Burden of Duchenne Muscular Dystrophy in Italy: A Multicenter Cost of Illness Study
Author(s)
Ippazio Cosimo Antonazzo, PhD1, Carla Fornari, PhD1, Paolo Cozzolino, B.Sc1, Marika Pane, MD2, Valeria Sansone, MD3, Eugenio Mercuri, MD2, Elena Pegoraro, MD4, Michela Catteruccia, MD5, Luca Mauro, MD6, Emilio Albamonte, MD6, Luca Bello, MD4, Adele D'amico, MD5, Lorenzo G Mantovani, ScD1, Paolo Angelo Cortesi, PhD1.
1Research Centre on Public Health (CESP), University of Milano-Bicocca, Monza, Italy, 2Child Neurology and Psychiatry Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy, 3The NEMO Clinical Center in Milan; Neurorehabilitation Unit, University of Milan, Milano, Italy, 4Department of Neurosciences DNS, University of Padova, Padova, Italy, 5Unit of Muscular and Neurodegenerative Diseases, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy, 6The NEMO Clinical Center in Milan, Milan, Italy.
1Research Centre on Public Health (CESP), University of Milano-Bicocca, Monza, Italy, 2Child Neurology and Psychiatry Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy, 3The NEMO Clinical Center in Milan; Neurorehabilitation Unit, University of Milan, Milano, Italy, 4Department of Neurosciences DNS, University of Padova, Padova, Italy, 5Unit of Muscular and Neurodegenerative Diseases, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy, 6The NEMO Clinical Center in Milan, Milan, Italy.
OBJECTIVES: Duchenne Muscular Dystrophy (DMD) is a rare neurodegenerative disease that imposes a substantial burden. This study aimed to assess the clinical and non-clinical burden of DMD from the perspective of the Italian National Healthcare System (NHS).
METHODS: An observational, multicentre, cross-sectional study is ongoing across five Italian DMD centres. Data on ambulatory and non-ambulatory patients, including clinical, demographic, and healthcare service use, were collected via questionnaire. Preliminary data from an interim analysis, using appropriate descriptive statistical methods for both patient groups were reported.
RESULTS: Twelve patients were included: 2 ambulatory and 10 non-ambulatory. The mean age of ambulatory patients was 16.00 years (SD: 2.83), and 21.10 years (SD: 5.84) for non-ambulatory patients. 50% of ambulatory patients had completed lower secondary education; among non-ambulatory patients 40% completed lower and 40% upper secondary education. All patients live with parents. All ambulatory patients were Stage 2. Half were unable to perform the “Time to Rise from Floor” test; the others completed the 6-Minute Walk and 10-Meter Walk/Run tests. Median NSAA was 5.00 (IQR: 3.50-6.50). Non-ambulatory patients ranged from Stage 4 to 8. Nine completed the Upper Limb Module, median NSAA 0.00 (IQR: 0.00-0.25). In the previous year, 80% of non-ambulatory patients were hospitalized, totalling 88 nights (across internal medicine, neurology, and surgery wards). High healthcare utilization was reported in non-ambulatory patients, including medical consultations and diagnostics tests such as ECGs (80%), pulmonary function tests (70%) and other such as CT scans, MRIs, and DEXA. All ambulatory patients used assistive devices and adapted vehicles; most non-ambulatory used wheelchairs and home modifications.
CONCLUSIONS: The preliminary findings provide a glimpse into the considerable burden of DMD, emphasizing the urgent unmet need for disease-modifiers and a broader societal intervention to mitigate its impact.
METHODS: An observational, multicentre, cross-sectional study is ongoing across five Italian DMD centres. Data on ambulatory and non-ambulatory patients, including clinical, demographic, and healthcare service use, were collected via questionnaire. Preliminary data from an interim analysis, using appropriate descriptive statistical methods for both patient groups were reported.
RESULTS: Twelve patients were included: 2 ambulatory and 10 non-ambulatory. The mean age of ambulatory patients was 16.00 years (SD: 2.83), and 21.10 years (SD: 5.84) for non-ambulatory patients. 50% of ambulatory patients had completed lower secondary education; among non-ambulatory patients 40% completed lower and 40% upper secondary education. All patients live with parents. All ambulatory patients were Stage 2. Half were unable to perform the “Time to Rise from Floor” test; the others completed the 6-Minute Walk and 10-Meter Walk/Run tests. Median NSAA was 5.00 (IQR: 3.50-6.50). Non-ambulatory patients ranged from Stage 4 to 8. Nine completed the Upper Limb Module, median NSAA 0.00 (IQR: 0.00-0.25). In the previous year, 80% of non-ambulatory patients were hospitalized, totalling 88 nights (across internal medicine, neurology, and surgery wards). High healthcare utilization was reported in non-ambulatory patients, including medical consultations and diagnostics tests such as ECGs (80%), pulmonary function tests (70%) and other such as CT scans, MRIs, and DEXA. All ambulatory patients used assistive devices and adapted vehicles; most non-ambulatory used wheelchairs and home modifications.
CONCLUSIONS: The preliminary findings provide a glimpse into the considerable burden of DMD, emphasizing the urgent unmet need for disease-modifiers and a broader societal intervention to mitigate its impact.
Conference/Value in Health Info
2025-11, ISPOR Europe 2025, Glasgow, Scotland
Value in Health, Volume 28, Issue S2
Code
RWD26
Topic
Epidemiology & Public Health, Health Service Delivery & Process of Care, Real World Data & Information Systems
Disease
Musculoskeletal Disorders (Arthritis, Bone Disorders, Osteoporosis, Other Musculoskeletal), Neurological Disorders, No Additional Disease & Conditions/Specialized Treatment Areas, Pediatrics, Rare & Orphan Diseases