RESUMO
BACKGROUND: The possibilities in the field of molecular therapies of neuromuscular diseases have rapidly developed in recent years. First compounds are already available in clinical practice and numerous other substances are in advanced phases of clinical trials. This article gives an exemplary overview of the current state of clinical research in molecular therapies of neuromuscular diseases. It also gives a view into the near future of the clinical application, including the challenges. DISCUSSION: Using Duchenne muscular dystrophy (DMD) and myotubular myopathy as examples, the principles of gene addition in monogenetic skeletal muscle diseases, which are already manifested in childhood are described. In addition to initial successes, the challenges and setbacks hindering the approval and regular clinical application of further compounds are demonstrated. Furthermore, the state of current clinical research in Becker-Kiener muscular dystrophy (BMD) and the numerous forms of limb-girdle muscular dystrophy (LGMD) are summarized. Numerous new therapeutic approaches and a corresponding outlook are also shown for facioscapulohumeral muscular dystrophy (FSHD), Pompe disease, and myotonic dystrophy. CONCLUSION: Clinical research in the field of molecular therapy of neuromuscular diseases is one of the pacesetters of modern precision medicine; however, challenges need to be seen, jointly addressed and overcome in the future.
