Pediatric Neurology, Department of Woman and Child Health and Public Health, Child Health Area, Università Cattolica del Sacro Cuore, Rome, Italy.
Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
PLoS One. 2021 Jun 25;16(6):e0253882. doi: 10.1371/journal.pone.0253882. eCollection 2021.
The aim of this study was to report 36-month longitudinal changes using the North Star Ambulatory Assessment (NSAA) in ambulant patients affected by Duchenne muscular dystrophy amenable to skip exons 44, 45, 51 or 53.
We included 101 patients, 34 had deletions amenable to skip exon 44, 25 exon 45, 19 exon 51, and 28 exon 53, not recruited in any ongoing clinical trials. Five patients were counted to skip exon 51 and 53 since they had a single deletion of exon 52.
The difference between subgroups (skip 44, 45, 51 and 53) was significant at 12 (p = 0.043), 24 (p = 0.005) and 36 months (p≤0.001).
Mutations amenable to skip exons 53 and 51 had lower baseline values and more negative changes than the other subgroups while those amenable to skip exon 44 had higher scores both at baseline and at follow up.
Our results confirm different progression of disease in subgroups of patients with deletions amenable to skip different exons. This information is relevant as current long term clinical trials are using the NSAA in these subgroups of mutations.
本研究旨在报告使用 North Star 动态评估（NSAA）在可跳过外显子 44、45、51 或 53 的 Duchenne 肌营养不良症患者中的 36 个月纵向变化。
我们纳入了 101 名患者，其中 34 名患者的缺失可跳过外显子 44，25 名患者的缺失可跳过外显子 45，19 名患者的缺失可跳过外显子 51，28 名患者的缺失可跳过外显子 53，这些患者均未参加任何正在进行的临床试验。由于他们有一个外显子 52 的单一缺失，因此有 5 名患者被计入可跳过外显子 51 和 53。
亚组（跳过 44、45、51 和 53）之间的差异在 12 个月（p = 0.043）、24 个月（p = 0.005）和 36 个月（p≤0.001）时具有统计学意义。
可跳过外显子 53 和 51 的突变的基线值较低，且在随访过程中的变化更为负面，而可跳过外显子 44 的突变则具有更高的基线值和随访值。
我们的结果证实了可跳过不同外显子的缺失的患者亚组的疾病进展情况不同。由于目前的长期临床试验正在这些突变的亚组中使用 NSAA，因此这些信息是相关的。
