Ahmad Mushtaha, ElRasoul Alaa, Sedayou Raneem, Tamboosi Mohammed, Mahroos Hanan, Alrashed Shaimaa, Tunkar Mariam, Alzahrani Faisal, Alharbi Mohammed, Aljehani Mona, Alahmari Mousa, Alqarni Khalid, Gashlan Maha, Yilmaz Berna Seker, Alshaikh Nahla M
Department of Pediatrics, Ministry of National Guard Health Affairs, Jeddah, Saudi Arabi.
King Abdullah International Medical Research Center, Jeddah, Saudi Arabia.
J Int Med Res. 2024 Dec;52(12):3000605241305252. doi: 10.1177/03000605241305252.
Duchenne muscular dystrophy (DMD) is a rare X-linked neurodegenerative disorder caused by mutations in the gene. This study examined the efficacy and safety of ataluren, the first oral treatment for DMD with nonsense mutations (nmDMD), in patients in the Middle East.
This retrospective longitudinal study assessed the outcomes of seven boys with nmDMD who received treatment with ataluren and follow-up at a single center since 2016.
The median patient age at treatment initiation was 8.04 years (range: 3.3-9.92), and the median duration of exposure was 3.95 years (interquartile range = 4.42 years). Five patients were still ambulatory at the last follow-up. Ataluren was more effective in individuals with baseline 6-min walking distance (6MWD) ≥300 m, as these patients had smaller declines in 6MWD and North Star Ambulatory Assessment scores. Pulmonary function was well preserved in all patients, with no patients having forced vital capacity <60% at their last follow-up. Six patients maintained normal cardiac function, whereas one patient developed heart failure before starting ataluren treatment.
Our results demonstrated both the efficacy and safety of ataluren. Early initiation of ataluren treatment delayed the loss of ambulation and cardiorespiratory milestones.
杜氏肌营养不良症（DMD）是一种由基因 突变引起的罕见X连锁神经退行性疾病。本研究考察了首个用于治疗无义突变型DMD（nmDMD）的口服药物阿他芦仑在中东地区患者中的疗效和安全性。
这项回顾性纵向研究评估了自2016年以来在单一中心接受阿他芦仑治疗并进行随访的7名nmDMD男孩的治疗结果。
开始治疗时患者的中位年龄为8.04岁（范围：3.3 - 9.92岁），中位暴露时间为3.95年（四分位间距 = 4.42年）。在最后一次随访时，5名患者仍可独立行走。阿他芦仑对基线6分钟步行距离（6MWD）≥300米的个体更有效，因为这些患者的6MWD和北极星步态评估得分下降幅度较小。所有患者的肺功能均得到良好保留，在最后一次随访时，没有患者的用力肺活量<60%。6名患者维持正常心功能，而1名患者在开始阿他芦仑治疗前出现心力衰竭。
我们的结果证明了阿他芦仑的疗效和安全性。早期开始阿他芦仑治疗可延缓独立行走能力丧失以及心肺功能里程碑事件的出现。
