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The Myotubular and Centronuclear Myopathy Registry is an international research database containing key longitudinal data on a diverse and growing cohort of individuals affected by this group of rare and ultra-rare neuromuscular conditions. It can inform and support all areas of translational research including epidemiological and natural history studies, clinical trial feasibility planning, recruitment for clinical trials or other research studies, stand-alone clinical studies, standards of care development, and provision of real-world evidence data. For ten years, it has also served as a valuable communications tool and provided a link between the scientific and patient communities. With the anticipated advent of disease-modifying therapies for these conditions, the registry is a key resource for the generation of post-authorisation data for regulatory decision-making, real world evidence, and patient-reported outcome measures. In this paper we present some key data from the current 444 registered individuals with the following genotype split: MTM1 n=270, DNM2 n=42, BIN1 n=4, TTN n=4, RYR1 n=12, other n=4, unknown n=108. The data presented are consistent with the current literature and the common understanding of a strong genotype/phenotype correlations in CNM, most notably the data supports the current knowledge that XLMTM is typically the most severe form of CNM. Additionally, we outline the ways in which the registry supports research, and, more generally, the importance of continuous investment and development to maintain the relevance of registries for all stakeholders. Further information on the registry and contact details are available on the registry website at www.mtmcnmregistry.org., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2023. Published by Elsevier B.V.)

Background: Facioscapulohumeral muscular dystrophy (FSHD) is a genetic disorder characterized by progressive muscle weakness leading to permanent disability. There are no curative treatments, however, there are several upcoming clinical trials testing new therapies in FSHD., Objective: This study aimed to explore the disease burden and patient preferences of people with FSHD to ensure that clinical trials can be designed to include outcome measures that are relevant and important to patients., Methods: A survey was developed with a steering committee clinicians and physiotherapists with relevant experience in the disease, patient representatives, a registry expert and industry consultants. Themes of the survey included; participant demographics, disease progression and impact on function, factors encouraging or discouraging clinical trial participation, and positive outcomes of a clinical trial., Results: 1147 participants responded to the online survey, representing 26 countries across Europe and a range of disease severities. The study highlighted the key symptoms causing concern for FSHD patients - muscle weakness and mobility issues - reflecting what participants want targeted for future therapies. The need for clear information and communication throughout clinical trials was emphasised. Factors most encouraging trial participation included access to new investigational therapies, access to trial results and benefits for the FSHD community. Factors most discouraging trial participation included travel related issues and fear of side effects., Conclusions: The results from this study identify the patient reported burden of FSHD and should provide researchers and industry with areas of therapeutic research that would be meaningful to patients, as well as supporting the development of patient centric outcome measures in clinical trials.

The COVID-19 pandemic highlighted major challenges in governance and inequalities particularly among those from Black, Asian and minority ethnic (BAME) groups. This paper focuses on the BAME community and explores this through a governance lens, with particular reference to the representation and functioning of boards involved in healthcare and building a transparent culture. To illustrate this, the paper utilises a series of structured reflective questions with model answers termed Right Question, Right Answer and links to the Centre for Quality in Governance (CQG) Maturity Matrix. This article highlights the need to improve diversity and accountability of health and care organisations to their staff and local population. For governance to be effective, it must be aligned and comply with healthcare system regulations to ensure improvement of legislative acts and standards. The paper aims to inform government policy by moving from rhetoric, or merely describing challenges, to action and change by increasing accountability., Competing Interests: This article presents independent research commissioned by the National Institute for Health Research (NIHR) under the Applied Health Research (ARC) programme for North West London. The views expressed in this publication are those of the authors and not necessarily those of the NHS, the NIHR or the Department of Health and Social Care.

The purpose of this paper is to accurately identify the future governance arrangements the NHS will follow, a close examination of the roles of Directors in implementing such a policy, and the National Policy documents that are required to put this in place.

Traces the development of benchmarking in a number of UK National Health Service trusts, highlighting practical processes and the benefits of benchmarking but also identifying common pitfalls and ways of handling them when they arise or, better still, anticipating them. Several examples of successful benchmarking initiatives are given, emphasizing the advantages of using a systematic benchmarking approach, using benchmarking clubs and the need to develop ad hoc performance measures. Concludes by emphasizing the need for a new commitment to continuous improvement by senior managers to avoid the failures of previous drives for improvement.