Development of Quantitative Muscle Imaging as a Biomarker of Disease Endpoints in Myotonic Dystrophy

NCT07362875 | Recruiting

• 1 other identifier: IRB00125282
• Study Type: observational
• Target: 75
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Myotonic Dystrophy

Keywords

dystrophia myotonica; muscular dystrophy; skeletal myopathy

Outcome Measures

Primary Outcomes (2)

• Contractile muscle volume (CMV, cm3)

  Contractile muscle volume (CMV, cm3) of individual muscles and the total CMV within the thigh (anterior, medial, posterior) and calf (anterior, lateral, posterior) compartments

  Baseline

• Muscle fat fraction (MFF, %)

  Muscle fat fraction (MFF, %) of individual muscles and the total CMV within the thigh (anterior, medial, posterior) and calf (anterior, lateral, posterior) compartments

  Baseline

Secondary Outcomes (17)

• Average measures of Manual muscle testing (MMT)

  Baseline

• Average measures of Quantitative Muscle Testing (QMT)

  Baseline

• Average measures of grip strength (pounds or kilograms)

  Baseline

• Average measures of pinch strength

  Baseline

• The 6-minute walk test (6MWT) times

  Baseline

Study Arms (2)

DM subjects

1. Age 18 - 65 years 2. 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. 3. Clinically affected, as defined by muscle weakness or myotonia 4. Ambulate independently (a walker is not permitted) 5. Able to provide informed consent for participation in the study

Control subjects

1. Age 18 - 65 years old 2. Healthy as defined by no significant medical or neurological conditions 3. Able to provide informed consent for participation in the study

Eligibility Criteria

• Age: 18 Years - 65 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

The selection criteria will minimize the heterogeneity effects and mirror DM subjects likely to be selected for clinical trials, who are typically mildly to moderately affected. Subjects will be recruited from the Wake Forest Neuromuscular Clinic and nearby medical centers (Duke University, UNC Chapel Hill, and Atrium Health in Charlotte). Since DM2 is rarer than DM1 and patients live across the country, additional recruitment efforts will target DM2 subjects through the Myotonic Dystrophy Foundation Family Registry (MDFR).

You may qualify if:

• 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

You may not qualify if:

• 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.

Sponsors & Collaborators

• Wake Forest University Health Sciences: lead

Study Sites (1)

Wake Forest University Health Sciences

Winston-Salem, North Carolina, 27157, United States

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

A subset of 20 subjects with DM (approximately 10 subjects with DM1 and 10 subjects with DM2) and 5 controls will undergo needle muscle biopsies (tibialis anterior for DM1 and controls, vastus lateralis for DM2) after completion of the MRI scan and Coarctation of the Aorta (COAs). These subjects will sign a separate consent form for muscle biopsy sub-study. The biopsy procedure will involve 3 study visits: screening, biopsy, and follow-up visits. Depending on the availability of the subjects, research staff, and facilities, it is possible that the screening and biopsy visits can be combined into one visit.

MeSH Terms

Conditions

Myotonic Dystrophy; Muscular Dystrophies

Condition Hierarchy (Ancestors)

Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Myotonic Disorders; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Nervous System Diseases; Neuromuscular Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Araya Puwanant, MD

  Wake Forest University Health Sciences

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Elizabeth (Gracie) G Hilber

CONTACT

336-716-4163; Elizabeth.Hilber@Advocatehealth.org

Constance Linville

CONTACT

704-355-2000; Martha.Linville@advocatehealth.org

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 15, 2026
• First Posted: January 23, 2026
• Study Start: May 15, 2025
• Primary Completion (Estimated): May 1, 2029
• Study Completion (Estimated): May 1, 2029
• Last Updated: January 23, 2026

Record last verified: 2026-01

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)