Safety and effectiveness of ataluren in patients with Duchenne muscular dystrophy: single-center experience from Saudi Arabia.

IF 1.4 4区 医学 Q4 MEDICINE, RESEARCH & EXPERIMENTAL
Mushtaha Ahmad, Alaa ElRasoul, Raneem Sedayou, Mohammed Tamboosi, Hanan Mahroos, Shaimaa Alrashed, Mariam Tunkar, Faisal Alzahrani, Mohammed Alharbi, Mona Aljehani, Mousa Alahmari, Khalid Alqarni, Maha Gashlan, Berna Seker Yilmaz, Nahla M Alshaikh
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引用次数: 0

Abstract

Objective: Duchenne muscular dystrophy (DMD) is a rare X-linked neurodegenerative disorder caused by mutations in the DMD 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.

Methods: 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.

Results: 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.

Conclusions: Our results demonstrated both the efficacy and safety of ataluren. Early initiation of ataluren treatment delayed the loss of ambulation and cardiorespiratory milestones.

ataluren治疗杜氏肌营养不良患者的安全性和有效性:来自沙特阿拉伯的单中心经验。
目的:杜氏肌营养不良症(DMD)是一种罕见的由DMD基因突变引起的x连锁神经退行性疾病。本研究检测了阿塔卢伦(ataluren)在中东患者中的疗效和安全性,阿塔卢伦是治疗无意义突变DMD (nmDMD)的第一种口服药物。方法:本回顾性纵向研究评估了自2016年以来在单一中心接受ataluren治疗和随访的7名nmDMD男孩的结局。结果:患者开始治疗时的中位年龄为8.04岁(范围:3.3-9.92),中位暴露时间为3.95年(四分位数间距= 4.42年)。最后一次随访时,5例患者仍可走动。Ataluren对基线6分钟步行距离(6MWD)≥300 m的个体更有效,因为这些患者的6MWD和North Star动态评估评分下降较小。所有患者的肺功能均得到很好的保存,没有患者出现强迫肺活量。结论:我们的研究结果证明了阿塔卢伦的有效性和安全性。早期开始非肺活量治疗可延迟行走和心肺里程碑的丧失。
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来源期刊
CiteScore
3.20
自引率
0.00%
发文量
555
审稿时长
1 months
期刊介绍: _Journal of International Medical Research_ is a leading international journal for rapid publication of original medical, pre-clinical and clinical research, reviews, preliminary and pilot studies on a page charge basis. As a service to authors, every article accepted by peer review will be given a full technical edit to make papers as accessible and readable to the international medical community as rapidly as possible. Once the technical edit queries have been answered to the satisfaction of the journal, the paper will be published and made available freely to everyone under a creative commons licence. Symposium proceedings, summaries of presentations or collections of medical, pre-clinical or clinical data on a specific topic are welcome for publication as supplements. Print ISSN: 0300-0605
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