.8, 95% CI 5.1–6.4) or finding eHealth apps ($\overline{x}$=4.8, 95% CI 4.2–5.4). Both patients and professionals reported little experience with web-based self-management support.
Regarding acceptability criteria for ICT-based SSc management support, focus groups mentioned considering non-ICT-accessible groups and fitting patients’ and professionals’ technology as crucial. In relation to understanding/appraising eHealth, participants emphasized that general SSc information is not tailored to individual disease courses. Recommendations included providing timely, understandable, and safe information and empowering end-users in ICT and health decision-making skills. While professionals expressed concerns about lacking resources (financial, human), patients placed higher values on data security and person-centredness. Key eHealth drivers included addressing end-user perceptions and putting people at the centre of technology.
This chapter's results highlight patients' and HPs' shared need for training to support their uptake of eHealth resources. Key elements include guiding patients to timely/reliable information and using eHealth tools to optimize patient-provider communication. Regarding design, responsiveness to end-users needs and consideration for individuals with limited eHealth literacy and/or ICT access both also appear to be critical for acceptability.
Chapter 7 summarizes the key findings of the previous four chapters' research, discusses them in light of the existing body of evidence and suggests implications for clinical practice and policy. This is followed first by a reflection on the strengths and limitations of our methods, then by implications for future research.
This dissertation contributes to the scientific and clinical knowledge by strengthening a comprehensive perspective on SSc care needs and key elements of chronic care that require systematic implementation in the current management of this rare disease. It identifies four target areas for system change, all of which are particularly important for the reorganization of care toward an eHealth-facilitated integrated SSc care model: shared and informed decision-making, complex care coordination, self-management and psychological support, and monitoring of integrated care programs. These areas are elaborated under the overarching need for rare disease care that is specialised, accessible and patient-centred, and thus leaves no one behind[26]. For future model and program development, these findings provide the basic materials to bridge these gaps at the clinical, delivery system, and the health system levels.
Moreover, this dissertation’s findings highlight the value of integrating patients and other stakeholders in every step of the development of a rare disease care model, beginning with a comprehensive contextual analysis. Equipped with the framework and methods used in this project, other researchers can use them to shed light on other rare disease populations' integrated care needs. As our experience has shown, the components of the eCCM are invaluable to develop both targeted programs and improved outcome measurements for eHealth-facilitated integrated care.