Fontanelli Lorenzo, Vadi Gabriele, Bellini Gabriele, Cossu Andrea, Siciliano Gabriele
Health Science Interdisciplinary Center, Sant'Anna School of Advanced Studies, Piazza Martiri Della Libertà 33, 56127, Pisa, Italy.
Neurology Unit, Department of Clinical and Experimental Medicine, University of Pisa, Via Roma 55, 56126, Pisa, Italy.
J Neurol. 2025 Jun 30;272(7):483. doi: 10.1007/s00415-025-13208-8.
We conducted a systematic analysis of studies on neuromuscular diseases registered on ClinicalTrials.gov over the last 20 years to assess disparities in study populations.
Data from interventional and observational neuromuscular disease studies initiated between January 1, 2004, and December 31, 2024, were retrieved from ClinicalTrials.gov and PubMed/MEDLINE. Collected variables included participant race, ethnicity, sex, eligible age range, mean and median ages, as well as study funding source, start year, and phase. These variables were analyzed to evaluate disparities in race, ethnicity, and age across studies and over time.
A total of 2166 studies were screened, with 462 meeting inclusion criteria, encompassing data from 37,131 participants. Most participants were male (61.4%), White (83.5%), and non-Hispanic/Latino (87.6%). While the proportion of studies reporting race and ethnicity increased over time (p < 0.001 and p = 0.001, respectively), the racial and ethnic composition of participants remained unchanged (p = 1). Studies on X-linked recessive disorders (i.e., Duchenne muscular dystrophy (DMD), Becker muscular dystrophy, and spinal and bulbar muscular atrophy (SMA)) predominantly excluded female participants. Regarding age accessibility, 37.9% of studies allowed children. Similarly, trial accessibility for older adults was limited. Even in studies with broader age eligibility, mean and median participant ages clustered around midlife, with underrepresentation at both age extremes. Notably, about half of DMD and SMA studies excluded participants over 16 and 18 years, respectively.
Significant disparities persist in race, ethnicity, and age representation in neuromuscular disease clinical research, highlighting the need for more inclusive study designs.
我们对过去20年在ClinicalTrials.gov上注册的神经肌肉疾病研究进行了系统分析，以评估研究人群中的差异。
从ClinicalTrials.gov和PubMed/MEDLINE检索2004年1月1日至2024年12月31日启动的介入性和观察性神经肌肉疾病研究的数据。收集的变量包括参与者的种族、民族、性别、符合条件的年龄范围、平均年龄和中位数年龄，以及研究资金来源、开始年份和阶段。对这些变量进行分析，以评估不同研究之间以及随时间推移在种族、民族和年龄方面的差异。
共筛选了2166项研究，其中462项符合纳入标准，涵盖37131名参与者的数据。大多数参与者为男性（61.4%）、白人（83.5%）和非西班牙裔/拉丁裔（87.6%）。虽然报告种族和民族的研究比例随时间增加（分别为p<0.001和p=0.001），但参与者的种族和民族构成保持不变（p=1）。关于X连锁隐性疾病（即杜氏肌营养不良症（DMD）、贝克肌营养不良症以及脊髓性肌萎缩症（SMA））的研究主要排除了女性参与者。在年龄可及性方面，37.9%的研究允许儿童参与。同样，老年人参与试验的机会有限。即使在年龄资格范围更广的研究中，参与者的平均年龄和中位数年龄也集中在中年左右，两个极端年龄段的代表性不足。值得注意的是，大约一半的DMD和SMA研究分别排除了16岁和18岁以上的参与者。
神经肌肉疾病临床研究在种族、民族和年龄代表性方面仍然存在显著差异，这凸显了需要更具包容性的研究设计。
