Understanding management strategies and barriers in Duchenne Muscular Dystrophy: Findings from the DMD-NEEDS Study

Topic:

Clinical Management

Poster Number: P71

Author(s):

Maria Branas, PharmD, Roche Farma, Spain, Ana Camacho, MD, 12 de Octubre Hospital, Madrid, Spain, Joaquin Alejandro Fernandez, MD, Reina Sofia Hospital, Córdoba, Spain, Marisol Montolio, Duchene Parent Project Spain, Jorge Maurino, MD, Roche Farma, Spain, Angeles Terrancle, Roche Farma, Spain, Elisa Guillen, Roche Farma, Spain, Carlos Ortez, MD, Sant Joan De Deu Hospital, Barcelona, Spain

Background: Duchenne muscular dystrophy (DMD) is a progressive X-linked neuromuscular condition that presents with variability in clinical presentation and management approaches. Although therapeutic advances have improved patient care, there remains a scarcity of data on healthcare practices and patient care pathways.

Objectives: The aim of this study was to assess the clinical management of DMD patients in Spain, identify gaps in care, and evaluate the diagnostic and therapeutic strategies employed by paediatric neurologists.

Methods: The DMD-NEEDS study was designed as a non-interventional, cross-sectional project in collaboration with the Spanish Society of Paediatric Neurology and Duchenne Parent Project. Information on diagnostic practices, patient demographics, clinical care, and therapeutic approaches was gathered using an electronic survey completed by participating clinicians.

Results: Forty-one paediatric neurologists responded to the survey, with most managing between 1 and 10 DMD patients and reporting an average of 13.3 years (SD 7.1) of experience in the field. In 53.7% of cases, diagnosis occurred between the ages of 2 and 3 years, and confirmation of diagnosis was achieved within six months in 46.3% of patients. Corticosteroids, particularly deflazacort, were the primary treatment prescribed in 95.1% of cases, typically initiated at 4–5 years of age (66.7%). Multidisciplinary care was available at 68.3% of centers, with frequent involvement of cardiologists (96.4%) and physiotherapists (85.7%). Key challenges identified included limited access to multidisciplinary care, delays in initiating treatment, and infrequent use of quality-of-life assessment tools, with 58.5% of clinicians reporting these were not part of routine practice.

Conclusion: Despite the early diagnosis of DMD and extensive use of corticosteroid therapy, significant barriers persist, including delayed treatment initiation, insufficient access to multidisciplinary teams, and underutilization of tools to assess quality of life. These results emphasize the urgent need for standardized care protocols and enhanced training for healthcare professionals to optimize the management of DMD.