肌管和中央核肌病注册是一个国际研究数据库,其中包含受这组罕见和超罕见神经肌肉疾病影响的多样化和不断增长的个体队列的关键纵向数据。它可以为转化研究的所有领域提供信息和支持,包括流行病学和自然史研究,临床试验可行性规划,招募临床试验或其他研究研究,独立的临床研究,护理发展标准,并提供真实世界的证据数据。十年来,它也是一个有价值的沟通工具,并在科学界和病人社区之间建立联系。随着这些疾病的改善疗法的预期出现,登记册是生成监管决策授权后数据的关键资源,真实世界的证据,和患者报告的结果指标。在本文中,我们提供了来自当前444个注册个体的一些关键数据,这些个体具有以下基因型:MTM1n=270,DNM2n=42,BIN1n=4,TTNn=4,RYR1n=12,其他n=4,未知n=108。所提供的数据与当前文献以及对CNM中强烈的基因型/表型相关性的共同理解一致,最值得注意的是,数据支持当前的知识,即XLMTM通常是最严重的CNM形式。此外,我们概述了注册中心支持研究的方式,and,更一般地说,持续投资和发展对保持登记册对所有利益攸关方的相关性的重要性。有关注册表和联系方式的更多信息,请访问注册表网站www。mtmcnmregistry.org.
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.