NCT03981575 Estab Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1)
| NCT ID | NCT03981575 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Virginia Commonwealth University |
| Condition | Myotonic Dystrophy 1 |
| Study Type | OBSERVATIONAL |
| Enrollment | 700 participants |
| Start Date | 2019-01-01 |
| Primary Completion | 2026-10-01 |
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 700 participants in total. It began in 2019-01-01 with a primary completion date of 2026-10-01.
⚠ 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
Building on previous work of the Myotonic Dystrophy Clinical Research Network (DMCRN), the present study seeks to overcome insufficient data on natural history; lack of reliable biomarkers; and incomplete characterization and limited biological understanding of the phenotypic heterogeneity of Myotonic Dystrophy 1 by examining strategies to improve the reliability by making further refinements in our sample collection and analysis procedures by developing strategies for managing patient heterogeneity going forward. Funding Source- FDA OOPD
Eligibility Criteria
Inclusion criteria: * Age 18 to 70 (inclusive) * Competent to provide informed consent * Clinical diagnosis of DM1 based on research criteria1 or positive genetic test * Comment: The clinical research criteria 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.2 Exclusion criteria: * Symptomatic renal or liver disease, uncontrolled diabetes or thyroid disorder, or active malignancy other than skin cancer. * Current alcohol or substance abuse * Concurrent enrollment in clinical trial for DM1, or participation in trial within 6 months of entry. * 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. * Note: non-ambulatory participants are not excluded, but are limited to \<15% of enrollment. Inclusion criteria for participants in the muscle biopsy sub-study: • Of the 95 patients undergoing the tibialis anterior muscle biopsy, at least half will have at least moderate weakness of ankle dorsiflexion, defined as MRC score ≤ 4+. This is in order to obtain a muscle tissue sample in a person more severely affected with myotonic dystrophy. Approximately 10 patients at each site will undergo the muscle biopsy. Exclusion criteria for 95 participants in the muscle biopsy sub-study: * Known CTG repeat expansion size less than 100 repeats, unless there are clear cut signs of limb weakness and muscle wasting. This is in order to obtain a muscle tissue sample in a person more severely affected with myotonic dystrophy. * Use of anticoagulant such as warfarin or a direct oral anticoagulant (e.g. dabigatran) due to the increased risk of bleeding. * Use of aspirin or non-steroidal anti-inflammatory agents should be discontinued 3 days prior to the biopsy procedure, if possible. * Platelet count \<50,000 (if known) due to the increased risk of bleeding. * History of a bleeding disorder due to the increased risk of bleeding. * Advanced wasting of tibialis anterior (TA) muscle that precludes needle muscle biopsy in order to ensure that a sample taken would be of muscle and not just fat and fascia. * Previous muscle biopsy of either TA in order to provide muscle tissue samples of non-biopsied muscles.
Contact & Investigator
Nicholas Johnson, MD
PRINCIPAL INVESTIGATOR
Virginia Commonwealth University
Frequently Asked Questions
Who can join the NCT03981575 clinical trial?
This trial is open to participants of all sexes, aged 18 Years or older, up to 70 Years, studying Myotonic Dystrophy 1. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT03981575 currently recruiting?
Yes, NCT03981575 is actively recruiting participants. Contact the research team at jennifer.raymond@vcuhealth.org for enrollment information.
Where is the NCT03981575 trial being conducted?
This trial is being conducted at La Jolla, United States, Los Angeles, United States, Denver, United States, Gainesville, United States and 11 additional locations.
Who is sponsoring the NCT03981575 clinical trial?
NCT03981575 is sponsored by Virginia Commonwealth University. The principal investigator is Nicholas Johnson, MD at Virginia Commonwealth University. The trial plans to enroll 700 participants.