Collecting data on non-ambulant Duchenne Muscular Dystrophy patients
Characterizing Phenothypes in Non Ambulant Duchenne Muscular Dystrophy
This study is trying to gather and review information about how Duchenne Muscular Dystrophy affects non-ambulant patients' movement, breathing, and heart health, while also looking at the impact of steroid treatment after they can no longer walk.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 250 (estimated) |
| Ages | 8 Years to 35 Years |
| Sex | Male |
| Sponsor | Fondazione Policlinico Universitario Agostino Gemelli IRCCS Academic / other |
| Locations | 2 sites (Bosisio Parini, Lc and 1 other locations) |
| Trial ID | NCT06366815 on ClinicalTrials.gov |
What this trial studies
This study aims to prospectively gather information on various functional aspects of non-ambulant patients with Duchenne Muscular Dystrophy (DMD) using a structured battery of tests that assess motor, respiratory, and cardiac functions. Additionally, it will retrospectively review similar data collected over the past decade and evaluate the effects of steroid treatment after loss of ambulation. The integrated approach seeks to identify patterns of severity and progression, appropriate outcome measures, and potential genotype/phenotype correlations.
Who should consider this trial
Good fit: Ideal candidates for this study are boys with a genetically confirmed diagnosis of Duchenne Muscular Dystrophy who have lost the ability to walk independently.
Not a fit: Patients who are still able to walk more than 10 meters or lack genetic confirmation of DMD may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could enhance understanding of DMD progression and improve management strategies for non-ambulant patients.
How similar studies have performed: Other studies have explored similar approaches in understanding DMD, but this specific observational study focuses on non-ambulant patients, making it a novel contribution to the field.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Children with genetically confirmed diagnosis of Duchenne Muscular Dystrophy will be included in the study. We will include all Duchenne Muscular Dystrophy boys who have lost the ability to walk independently. * All patients in whom consent can be obtained will be enrolled with no exclusion criteria. Exclusion Criteria: * Patients lacking genetic confirmation of Duchenne Muscular Dystrophy * Patients still able to walk for more than 10 meters.
Where this trial is running
Bosisio Parini, Lc and 1 other locations
- IRCCS Eugenio Medea - Ass. "La Nostra Famiglia" — Bosisio Parini, Lc, Italy (Recruiting)
- Fondazione Policlinico Universitario A. Gemelli IRCCS — Roma, Italy (Recruiting)
Study contacts
- Principal investigator: Marika Pane — Fondazione Policlinico Universitario Agostino Gemelli IRCCS
- Study coordinator: Marika Pane, Prof
- Email: marika.pane@policlinicogemelli.it
- Phone: 00390630156742
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.