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This is a multicenter, longitudinal observational study aimed at characterizing the natural history of respiratory progression in adults with genetically confirmed Duchenne muscular dystrophy (DMD). The study will last 36 months and involve the retrospective and prospective collection of clinical, respiratory, motor, and genetic data from patients aged 18 years or older across 13 Italian centers. Respiratory function will be assessed through spirometry, inspiratory pressure measurements, and sleep studies. In a subgroup of patients, diaphragm ultrasound will be used to evaluate diaphragmatic function. Blood samples will be analyzed to identify genetic modifiers and inflammatory biomarkers associated with disease progression. The primary objective is to describe long-term respiratory progression in adults with DMD. Secondary objectives include validating new respiratory assessment metho
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…and 5 more on ClinicalTrials.gov.
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