Therapeutic opportunities and clinical outcome measures in Duchenne muscular dystrophy

Introduction 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. Discussion 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. Conclusions 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.

Automated summary

This article introduces Duchenne muscular dystrophy (DMD) and its research progress, emphasizing the importance of clinical trials and calling for more efforts in developing outcome measures that can evaluate clinical benefits.