Transition and management of patients with Duchenne Muscular Dystrophy: a narrative review based on Italian experts' opinion and real-world experience.

Abstract

Duchenne Muscular Dystrophy (DMD) is a severe, progressive, X-linked disorder resulting in muscle wasting, progressive functional loss and cardiomyopathy. Therapeutic strategies feature glucocorticoid corticosteroids plus gene therapy/stop codon read-through, plus standards of care. Prolonged survival, delayed loss of ambulation (LoA), and innovative treatment prescriptions pose new clinical challenges, including identification of new outcome measures/targets and implementation of continuity of care. We report on the results of an Italian experts' meeting held in Rome, Italy on 20th April 2022. We aimed to: discuss challenges linked to transitioning from the ambulatory to the non-ambulatory phase, and from pediatric to adult care; collect experience on the importance of ongoing care and treatment in advanced disease stages and on the need to measure clinically relevant outcomes during disease progression after LoA. Following LoA the main management focus shifts to cardiac, respiratory, orthopaedics, nutrition and upper limbs function. More data on clinical needs, available treatments, standards of care, frequency of follow-up, and transition should be collected in order to facilitate management optimisation. Shared protocols should be developed, especially to improve patients' management in the acute setting. Transition from paediatric to adult services and from the ambulatory to the non-ambulatory phase require a multidisciplinary approach and the Identification of clinically meaningful outcome measures, which should be described in long-term longitudinal studies.