NCT07700225 Establishing Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1) Extension
| NCT ID | NCT07700225 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Virginia Commonwealth University |
| Condition | DM1 |
| Study Type | OBSERVATIONAL |
| Enrollment | 1,000 participants |
| Start Date | 2026-09 |
| Primary Completion | 2032-12 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 1,000 participants in total. It began in 2026-09 with a primary completion date of 2032-12.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
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.
Eligibility Criteria
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.
Contact & Investigator
Nicholas Johnson, MD
PRINCIPAL INVESTIGATOR
Virginia Commonwealth University
Frequently Asked Questions
Who can join the NCT07700225 clinical trial?
This trial is open to participants of all sexes, aged 18 Years or older, up to 70 Years, studying DM1. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT07700225 currently recruiting?
Yes, NCT07700225 is actively recruiting participants. Contact the research team at Jennifer.raymond@vcuhealth.org for enrollment information.
Where is the NCT07700225 trial being conducted?
This trial is being conducted at Richmond, United States.
Who is sponsoring the NCT07700225 clinical trial?
NCT07700225 is sponsored by Virginia Commonwealth University. The principal investigator is Nicholas Johnson, MD at Virginia Commonwealth University. The trial plans to enroll 1,000 participants.