Reviews

Volume XLIII, n. 3 - September 2024

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

Authors

Carlotta Spagnoli , Rachele Adorisio , Luca Bello , Adele D'Amico , Maria Grazia D'Angelo , Marika Pane , Martina Penzo , Pietro Riguzzi , Valeria Sansone , Andrea Vianello , Carlo Fusco

Key words: Duchenne muscular dystrophy, ataluren, loss of ambulation, transition
DOI: 10.36185/2532-1900-447
Publication Date: 2024-09-30

Abstract

Objectives. Duchenne Muscular Dystrophy (DMD) is a severe, progressive, X-linked disorder affecting muscle integrity and 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), innovative treatment prescriptions pose new clinical challenges, including identification of new outcome measures/targets and continuity of care.
Methods. We aimed to discuss challenges of transition 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 is on cardiac, respiratory and upper limbs function. Data on clinical needs, available treatments, standards of care, guidelines, frequency of follow-up, and transition should be collected in order to facilitate management optimisation. Shared protocols should be developed, especially for the acute setting.
Conclusions. Therapeutic continuity after LoA, its efficacy and safety and identification of clinically meaningful outcome measures should be identified and described in long-term longitudinal studies.

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Authors

Carlotta Spagnoli - Child Neurology Unit, Presidio Ospedaliero Provinciale Santa Maria Nuova, AUSLIRCCS di Reggio Emilia, Reggio Emilia, Italy

Rachele Adorisio - Heart Failure, Transplant and Mechanical Cardiocirculatory Support Unit, Department of Pediatric Cardiology and Cardiac Surgery, Heart Lung Transplantation, ERN GUARD HEART: Bambino Gesù Hospital and Research Institute, Rome, Italy.

Luca Bello - Department of Neurosciences, University of Padua, Padova, Veneto, Italy

Adele D'Amico - Department of Neuroscience, Catholic University, Rome, Italy

Maria Grazia D'Angelo - Istituto di Ricerca e Cura a Carattere Scientifico E. Medea, La Nostra Famiglia, Via don Luigi Monza 20, 23842 Bosisio Parini, Italy.

Marika Pane - Pediatric Neurology and Nemo Clinical Centre, Fondazione Policlinico Universitario A. Gemelli IRCSS, Università Cattolica del Sacro Cuore, Roma, Italy

Martina Penzo - Department of Neurosciences, University of Padua, Padua, Veneto, Italy

Pietro Riguzzi - Department of Neurosciences, University of Padua, Padua, Veneto, Italy

Valeria Sansone - Centro Clinico Nemo Milan, Neurorehabilitation Unit, Dipartimento di Scienze Biomediche della Salute, University of Milan, Milan, Italy

Andrea Vianello - Respiratory Pathophysiology Division, University of Padua, Padua, Italy

Carlo Fusco - Child Neurology Unit, Presidio Ospedaliero Provinciale Santa Maria Nuova, AUSLIRCCS di Reggio Emilia, Reggio Emilia, Italy

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Copyright

Copyright (c) 2024 Acta Myologica

How to Cite
Spagnoli, C., Adorisio, R., Bello, L., D’Amico, A., D’Angelo, M. G., Pane, M., Penzo, M., Riguzzi, P., Sansone, V., Vianello, A., & Fusco, C. (2024). Transition and management of patients with Duchenne Muscular Dystrophy: a narrative review based on Italian experts’ opinion and real-world experience. Acta Myologica, 43(3). https://doi.org/10.36185/2532-1900-447
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