Introduction: While clinical guidelines for Duchenne muscular dystrophy (DMD) exist, there is limited updated information on their real-world implementation in Spain. The DMD-NEEDS study aimed to describe the current landscape of DMD management, identify positive trends, and highlight key areas for improvement.
Methods: This was a non-interventional, cross-sectional, multicenter study based on an electronic survey completed by 41 pediatric neurologists who manage DMD patients in Spain. The survey collected data on the patient journey, from referral and diagnosis to treatment and multidisciplinary management.
Results: A total of 41 pediatric neurologists participated in the survey, of whom 56.1% were female, with a mean experience of 13.3 years in managing Duchenne muscular dystrophy (DMD) patients. The findings indicate a positive trend toward early diagnosis, with most patients (73.2%) diagnosed between ages 2 and 3 and 46.3% confirmed within 6 months of symptom onset. Primary care was the main referral source (73.2%), and corticosteroid therapy is the standard of care, prescribed by 95.1% of participants and typically initiated at age 4-5 (66.7%). Disease progression was consistent with DMD’s natural history, with loss of ambulation occurring between ages 11-13 (53.7%). While multidisciplinary care was available in 68.3% of centers, a significant gap remains. A high proportion of neurologists (87.8%) were willing to recommend gene therapy for eligible patients. Key areas for improvement include limited access to multidisciplinary care and the underuse of quality of life assessment tools (58.5% of participants reported not using them).
Conclusion: The study reveals an encouraging standard of care for DMD in Spain, characterized by early diagnosis and high corticosteroid use. These findings provide a solid foundation for developing standardized protocols to address identified gaps, such as access to multidisciplinary teams and the integration of patient-centered assessments, to further optimize patient outcomes in clinical practice