Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
Department of Neurosciences, University of Padua, Padua, Italy.
Neurol Sci. 2022 Dec;43(Suppl 2):625-633. doi: 10.1007/s10072-022-06085-w. Epub 2022 May 24.
Duchenne muscular dystrophy (DMD) is a devastatingly severe genetic muscle disease characterized by childhood-onset muscle weakness, leading to loss of motor function and premature death due to respiratory and cardiac insufficiency.
In the following three and half decades, DMD kept its paradigmatic role in the field of muscle diseases, with first systematic description of disease progression with ad hoc outcome measures and the first attempts at correcting the disease-causing gene defect by several molecular targets. Clinical trials are critical for developing and evaluating new treatments for DMD.
In the last 20 years, research efforts converged in characterization of the disease mechanism and development of therapeutic strategies. Same effort needs to be dedicated to the development of outcome measures able to capture clinical benefit in clinical trials.
杜氏肌营养不良症（DMD）是一种严重的遗传性肌肉疾病，其特征是儿童期开始出现肌肉无力，导致运动功能丧失，并因呼吸和心脏功能衰竭而提前死亡。
在接下来的三十五年中，DMD 在肌肉疾病领域仍然具有典范作用，首先用特定的结果测量方法系统地描述了疾病进展，并首次尝试通过多个分子靶点纠正致病基因缺陷。临床试验对于开发和评估 DMD 的新治疗方法至关重要。
在过去的 20 年中，研究工作集中在疾病机制的表征和治疗策略的开发上。同样需要致力于开发能够在临床试验中捕捉临床获益的结果测量方法。
