Abstract：
The design of a clinical trial for a rare disease can be challenging. An optimal study design is required to effectively study the clinical outcomes for possible therapies for these types of disorders. Understanding the study participants\' experiences as well as barriers and facilitators of participation are important to optimize future research and to inform clinical trial management. Centronuclear myopathies (CNMs) including X-linked myotubular myopathy (XLMTM) are a group of rare congenital myopathies for which there is no cure currently. Since 2014, a number of natural history studies and clinical trials have been conducted in CNMs. Two trials have been prematurely terminated because of severe adverse events. Since no research has been conducted regarding trial experience in CNM, we performed a scoping literature research on clinical trial experience of patients with neuromuscular disorders in general. The most common barriers to trial participation of patients comprise concerns about potential harmful effects, opportunity loss and the expected burden on daily life. The most common facilitators were an expected benefit on the disease course, altruism and collateral benefit. While several results are in line with trial experiences of other types of patients, for example oncological patients, distinctions can be made for patients with CNM and other neuromuscular disorders. However, the limited availability of relevant literature suggests that future (qualitative) research should focus on trial experiences in CNM patients.
摘要：
针对罕见疾病的临床试验的设计可能具有挑战性。需要最佳的研究设计来有效研究这些类型疾病的可能治疗的临床结果。了解研究参与者的经验以及参与的障碍和促进因素对于优化未来研究和指导临床试验管理非常重要。包括X连锁肌管肌病（XLMTM）在内的中央核肌病（CNM）是一组罕见的先天性肌病，目前尚无治愈方法。自2014年以来，在CNMs中进行了多项自然史研究和临床试验，其中有两项试验因严重不良事件而提前终止。由于没有进行过关于CNM试验经验的研究，我们对一般神经肌肉疾病患者的临床试验经验进行了范围研究文献研究.患者参与试验的最常见障碍包括对潜在有害影响的担忧，机会损失和日常生活的预期负担。最常见的促进因素是对疾病进程的预期益处，利他主义和附带利益。虽然一些结果与其他类型患者的试验经验一致，例如肿瘤患者，对于患有CNM和其他神经肌肉疾病的患者可以进行区分。然而,相关文献的有限可用性表明,未来的(定性)研究应侧重于CNM患者的试验经验.
