Congenital myopathies (CMYO) are a group of rare hereditary muscle diseases defined by characteristic abnormalities on muscle biopsy. Several types, including the core myopathies central core disease and multi-minicore disease, nemaline myopathy and centronuclear myopathy, have been identified based on the characteristic histopathological changes and attributed to various genetic backgrounds. The most prominent clinical features are generalised muscle weakness often pronounced axially, variable cardiorespiratory and bulbar impairment, and skeletal and joint involvement. Currently, no curative therapies are available for CMYOs; however, a few phase I and II trials have been performed or are expected in the near future. To reach trial readiness, an informed understanding of the disease course and a selection of relevant and sensitive clinical and functional outcome measures, and blood and imaging biomarkers is necessary. Furthermore, additional symptoms such as muscle fatigability have been recognised but not investigated systematically yet. The lack of understanding muscle fatigability in CMYO in particular calls for a cross-sectional study as this feature may be a treatment target.

In collaboration with patient representatives, two studies have been designed: (1) a prospective cohort study with five 6-monthly visits over a 2-year period; and (2) a cross-sectional study on muscle fatigability. For both studies, patients from the same study population will be included. We aim to include 45 patients in study 1 and 75 in study 2. Patients are invited to participate in both studies. In study 1, we will perform a range of assessments covering patient-reported outcomes, clinical and functional outcome measures, and blood and imaging biomarkers. For study 2, we will assess the muscle fatigability and neuromuscular junction transmission. Baseline data will be analysed using descriptive statistics and correlation analysis. To assess disease progression, mixed models will be used. Multiple linear regressions will be used to explore the relationship between potential disease-modifying variables and disease severity.

This study was approved by the Central Committee on Research Involving Human Subjects (CCMO, registration number NL83069.000.23). Findings will be shared with the participating patients and the funder. It will be presented at conferences and shared through peer-reviewed publications.

NCT06157268.

Loneliness and social isolation are critical public health issues linked to significant adverse health outcomes and increased healthcare utilisation, including visits to the emergency department (ED). The ED often serves as a primary societal safety net, providing care for vulnerable populations who may be disproportionately affected by these conditions. In fact, loneliness and social isolation might be the underlying reasons they presented to the ED in the first place either consciously or not. For such individuals, the ED encounter may represent a rare point of human contact, yet the stressful and depersonalising nature of the ED environment may paradoxically exacerbate their sense of isolation. Furthermore, ED staff may lack the training and awareness of the scope of the problem to properly screen for loneliness and address it. Yet, the compounded impact of the ED experience on lonely or socially isolated patients and the relationship between loneliness and healthcare utilisation remains poorly understood. This paper presents a protocol for a scoping review designed to systematically map the existing evidence on the experiences of these patients and the perspectives of the clinicians who care for them.

This scoping review will be conducted following the Arksey and O’Malley methodological framework in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews (PRISMA-ScR). The findings will be reported according to the Extension to the PRISMA Statement for Reporting Literature Searches in Systematic Reviews (PRISMA-S; see ). A comprehensive search will be performed across five electronic databases (PubMed, Embase, Scopus, Web of Science, CNKI) and grey literature sources. Studies published in English or Chinese that address loneliness or social isolation in the ED context, from the perspective of adult or paediatric patients or clinical staff, will be included. A novel, artificial intelligence (AI)-assisted screening process will be utilised for initial relevance assessment, followed by full manual screening and data extraction by two independent reviewers to ensure rigour and mitigate bias. Findings will be synthesised using a narrative approach and thematic analysis to identify key concepts, themes and existing gaps in the literature.

As this study synthesises data from previously published literature, it does not require formal ethical approval. The findings will be disseminated through a manuscript submitted to a peer-reviewed, open-access journal. The aim is to provide an evidence-based roadmap to guide future research, inform policy and support the development of interventions designed to improve care and outcomes for this vulnerable population within the acute care setting.

The review has been registered at Open Science Framework, DOI 10.17605/OSF.IO/MBVSR.