Patients having Duchenne muscular dystrophy (DMD) are currently being treated with corticosteroids, which slow down disease progression at the expense of serious adverse effects. Tamoxifen is a pro-drug some of whose metabolites interact with the nuclear estrogen receptor, leading to anti-fibrotic and muscle-protective effects as has been demonstrated in a murine model of DMD. Here we report the results from a monocentric single arm prospective study in 13 ambulant boys aged 6–14 years with genetically confirmed DMD, aimed to assess the safety of tamoxifen and its impact on disease progression. Boys were treated for up to 3 years with 20 mg/day of oral tamoxifen, in addition to their ongoing corticosteroid treatment. For 8 of these patients, outcome was compared to an age- and performance-matched 12-month natural history dataset. The primary end point was the 6-minute walk test. Secondary end points were the NorthStar assessment, timed function tests, pulmonary function, the biomarker creatine phosphokinase and adverse effects. No adverse effects were noticed other than mild gynecomastia in 4 boys. Tamoxifen-treated patients retained motor and respiratory function, compared with a significant deterioration of age-matched historical control patients receiving corticosteroids only. These encouraging findings warrant a larger clinical trial to substantiate the use of tamoxifen in Duchenne muscular dystrophy.

患有 Duchenne 肌营养不良症 (DMD) 的患者目前正在接受皮质类固醇治疗，皮质类固醇可以减缓疾病进展，但会产生严重的副作用。他莫昔芬是一种前药，其中一些代谢物与核雌激素受体相互作用，从而产生抗纤维化和肌肉保护作用，正如 DMD 小鼠模型所证明的那样。在这里，我们报告了一项单中心单臂前瞻性研究的结果，该研究对 13 名年龄在 6-14 岁的可走动男孩进行了遗传证实的 DMD，旨在评估他莫昔芬的安全性及其对疾病进展的影响。除了正在进行的皮质类固醇治疗外，男孩还接受了 20 毫克/天的口服他莫昔芬治疗长达 3 年。其中 8 名患者的结果与年龄和表现匹配的 12 个月自然史数据集进行了比较。主要终点是 6 分钟步行测试。次要终点是 NorthStar 评估、定时功能测试、肺功能、生物标志物肌酸磷酸激酶和不良反应。除 4 名男孩轻度男性乳房发育外，未发现任何不良反应。与仅接受皮质类固醇的年龄匹配的历史对照患者相比，他莫昔芬治疗的患者保留了运动和呼吸功能。这些令人鼓舞的发现值得进行更大规模的临床试验，以证实他莫昔芬在杜氏肌营养不良症中的应用。与仅接受皮质类固醇的年龄匹配的历史对照患者相比，他莫昔芬治疗的患者保留了运动和呼吸功能。这些令人鼓舞的发现值得进行更大规模的临床试验，以证实他莫昔芬在杜氏肌营养不良症中的应用。与仅接受皮质类固醇的年龄匹配的历史对照患者相比，他莫昔芬治疗的患者保留了运动和呼吸功能。这些令人鼓舞的发现值得进行更大规模的临床试验，以证实他莫昔芬在杜氏肌营养不良症中的应用。