Duchenne Muscular Dystrophy (DMD)GUP24005NCT07879989
Respiratory Progression in Adults With Duchenne Muscular Dystrophy.
An observational study of Duchenne Muscular Dystrophy (DMD) and Respiratory Function Decline, run by Istituto Giannina Gaslini at 13 sites in Italy.
Trial summary
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). Read more about this study
- Who is it for?
- Ages 18 years and older, men only
- Conditions the study is for
- Duchenne Muscular Dystrophy (DMD), Respiratory Function Decline, Restrictive Lung Disease
- How many people
- 150 participants
- Where
- 13 sitesItaly
- Study dates
- 9 Sep 2025to 30 Jan 2028
- Phase
- Observational
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- Men only
- No healthy volunteers
- Adult, Older adult
Study population: Adults aged 18 years or older with genetically confirmed Duchenne muscular dystrophy (DMD), recruited from 13 Italian neuromuscular centers.
Who may be able to join
- 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.
Who cannot join
- Acute respiratory failure at enrollment.
- Severe cognitive impairment preventing study adherence (IQ <45).
- Advanced heart failure (left ventricular ejection fraction <30%).
- Failure to provide informed consent for study participation or personal data processing.
Trial locations and contacts
13 sites in 1 country. Contact the study team or a site near you to ask about taking part.
13 sites in 1 country
Italy13 sites, 13 recruiting
- Recruiting
Istituto delle Scienze Neurologiche di Bologna - IRCCS
Bologna
Maria Lucia Valentino, +39 051 496 6929, marialucia.valentino@unibo.it
- Recruiting
Associazione La Nostra Famiglia Eugenio Medea - IRCCS
Bosisio Parini
Riccardo Riboni, +39 031 877111, medea@lanostrafamiglia.it
- Recruiting
Fondazione Stella Maris - IRCCS
Calambrone
Guja Astrea, +39 050 886111, guja.astrea@fsm.unipi.it
- Recruiting
IRCCS Istituto Giannina Gaslini
Genova
Federica Trucco, +39 010 5636 2912, malattieneuromuscolari@gaslini.org
- Recruiting
Azienda Ospedaliera Policlinico Universitario "G. Martino"
Messina
Maria Sframeli, +39 090 221 7178, urp@polime.it
- Recruiting
Centro Clinico NeMO
Milan
Emilio Albamonte, +39 02 9143 3731, info@centrocliniconemo.it
- Recruiting
Fondazione Istituto Neurologico Carlo Besta - IRCCS
Milan
Silvia Bonanno, +39 02 2394 2282, neurologia4@istituto-besta.it
- Recruiting
Università Vita Salute San Raffaele
Milan
Alberto Zambon, +39 02 2643 2813, neurologia@hsr.it
- Recruiting
Dipartimento di Neuroscienze DNS, Università di Padova
Padova
Luca Bello, +39 049 827 2025, cl.neurologica@aopd.veneto.it
- Recruiting
Fondazione Istituto Neurologico Nazionale Casimiro Mondino - IRCCS
Pavia
Angela Berardinelli, +39 0382 380 373, angela.berardinelli@mondino.it
- Recruiting
Università di Pisa
Pisa
Giulia Ricci, +39 050 993212, amb.neuromuscpisa@ao-pisa.toscana.it
- Recruiting
Fondazione Policlinico Universitario Agostino Gemelli
Roma
Daniela Leone, +39 06 3015 1, pediatrico.roma@centrocliniconemo.it
- Recruiting
Dipartimento di Neuroscienze Rita Levi Montalcini, Università di Torino
Torino
Tiziana Mongini, +39 011 633 6085, tmongini@cittadellasalute.to.it
About this study
Official title: 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.
Read more
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.
- Conditions
- Duchenne Muscular Dystrophy (DMD), Respiratory Function Decline, Restrictive Lung Disease, Respiratory Failure, Sleep-disordered Breathing
- Medical subject headings
- Muscular Dystrophy, Duchenne, Respiratory Insufficiency, Sleep Apnea Syndromes
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Adults with Duchenne Muscular Dystrophy (DMD) | 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. |
What is being measured
The primary outcome is the main question the study is designed to answer.
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).
Measured: 36 months; retrospective data collected from the earliest available assessment and prospective respiratory and motor assessments performed every 6 months.
Secondary outcomes (5)
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%.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: By the end of the 36-month study period, using retrospective and prospectively collected data.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Oct 2026
- Study start9 Sep 2025
- Primary completion30 Jan 2028 (estimated)
- Study completion30 Jan 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Duchenne Muscular Dystrophy (DMD)Studies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Enrolment
- 150 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Istituto Giannina Gaslini
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07879989
- Sponsor's protocol ID
- GUP24005 (14389)
- Acronym
- GUP24005
- Status last verified
- Oct 2026
- First submitted
- 9 Oct 2026
- Last updated
- 19 Oct 2026
- Results posted
- No
- Individual data sharing
- Undecided