Quantitative MRI measurement of muscle changes in myotonic dystrophy
Development of Quantitative Muscle Imaging as a Biomarker of Disease Endpoints in Myotonic Dystrophy (DeQoDE-DM)
This project will test whether advanced quantitative MRI scans can measure muscle structure and link to disease severity and RNA changes in adults with myotonic dystrophy.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 75 (estimated) |
| Ages | 18 Years to 65 Years |
| Sex | All |
| Sponsor | Wake Forest University Health Sciences Academic / other |
| Locations | 1 site (Winston-Salem, North Carolina) |
| Trial ID | NCT07362875 on ClinicalTrials.gov |
What this trial studies
This single-site observational project uses quantitative magnetic resonance imaging (qMRI) to characterize muscle structure in adults with genetically or clinically confirmed DM1 or DM2 and in healthy control volunteers. Participants will have non-invasive MRI scans and standardized clinical evaluations, and available muscle tissue RNA splicing data will be compared to imaging measures. The aim is to create a comprehensive baseline of qMRI findings and determine how those imaging measures relate to clinical endpoints and RNA-associated disease processes. Establishing reliable qMRI biomarkers could improve trial design and reduce the need for repeated muscle biopsies.
Who should consider this trial
Good fit: Adults 18–65 with clinically or genetically confirmed DM1 or DM2 who are clinically affected (muscle weakness or myotonia), ambulatory without a walker, and able to give informed consent are ideal candidates, with healthy adults 18–65 eligible as controls.
Not a fit: People with MRI contraindications (pacemaker, defibrillator, metal implants), BMI over 35, prior lumbar/leg surgery or neuropathy, pregnancy, non-ambulatory status, or outside the 18–65 age range are unlikely to participate or benefit from this protocol.
Why it matters
Potential benefit: If successful, qMRI could provide a non-invasive biomarker to track disease progression and treatment response, reducing reliance on muscle biopsies.
How similar studies have performed: Quantitative MRI has shown promise as a biomarker in other neuromuscular disorders, but comprehensive qMRI characterization and direct correlation with RNA splicing outcomes are relatively untested in myotonic dystrophy.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: DM subjects * Age 18 - 65 years * Diagnosis of DM1 or DM2 by clinical or genetic criteria. If DM1 or DM2 was diagnosed by clinical criteria, a first-degree relative must have genetic testing confirmation and sign a genetic consent form to release their genetic information * Clinically affected, as defined by muscle weakness or myotonia * Ambulate independently (a walker is not permitted) * Able to provide informed consent for participation in the study Control subjects * Age 18 - 65 years old * Healthy as defined by no significant medical or neurological conditions * Able to provide informed consent for participation in the study Exclusion Criteria: * Cardiac pacemaker, defibrillator, metal implants, or other contraindications for MRI * Use of anabolic or catabolic agents within one year of entry * History of lumbar spine or leg surgery, lumbar radiculopathy, or peripheral neuropathy * BMI \> 35 because obesity compromises positioning on the MR scanner * Pregnancy * For muscle biopsy, history of bleeding disorders or on anticoagulation. Subjects taking nonsteroidal anti- inflammatory agents will be asked to discontinue these medications 7 days prior to muscle biopsy.
Where this trial is running
Winston-Salem, North Carolina
- Wake Forest University Health Sciences — Winston-Salem, North Carolina, United States (Recruiting)
Study contacts
- Principal investigator: Araya Puwanant, MD — Wake Forest University Health Sciences
- Study coordinator: Elizabeth (Gracie) G Hilber
- Email: Elizabeth.Hilber@Advocatehealth.org
- Phone: 336-716-4163
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.