Quantitative MRI measurement of muscle changes in myotonic dystrophy

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• 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

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

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• Once-daily prolonged-release mexiletine for myotonic dystrophy types 1 and 2 (HERCULES)

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.