Respiratory Progression in Adults With Duchenne Muscular Dystrophy.

Brief summary (registry, in English)

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 methods, investigating the relationship between motor function, genetic factors, and respiratory decline, and identifying prognostic biomarkers. The study aims to develop an open-source predictive algorithm to estimate individual risk of severe restrictive lung disease and respiratory failure requiring non-invasive ventilation, supporting personalized respiratory monitoring and clinical management.

What you commit to

• Study type: Observational
• Planned participants: 150
• From Sept 2025 to the primary completion date, Jan 2028
• 13 sites in 1 country
• Visits and tests: ask the trial team, the registry does not list them

Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.

Who cannot take part

Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.

Who the study is looking for

Age in the registry: 18 years to - · Sex: Male · Does not accept healthy volunteers

Full criteria on ClinicalTrials.gov

Sites (13)

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