Report and Abstracts of the 18th Meeting of the Interuniversity Institute of Myology: Virtual meeting, October 21-24, 2021

In 2021, as the situation due to COVID-19 pandemic was still uncertain, the 18 th annual meeting of the Interuniversity Institute of Myology (IIM), took place on a virtual platform, following the same organization already tested for the previous edition. Participants from Italy, European countries, Canada and USA included clinicians, scientists, pharmaceutical companies and representatives of patient organizations. Four keynote speakers presented new insights into the modulation of muscle stem cell self-renewal in the treatment of neuromuscular disease, the role of nuclear positioning in muscle function, regeneration and tumorigenesis in the heart and advances on therapies of muscular dystrophies. Young PhD students and trainees presented oral communications distributed in five scientific sessions and posters in two poster sessions. On October 21, 2021, selected young scientists participated in the “High Training Course on Advanced Myology”, organized with the University of Perugia, Italy. This course consisted of lectures on muscle regeneration and therapeutic perspectives by internationally recognized speakers, followed by roundtable discussions on “Omics technologies in myology” and “New therapeutic approaches”, plus the meeting itself. Young trainees, winners of past IIM conferences, forming the Young IIM Committee, selected one of Keynote speakers and were involved in the organization of scientific sessions and roundtable discussions. The friendly welcoming of the meeting, which has strongly characterized this event and is of great help in facilitating scientific exchanges and stimulating novel collaborations, was the hallmark of the conference this year again, even on virtual platform. Breakthrough studies showing interdisciplinary works are fostering new avenues in the field of myology. This year again, scientists and students attended the meeting at the huger number, challenging the difficulties due to the COVID-19 pandemic. All participants shared the wish to continue and implement IIM meeting with new insights on muscle biology, perspectives in the understanding of the muscle-related diseases and in novel therapeutic approaches. We report here abstracts of the meeting describing basic, translational, and clinical research contributing to the large field of myology.

Rare pediatric diseases and pathways to psychosocial care: a qualitative interview study with professional experts working with affected families in Germany

Background Rare diseases occur in early childhood and have a major impact on the quality of life of the affected children and their families. Their need for psychosocial support is considerable, but psychosocial care in Germany is still far from being part of routine care. We interviewed experts to explore how they describe the current pathways to psychosocial care, potential barriers and problems, and possibilities for improvements. Results We conducted telephone interviews with 49 experts working in somatic medicine, psychosocial medicine, patient organizations, child and youth welfare, and the educational sector. Interviews were transcribed and analyzed using focused interview analysis. Results document ways of access and facilities used by families to receive psychosocial care. The barriers described by the experts can be summarized on three levels: the family-organizational level, the family-psycho-emotional level, and finally, the structural system level. Accordingly, suggestions for improvement were directed at these levels. Conclusion Based on the experts' perspectives, there is ample room for improvement to facilitate the pathways to psychosocial care for children with rare diseases and their families. Unfortunately, there seems to be a long way to go before psychosocial care will be routinely provided. However, awareness of the issue among different professional groups is high, and numerous suggestions for improvement were made, including continuous expansion of services to all family members, strengthening of low-threshold services, simplifying application procedures, and more cooperation between different funding agencies as well as between different care providers.

An Analysis of Medical Care Services for Children With Rare Diseases in the Russian Federation

Rare diseases continue to present numerous challenges for the medical field worldwide. Understanding innovative mechanisms of service provision for patients with rare conditions through shared communication across different healthcare systems should be encouraged. This study presents the organization of medical care for people with rare diseases in Russia, while also exploring the epidemiology of both life-threatening and chronic, progressive, rare diseases. Further, the regulation of medical care provision is examined, including the preferential provision of medicines in different Russian regions and potential role of compulsory medical insurance. The principles guiding patient referrals to appropriate specialist centres for rare diseases are outlined, including considering the increased role that public-patient organizations have in developing healthcare systems. In reviewing the specialized resources available for patients with rare diseases, medical genetics services offering diagnostics and counselling are discussed. Additionally, population-level preventive care necessitates significant investment, principally in diagnostic technology and screening programs. As seen elsewhere, these initiatives involve forming reference centres and tertiary-level pediatric departments staffed by multidisciplinary specialists in rare diseases. Numerous challenges are highlighted relating to Russian healthcare systems, including the financing of expensive treatments and ensuring equitable access to medical care for those patients with rare diseases outside of State-subsidized programs. Recommendations are made on creating international registries for knowledge sharing, quality appraisal, newborn screening, diagnostic challenges, available treatments and rehabilitation services. Given the high cost of rare diseases, cost-effective interventions are advisable, particularly developing preventive programs and targeting the most common and severe mutations in patients planning pregnancies.

