Recruiting

Observational Study

Sponsor:

Virginia Commonwealth University

Code:

NCT07700225

Conditions

DM1

Myotonic Dystrophy

Myotonic Dystrophy 1

Myotonic Dystrophy Type 1

Myotonic Dystrophy Type-1

Eligibility Criteria

Sex: All

Age: 18 - 70

Healthy Volunteers: Not accepted

Study Details

Brief summary:

Myotonic Dystrophy type 1 (DM1) is an autosomal dominant multisystemic disorder that causes progressive disability and shortened life expectancy. It is characterized by progressive weakness and myotonia, which preferentially affects the craniofacial, hand, and distal leg muscles. Many patients also experience difficulties with cognition, cardiac arrhythmias, respiratory failure, or cataracts. Currently there is no treatment to slow progression or reverse the symptoms.

Conditions

DM1

Myotonic Dystrophy

Myotonic Dystrophy 1

Myotonic Dystrophy Type 1

Myotonic Dystrophy Type-1

Study ID

NCT07700225

Start date

Sep, 2026

Status verified date

Sep, 2026

Completion date

Dec, 2032

Anticipated

Primary completion date

Dec, 2032

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 18 - 70

Healthy Volunteers: Not accepted

Inclusion Criteria:

  • Age 18 to 70 years (inclusive)
  • Written, voluntary informed consent must be obtained prior to any study procedures. In cases where a Legally Authorized Representative (LAR) provides consent, verbal assent will be obtained from the subject, as determined by the investigator and documented directly on the consent form. Capacity to consent will be determined by the neurologist at the Baseline visit and will be signed off on the Inclusion/Exclusion checklist.
  • Clinical diagnosis of DM1 based on research criteria or positive genetic test. The research criteria for clinical diagnosis of DM1 require myotonia, muscle weakness in a characteristic distribution, and history of similar findings in a first degree relative. Genetic testing confirmed the diagnosis of DM1 in > 99% of individuals who satisfied these criteria. OR A diagnosis of CDM, which is defined as children having symptoms of myotonic dystrophy in the newborn period (<30 days), such as hypotonia, feeding or respiratory difficulty, requiring hospitalization to a ward or to the neonatal intensive care unit for 3 days or more; and a genetic test suspicious of an expanded trinucleotide (CTG) repeat in the DMPK gene in the child or first degree relative. An expanded CTG repeat size in the child is considered greater than 200 repeats or E1-E4 classification (E1= 200-500, E2=500-1,000, E3=1,000-1,500, E4>1,500)

Exclusion Criteria:

  • Symptomatic renal or liver disease, uncontrolled diabetes or thyroid disorder, or active malignancy other than in situ skin cancer.
  • Current alcohol or substance use disorder.
  • Concurrent pregnancy or planned pregnancy during the course of the study.
  • Concurrent medical condition that would, in the opinion of the investigator or clinical evaluator. compromise performance on study measures.
  • Use of mexiletine or other anti-myotonia agents within 72 hours of any study visit.

Study Design

Enrollment

1000 participants

Anticipated

Interventions and Outcome Measures

Arms

Myotonic Dystrophy Type 1 (DM1) Longitudinal Cohort

Participants with a clinical or genetic diagnosis of myotonic dystrophy type 1 (DM1) or congenital myotonic dystrophy (CDM). This cohort includes individuals transitioning from the parent study, Establishing Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1; NCT03981575), as well as newly enrolled participants.

Primary outcome measure

  • Characterize the long-term disease progression- 10 meter walk/run [ Time Frame: Baseline (0 months), every 12 months over four years ]
  • Characterize the long-term disease progression- vHOT [ Time Frame: Baseline (0 months), every 12 months over four years ]
  • Characterize the long-term disease progression- grip strength [ Time Frame: Baseline (0 months), every 12 months over four years ]
  • Characterize the long-term disease progression- ECG [ Time Frame: Baseline (0 months), every 12 months over four years ]
  • Characterize the long-term disease progression- FVC [ Time Frame: Baseline (0 months), every 12 months over four years ]
  • Characterize the long-term disease progression- DM1-Activ-c [ Time Frame: Baseline (0 months), every 12 months over four years ]

Central Contacts and Locations

Central contacts

Jennifer Raymond

804-828-6318Jennifer.raymond@vcuhealth.org

Ruby Langeslay

804-828-6318Ruby.langeslay@vcuhealth.org

Locations

Virginia Commonwealth University

Recruiting

Richmond, Virginia, United States, 23298

Contacts

Jennifer Raymond

804-828-6318Jennifer.raymond@vcuhealth.org

Principal Investigator:

Nicholas Johnson, MD

More Information

Sponsor

Virginia Commonwealth University

Last update posted

Sep 4, 2026

Last verified

Sep, 2026

Keywords

  • DM1
  • END-EXT
  • END-DM1 Extension
  • Myotonic Dystrophy Type 1
  • Steinert's Disease
  • Muscular Dystrophy
  • Neuromuscular Disease
  • DMPK
  • Natural History
  • Myotonia
  • DMCRN
  • Myotonic Dystrophy Clinical Research Network

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Virginia Commonwealth University on 2026-09-04.