Recruiting

Observational Study

Sponsor:

Wake Forest University Health Sciences

Code:

NCT07362875

Conditions

Myotonic Dystrophy

Eligibility Criteria

Sex: All

Age: 18 - 65

Healthy Volunteers: Accepted

Study Details

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

Study ID

NCT07362875

Start date

May 15, 2025

Status verified date

Jan, 2026

Completion date

May, 2029

Anticipated

Primary completion date

May, 2029

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 18 - 65

Healthy Volunteers: Accepted

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.

Study Design

Enrollment

75 participants

Anticipated

Interventions and Outcome Measures

Arms

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

Primary outcome measure

  • Contractile muscle volume (CMV, cm3) [ Time Frame: Baseline ]
  • Muscle fat fraction (MFF, %) [ Time Frame: Baseline ]

Central Contacts and Locations

Central contacts

Elizabeth (Gracie) G Hilber

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

Constance Linville

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

Locations

Wake Forest University Health Sciences

Recruiting

Winston-Salem, North Carolina, United States, 27157

Contacts

Elizabeth (Gracie) G Hilber

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

Constance Linville

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

More Information

Sponsor

Wake Forest University Health Sciences

Last update posted

Jan 23, 2026

Last verified

Jan, 2026

Keywords

  • dystrophia myotonica
  • muscular dystrophy
  • skeletal myopathy

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-09. This information was provided to ClinicalTrials.gov by Wake Forest University Health Sciences on 2026-01-23.