1. Transition and management of patients with Duchenne Muscular Dystrophy: a narrative review based on Italian experts' opinion and real-world experience.
- Author
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Spagnoli C, Adorisio R, Bello L, D'Amico A, D'Angelo MG, Pane M, Penzo M, Riguzzi P, Sansone V, Vianello A, and Fusco C
- Subjects
- Humans, Italy, Transition to Adult Care, Disease Management, Disease Progression, Muscular Dystrophy, Duchenne therapy
- Abstract
Objectives: 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., Methods: We report on the results of an Italian experts' meeting held in Rome, Italy on 20
th 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., Results: 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., Conclusions: 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., (Copyright © 2024 Gaetano Conte Academy - Mediterranean Society of Myology.)- Published
- 2024
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