Delphy study on epidemiology, clinical management, disease burden, and treatment in paediatric patients with Duchenne muscular dystrophy in Spain

Abstract

INTRODUCTION: Duchenne muscular dystrophy (DMD) is a rare hereditary disease caused by mutations in the DMD gene, leading to progressive muscle weakness and degeneration. METHODS: Twenty paediatric neurologists with expertise in the management of DMD at Spanish centres participated in this 2-round Delphi study. The first survey was based on a literature review, and answers were analysed by descriptive statistics. The prevalence and incidence of DMD were estimated using the number of patients reported by experts and the population covered by hospitals, and later extrapolated to the male population in Spain. RESULTS: An estimated 618 paediatric patients have been diagnosed with DMD in Spain. The age of diagnosis is around 3 (IQR 3-3.9) years and the age of initiation of glucocorticoid treatment is 5 (IQR 4-5) years. Loss of ambulation is estimated at 13 (IQR 12-13.5) years. Deflazacort is the most widely used treatment in Spain. The main adverse effects are growth delay, weight gain, bone metabolism problems, and Cushingoid appearance. CONCLUSION: The study reports updated data on the epidemiology and clinical management of DMD in Spain. It also highlights the importance of early diagnosis, multidisciplinary management and the need for a new therapy that improves the safety profile of traditional glucocorticoids to provide an improved quality of life for patients with DMD.