Translational research in the diagnosis and therapy of hereditary muscular diseases and national registry of neuromuscular diseases

Sažetak

Translational research enables transfer (translation) of basic laboratory, preclinical research to clinical practice, whereas results of clinical practice induce and direct further basic research. In the treatment of hereditary muscle diseases, pharmacological agents are used, while gene and stem cell therapies are still in the phase of clinical or preclinical trials. Standardization of models for testing therapeutic approaches, definition of certain diseases and definition of criteria for assessing therapeutic protocols and treatment efficiency represent a rational basis for clinical application of different therapeutic strategies. Completion of the European projects Translational Research in Europe – Assessment and Treatment of Neuromuscular Disorders (NMD-TREAT) and CARENMD has a very important role in the creation of uniform access to diagnostic and therapeutic procedures for patients with neuromuscular diseases. National registries have an important role in assessing the frequency, screening of patients, and planning of clinical trials of different therapeutic approaches including gene therapy, thereby contributing to improved quality of life and care of patients with neuromuscular diseases.