Development of Quantitative Muscle Imaging as a Biomarker of Disease Endpoints in Myotonic Dystrophy
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Myotonic Dystrophy. Basic parameters: 18 years — 65 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Official title
Development of Quantitative Muscle Imaging as a Biomarker of Disease Endpoints in Myotonic Dystrophy (DeQoDE-DM)
Overview
Myotonic dystrophy (dystrophia myotonica; DM), the most prevalent form of muscular dystrophy in adults, is characterized by progressive myopathy, myotonia, and multi-systemic involvement. DM causes severe disability and profoundly affects the patient's quality of life. Currently, no effective treatments are available that alter the course of the disease, but ongoing clinical trials are underway.
Detailed description
Past and current clinical trials in DM1 have relied on muscle biopsies to evaluate pathology and measure drug activity. However, this method is invasive and inefficient for long-term monitoring. What is lacking are non-invasive imaging biomarkers capable of providing comparable data, which would enhance trial planning, accelerating drug development while reducing morbidity and costs. Non-invasive muscle imaging, particularly through Quantitative Magnetic Resonance Imaging (qMRI), is essential to better understand how DM affects muscle structure. Moreover, the relationships between Magnetic Resonance Imaging (MRI) measures, disease severity, and Ribonucleic Acid (RNA) splicing outcomes from muscle tissues in the same DM patients are not yet known. As MRI has been relatively unstudied in DM, there needs to be a comprehensive baseline characterization of muscle structure and its relationship to clinical endpoints and RNA-associated disease processes. This will help evaluate the potential of qMRI as a biomarker of disease severity in DM.
Primary outcome measures
- Contractile muscle volume (CMV, cm3) [Time frame: Baseline]
- Muscle fat fraction (MFF, %) [Time frame: Baseline]
Secondary outcome measures (12)
- Average measures of Manual muscle testing (MMT) [Time frame: Baseline]
- Average measures of Quantitative Muscle Testing (QMT) [Time frame: Baseline]
- Average measures of grip strength (pounds or kilograms) [Time frame: Baseline]
- Average measures of pinch strength [Time frame: Baseline]
- The 6-minute walk test (6MWT) times [Time frame: Baseline]
- gait speed times [Time frame: Baseline]
- step test amount [Time frame: Baseline]
- sit-to-stand test amount [Time frame: Baseline]
- Short Physical Performance Battery (SPPB) Scores [Time frame: Baseline]
- Nine-Hole Peg Test (9HPT) times [Time frame: Baseline]
- Time Up and Go (TUG) times [Time frame: Baseline]
- DM1-Activity and Participation Scale (DM1-Activ) Scores [Time frame: Baseline]
Eligibility 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.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Observational model
- Case-control
Study locations
United States · 1 center
- Wake Forest University Health Sciences — Winston-Salem
Identifiers
NCT: NCT07362875 · IRB00125282