An observational study in Duchenne Muscular Dystrophy (DMD), Respiratory Function Decline and Restrictive Lung Disease, sponsored by Istituto Giannina Gaslini. Recruiting at 13 sites in Italy. Open to male participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2026-10-19.
Sponsored by Istituto Giannina Gaslini · Observational
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.
480 studies on the registry are indexed under Muscular Dystrophy, Duchenne; 109 are open to participants now.
This study's planned enrollment of 150 is above the median of 60 across 134 observational studies indexed under Muscular Dystrophy, Duchenne.
Browse Muscular Dystrophy, Duchenne studies →Istituto Giannina Gaslini is the lead sponsor of 50 studies on the registry; 33 are open to participants now.
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Adults aged 18 years or older with genetically confirmed Duchenne muscular dystrophy (DMD), recruited from 13 Italian neuromuscular centers.
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Exclusion Criteria:
Adults aged 18 years or older with genetically confirmed Duchenne muscular dystrophy, not enrolled in interventional clinical trials, who provide informed consent. Clinical, motor, respiratory, and genetic data will be collected retrospectively and prospectively over 36 months. Assessments include spirometry, inspiratory pressure measurements, overnight respiratory and sleep studies, and, in a subgroup, diaphragm ultrasound. Blood samples will be analyzed to identify genetic modifiers and inflammatory biomarkers associated with respiratory disease progression. No experimental intervention is planned; the study is observational.
Characterization of Respiratory Progression in Adults with Duchenne Muscular Dystrophy
Longitudinal characterization of respiratory disease progression through the collection of clinical, respiratory, motor, and genetic data, including changes in forced vital capacity (FVC), FVC percentage predicted, and sniff nasal inspiratory pressure (SNIP).
Time frame: 36 months; retrospective data collected from the earliest available assessment and prospective respiratory and motor assessments performed every 6 months.
Association of Motor, Respiratory, and Genetic Factors with Respiratory Failure
Assessment of the association between motor function, respiratory parameters, and DMD gene mutations and the risk of respiratory failure, defined by the need for non-invasive ventilation (NIV) and/or nocturnal hypoventilation, or severe restrictive lung disease defined as FVC percentage predicted below 50%.
Time frame: 36 months; respiratory and motor assessments every 6 months.
Validation of Diaphragm Ultrasound in Adults with Duchenne Muscular Dystrophy
Validation of diaphragm ultrasound by comparing diaphragm thickening fraction, thickness, and excursion in patients with DMD and healthy controls, and assessing their association with respiratory function, motor function, and DMD gene mutations.
Time frame: During the 36-month study period; ultrasound assessments in the designated subgroup and healthy controls.
Development of a Composite Clinical and Genetic Severity Score
Development of a composite score classifying patients according to mild, moderate, or severe disease and their risk of developing respiratory failure or severe restrictive lung disease (FVC percentage predicted below 50%), based on clinical and genetic variables.
Time frame: Within the 36-month study period, using collected clinical, motor, respiratory, and genetic data.
Identification of Genetic and Serum Biomarkers of Respiratory Disease Progression
Evaluation of the prognostic role of genetic modifiers and serum inflammatory biomarkers, including IL-6, IL-10, IL-1β, IL-12, TNF-α, TGF-β, VCAM-1, and ICAM-1, and their association with annual changes in FVC percentage predicted and the risk of respiratory failure or severe restrictive lung disease.
Time frame: 36 months; genetic samples collected once and serum inflammatory biomarkers collected annually.
Development of a Predictive Algorithm for Respiratory Disease Progression
Development of predictive models to estimate individual risk and progression rate for respiratory failure requiring NIV, nocturnal hypoventilation, and severe restrictive lung disease (FVC percentage predicted below 50%), based on clinical, motor, respiratory, and genetic predictors.
Time frame: By the end of the 36-month study period, using retrospective and prospectively collected data.
Plan to share: Undecided
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From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
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Muscular Dystrophy, Duchenne →
Istituto Giannina Gaslini