Exon Skipping Therapy in Duchenne Muscular Dystrophy

Introduction to Exon Skipping Therapy

• The American Academy of Neurology recommends glucocorticoids as the only medication with proven benefit for slowing muscle strength decline, prolonging ambulation, reducing scoliosis risk, and stabilizing pulmonary function in DMD patients, which should be initiated and maintained concurrently with exon skipping therapy 1, 2

Patient Management and Monitoring

• The American Heart Association recommends annual ECG and echocardiography, with cardiac MRI preferred for comprehensive assessment, to carefully evaluate cardiac function in DMD patients receiving exon-skipping therapy 3, 4
• The American Thoracic Society recommends pulmonary function testing every 6 months to monitor pulmonary status in DMD patients 5
• The American Academy of Physical Medicine and Rehabilitation recommends physical and occupational therapy assessments every 4 months to monitor functional outcomes in DMD patients 1

Cardiac Considerations

• Cardiac MRI with late gadolinium enhancement is preferred over echocardiography for assessing cardiac status, measuring degree and pattern of late gadolinium enhancement, myocardial strain, and extracellular volume in DMD patients receiving exon-skipping therapy 3