Exploring the concept inability to work fulltime in the context of work disability assessments: a qualitative study

Background In many countries inability to work fulltime is recognized as an important concept in work disability assessments. However, consensus is lacking regarding the concept and how it should be assessed. This study seeks to conceptualize and operationalize the concept of inability to work fulltime, and includes perspectives of both patients and physicians. Research questions involve identifying: 1. key elements, 2. measurable indicators, and 3. valid methods for assessing indicators of inability to work fulltime. Methods We used a qualitative study with a thematic content analysis design to conceptualize inability to work fulltime, based on nineteen semi-structured interviews conducted among insurance and occupational health physicians, and representatives of patient organizations. Results Inability to work fulltime is conceptualized as a complex concept which is strongly individually determined and variable due to time and underlying disease. Key dimensions of inability to work fulltime included besides the disease itself, also personal factors like psychological and lifestyle factors, as well as environmental factors related to the work situation and social context. Fatigue, cognitive impairments, and restrictions in functioning in- and outside work were reported as important measurable indicators. A combined use of self-assessment, assessment interviews, and testing, and assessment in the actual (work) setting was identified for assessing these indicators. Conclusion Taking into account the complex and variable nature of inability to work fulltime, we found it advisable to use multiple methods and multiple time points for the assessment. Results of this study provide starting points for further research on the operationalization of inability to work fulltime in a work disability context.

Patient organizations supporting health care and co-creating value: insights from a simulation model

Purpose Patient organizations (POs) belong to the non-profit world and carry on several activities alongside health care. However, literature devotes scarce attention to POs’ management specificities in the interaction with health-care delivery. This paper aims to describe the contribution of POs to health care from an operational point of view; investigate the effect of POs’ managerial choices on health-care performance; and provide useful insights for patient organizations and health-care management. Design/methodology/approach The paper combines qualitative case study research and system dynamics (SD). After a literature review about patient organizations’ role, modeling steps are described. In first place, the analyses of institutional documents, interviews and observations are condensed in a stock-and-flow diagram. The latter is translated into a set of differential equations to simulate the effect of alternative resource allocations. Findings The case study emphasizes PO’s educational and administrative role in supporting health-care delivery. Simulated policy scenarios, while confirming the positive contribution of patient co-created health, disclose potential divergencies in public and private/third sector decision-making, to be read considering key feedback mechanisms within the system. Originality/value This study proposes a holistic view of patient organizations’ engagement in health care. The findings highlight synergies and trade-offs of alternative managerial decisions involving POs and health-care providers, disclosing the benefits of joint resource planning.

Evaluation of short-term safety of COVID-19 vaccines in patients with multiple sclerosis from Latin America

Background To date, there are no data available on the safety of COVID-19 vaccines in Latin American patients with Multiple Sclerosis (MS). Objective Characterize safety of COVID-19 vaccines in Latin American (LATAM) patients with Multiple Sclerosis (pwMS). Methods A cross-sectional study between February 1, 2021, and April 30, 2021. Individuals with MS from LATAM countries were invited to participate in a self-administered web-based survey, through MS patient organizations from the region. Results 393 vaccinated pwMS from 10 different Latin American countries were included. The vaccines administered were: inactivated virus vaccines (IVV) in 38.2% of patients, adenovirus vector vaccines (AdV) in 48.8% and mRNA vaccines 13%. All patients received at least one dose of any of the COVID-19 vaccines and 123 (31.3%) declared receiving a second dose. Mean (SD) age 41.5 (11.8) years, 82.4% female, MS disease duration: 8.4 (8.2) years. No serious adverse events were reported with any of the COVID-19 vaccines after either the first or second dose. A lower frequency of adverse events was found with IVV (22%) in comparison with AdV (46.4%) and mRNA (35.3%) ( p < 0.01). Five participants reported having an MS relapse after IVV first dose. Conclusion COVID-19 vaccines applied in LATAM proved safe for MS patients.

Co-creation of practical “how-to guides” for patient engagement in key phases of medicines development—from theory to implementation

