Characterization of DupEx2 Duchenne Muscular Dystrophy
Characterization of the Phenotypic Diversity in DupEx2 Duchenne Muscular Dystrophy and Identification of Predictive/Prognostic Markers
This study is trying to understand how Duchenne muscular dystrophy caused by a specific gene change affects movement, breathing, and heart health in patients, and whether it is less severe than the usual form of the disease.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 26 (estimated) |
| Sex | Male |
| Sponsor | IRCCS San Raffaele Academic / other |
| Locations | 1 site (Milano) |
| Trial ID | NCT06337669 on ClinicalTrials.gov |
What this trial studies
This study aims to characterize the clinical phenotype and potential predictive factors of patients with Duchenne muscular dystrophy (DMD) caused by duplication of exon 2. It will assess the progression of motor, respiratory, and cardiac functions, and investigate whether the Dup2 phenotype is milder than classic DMD. Whole genome sequencing will be performed to identify DNA breakpoints and correlate them with clinical outcomes. Additionally, the study will collect materials for future proteomic and transcriptomic analyses.
Who should consider this trial
Good fit: Ideal candidates for this study are pediatric and adult patients with genetically confirmed duplication of exon 2 in the dystrophin gene.
Not a fit: Patients without genetic confirmation of the Dup2 mutation will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding of Dup2 DMD, potentially guiding more effective, mutation-specific therapies.
How similar studies have performed: While studies on DMD have been conducted, this specific focus on Dup2 and its unique characteristics is relatively novel.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * pediatric and adult DMD patients harboring a genetically confirmed duplication of the exon 2 in the dystrophin gene Exclusion Criteria: * patients lacking genetic confirmation of Dup2 mutation
Where this trial is running
Milano
- Dept. of Neurology, IRCCS Ospedale San Raffaele — Milano, Italy (Recruiting)
Study contacts
- Principal investigator: Stefano C Previtali, MD — IRCCS Ospedale San Raffaele
- Study coordinator: Stefano C Previtali, MD
- Email: neuromuscolare@hsr.it
- Phone: 00390226433036
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.