Early treatment with Ataluren of a 2-year-old boy with nonsense mutation Duchenne dystrophy.
Early treatment with Ataluren of a 2-year-old boy with nonsense mutation Duchenne dystrophy.
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DOI：
10.36185/2532-1900-062
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发表时间：
2021-12
期刊：
影响因子：
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通讯作者：
Varone A
中科院分区：
文献类型：
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作者：
Bitetti I;Mautone C;Bertella M;Manna MR;Varone A
杜氏肌营养不良症（DMD）是由肌营养不良蛋白基因中的突变（在大多数情况下为缺失和重复）引起的X连锁肌病。点突变占13%，终止密码子突变更是罕见。Ataluren于2014年被批准用于治疗无义突变引起的DMD，多项临床试验证明了其有效性和安全性。然而，很少有真实的经验数据，特别是在儿科年龄。我们报告了一例2岁的非卧床儿童，其DMD由外显子76中的终止密码子突变c.10801C > T，p.Gln3601X引起，该儿童早期接受Ataluren治疗，剂量为40 mg/kg/d，肌肉力量、认知和社交技能均迅速改善。
Duchenne muscular dystrophy (DMD) is an X-linked myopathy caused by mutations, in most cases deletions and duplications, in the dystrophin gene. Point mutations account for 13% and stop codon mutations are even rarer. Ataluren was approved for the treatment of DMD caused by nonsense mutations in 2014, and several clinical trials documented its efficacy and safety. However, few real-life experience data is available, especially in pediatric age. We report the case of a 2-year- ambulant child affected by DMD caused by the stop-codon mutation c.10801C > T, p.Gln3601X in exon 76, who was early treated with Ataluren at a dosage of 40 mg/kg/die, and presented a rapid improvement in both muscle strength and cognitive and social skills.