Background The effective impact of patient engagement (PE) across the medicines development continuum is widely acknowledged across diverse health stakeholder groups, including health authorities; however, the practical applications of how to implement meaningful and consistent PE are not always addressed. Guidance for the practical implementation of PE requires granularity, and the need for such guidance has been identified as a priority. We describe the co-production and summarize the content of how-to guides that focus on PE in the early stages of medicines development. Methods Multi-stakeholder working groups (WGs) were established by Patient Focused Medicines Development (PFMD) for how-to guide development. How-to guides were co-produced with patients for PE activities identified as priorities through public consultation and by WGs. Guides were developed by applying PE quality guidance and associated quality criteria in an iterative process. How-to guides underwent internal review and validation by experts (ie, those with relevant experience in the particular PE activity or focus area) in specific focus groups and external review and validation through appropriate events and public consultation. Results Overall, 103 individual contributors from 38 organizations (representing eight stakeholder groups, including patients/patient organizations) and from 14 countries were organized into WGs and workstreams. Each WG comprised 15–30 contributors with PE experience relevant to the specific how-to guide. How-to guides were developed for PE in the early discovery and preclinical phases; PE in the development of a clinical outcomes assessment strategy; and PE in clinical trial protocol design. The how-to guides have a standardized format and structure to promote user familiarity. They provide detailed guidance and examples that are relevant to the individual PE activity and aim to facilitate the practical implementation of PE. Conclusions The how-to guides form a comprehensive series of actionable and stepwise resources that build from and integrate the PE quality criteria across the medicines continuum. They will be made freely available through PFMD’s Patient Engagement Management Suite (pemsuite.org) and shared widely to a variety of audiences in different settings, ensuring access to diverse patient populations. Implementation of these guides should advance the field of PE in bringing new medicines to the market and ultimately will benefit patients. Plain English summary Medicines are developed to help patients improve their health and lives. Many organizations and individuals want to ensure that medicines are developed to meet real patient needs and to address what is most important to patients. Finding out what patients need and what patients want requires good patient engagement, but knowing how to do patient engagement is not always clear. This is because medicines development is complicated, and a lot of different steps, people, and organizations are involved. Patient Focused Medicines Development (PFMD) was established in 2015 to connect individuals and organizations that are committed to making medicines not just for patients but with patients. To do this, PFMD brought together patients and other groups of people with relevant experience and good ideas on how to achieve patient engagement in the real-world setting. Together, PFMD has developed “how-to guides” for patient engagement that cover the main activities along the medicines development process. The guides are free to use and provide practical advice and examples that anyone can use in their patient engagement activities. The how-to guides will also help patients to understand medicines development and how best they can participate in this process to address their needs.

Perceptions about Research Participation among Individuals at Risk and Individuals with Premanifest Huntington’s Disease: A Survey Conducted by the European Huntington Association

There has been great progress in Huntington’s disease (HD) research. Yet, effective treatments to halt disease before the onset of disabling symptoms are still unavailable. Scientific breakthroughs require an active and lasting commitment from families. However, they are traditionally less involved and heard in studies. Accordingly, the European Huntington Association (EHA) surveyed individuals at risk (HDRisk) and with premanifest HD (PreHD) to determine which factors affect their willingness to participate in research. Questions assessed research experience and knowledge, information sources, reasons for involvement and noninvolvement, and factors preventing and facilitating participation. The survey included 525 individuals, of which 68.8% never participated in studies and 38.6% reported limited research knowledge. Furthermore, 52% trusted patient organizations to get research information. Reasons for involvement were altruistic and more important than reasons for noninvolvement, which were related to negative emotions. Obstacles included time/financial constraints and invasive procedures, while professional support was seen as a facilitator. PreHD individuals reported less obstacles to research participation than HDRisk individuals. Overall, a high motivation to participate in research was noted, despite limited experience and literacy. This motivation is influenced by subjective and objective factors and, importantly, by HD status. Patient organizations have a key role in fostering motivation through education and support.

Increasing Genomic Literacy Through National Genomic Projects

Genomics is an advancing field of medicine, science, ethics, and legislation. Keeping up to date with this challenging discipline requires continuous education and exchange of knowledge between many target groups. Specific challenges in genomic education include tailoring complex topics to diverse audiences ranging from the general public and patients to highly educated professionals. National genomic projects face many of the same challenges and thus offer many opportunities to highlight common educational strategies for improving genomic literacy. We have reviewed 41 current national genomic projects and have identified 16 projects specifically describing their approach to genomic education. The following target groups were included in the educational efforts: the general public (nine projects), patients (six projects), and genomic professionals (16 projects), reflecting the general overall aims of the projects such as determining normal and pathological genomic variation, improving infrastructure, and facilitating personalized medicine. The national genomic projects aim to increase genomic literacy through supplementing existing national education in genomics as well as independent measures specifically tailored to each target group, such as training events, research collaboration, and online resources for healthcare professionals, patients, and patient organizations. This review provides the current state of educational activities within national genomic projects for different target groups and identifies good practices that could contribute to patient empowerment, public engagement, proficient healthcare professionals, and lend support to personalized medicine.

Assessing the Quality and Reliability of COVID-19 Information on Patient Organization Websites

This article employed a content analysis method utilizing the Centers for Disease Control and Prevention’s Clear Communication Index to evaluate the quality and reliability of 15 patient organization websites designed for patients to access information about COVID-19. The objective of this content analysis was to assess the clarity of online communication of information on COVID-19 by patient organizations by determining how well the websites score for clarity and identify ways to improve the websites. This study suggests that the patient organization websites that were analyzed are not adequately designed to communicate relevant information about COVID-19 in meaningful and effective ways. The findings from this study will help reveal major deficits in the communication of COVID-19 health information on patient organization websites, identify best practices and improvements that can be made to enhance communication, and build on existing literature regarding e-health literacy and clear communication on public health websites.