Duchenne muscular dystrophy in Italy: A systematic review of epidemiology, quality of life, treatment adherence, and economic impact.

Objective: This systematic review aims to update the evidence on Duchenne muscular dystrophy (DMD) in Italy, describing the epidemiology, quality of life (QoL) of patients and caregivers, treatment adherence, and economic impact of DMD.
Methods: Systematic searches were conducted in PubMed, Embase and Web of Science up to January 2023. Literature selection process, data extraction and quality assessment were performed by two independent reviewers. Study protocol was registered in PROSPERO (CRD42021245196).
Results: Thirteen studies were included. The prevalence of DMD in the general population is 1.7-3.4 cases per 100,000, while the birth prevalence is 21.7-28.2 per 100,000 live male births. The QoL of DMD patients and caregivers is lower than that of healthy subjects, and the burden for caregivers of DMD children is higher than that of caregivers of children with other neuromuscular disorders. The compliance of real-world DMD care to clinical guidelines recommendations in Italy is lower than in other European countries. The annual cost of illness for DMD in Italy is € 35,000-46,000 per capita while, adding intangible costs, the total cost amounts to € 70,000.
Conclusion: Although it is a rare disease, DMD represents a significant burden in terms of quality of life of patients and their caregivers, and economic impact.
Competing Interests: I have read the journal’s policy and the authors of this manuscript have the following competing interests: Barbara Polistena declares to have received in the last 5 years payments or honoraria for lectures, presentations, speakers bureaus, manuscript writing or educational events from the following commercial sources: Allergan, Amgen, Astellas, BMS, Boehringer-Ingelheim, Celgene, Eli Lilly, Janssen Cilag, Nestle´ HS, Novartis, Novo Nordisk, Pfizer, Roche, Sanofi, Servier, Shire, Takeda, Teva; in addition, she received consulting fees from UCB. Federico Spandonaro declares to have received in the last 5 years payments or honoraria for lectures, presentations, speakers bureaus, manuscript writing or educational events from the following commercial sources: Allergan, Amgen, Astellas, Baxter, BMS, Boehringer-Ingelheim, Celgene, Eli Lilly, Janssen Cilag, Jazzpharma, Mylan, Nestle´ HS, Novartis, Novo Nordisk, Pfizer, Roche, Sanofi, Servier, Shire, Takeda, Teva; in addition, he received consulting fees from Amgen. Marika Pane declares to have received consulting fees for this paper from Pfizer. Eleonora Russo, Francesca Gatto, and Mauro Monterubbianesi are employees of Pfizer. All other authors declare that they have no competing interests.
(Copyright: © 2023 Orso et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)