Respiratory Progression in Adults With Duchenne Muscular Dystrophy.
Key facts
- Where
- Bologna, Bosisio Parini, Calambrone, Genova, Messina, Milan, Padova, Pavia, Pisa, Roma és Torino, OlaszországSee the 13 sites
Where in Olaszország
- Istituto delle Scienze Neurologiche di Bologna - IRCCSBologna, OlaszországTaking people
- Associazione La Nostra Famiglia Eugenio Medea - IRCCSBosisio Parini, OlaszországTaking people
- Fondazione Stella Maris - IRCCSCalambrone, OlaszországTaking people
- IRCCS Istituto Giannina GasliniGenova, OlaszországTaking people
- Azienda Ospedaliera Policlinico Universitario "G. Martino"Messina, OlaszországTaking people
- Centro Clinico NemoMilan, OlaszországTaking people
- Fondazione Istituto Neurologico Carlo Besta - IRCCSMilan, OlaszországTaking people
- Università Vita-Salute San RaffaeleMilan, OlaszországTaking people
- Dipartimento di Neuroscienze DNS, Università di PadovaPadova, OlaszországTaking people
- Fondazione Istituto Neurologico Nazionale Casimiro Mondino IRCCSPavia, OlaszországTaking people
- Università di PisaPisa, OlaszországTaking people
- Fondazione Policlinico Universitario Agostino GemelliRoma, OlaszországTaking people
- Dipartimento di Neuroscienze Rita Levi Montalcini, Università di TorinoTorino, OlaszországTaking people
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- Istituto Giannina Gaslini
- Trial code
- NCT07879989
- Record updated
- 2026. október 19.
- Original description
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.Read full original descriptionShow less
Respiratory Progression in Adult Patients With Duchenne Muscular Dystrophy: Natural History, Biomarker Identification, and Development of a Predictive Algorithm.
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.
Inclusion: Age ≥18 years; Genetically confirmed Duchenne muscular dystrophy (DMD); Not enrolled in interventional clinical trials; Signed informed consent for study participation and personal data processing.
Exclusion: Acute respiratory failure at enrollment; Severe cognitive impairment preventing study adherence (IQ <45); Failure to provide informed consent for study participation or personal data processing; Advanced heart failure (left ventricular ejection fraction <30%).