Estab Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1)
NCT ID: NCT03981575
Last Updated: 2025-06-06
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
700 participants
OBSERVATIONAL
2019-01-01
2026-12-01
Brief Summary
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Funding Source- FDA OOPD
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Detailed Description
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Muscle biopsy sub-study: Studies of splicing biomarkers in muscle biopsy samples will be conducted on a subset of 95 participants. These participants will have an additional study visit at 3 months.
Longitudinal muscle biopsy sub-study: Up to 30 individuals who have had a prior muscle biopsy as part of a DMCRN study will be asked to undergo another biopsy greater than 24 months after the prior biopsy. These participants will have an additional ad hoc biopsy visit.
COVID-19 sub-study: To evaluate severity of illness and response to COVID-19 vaccination in DM1 patients compared to corresponding data available about the general population, END-DM1 study participants will be asked to complete a one-time survey about COVID-19 experiences. A subset of those participants' blood samples will be analyzed to understand immunoglobulin response to infection and vaccination in DM1 patients.
Actigraphy sub-study: To assess daily physical activity in individuals with DM1 and evaluate physical activity changes over a 12-24 month period related to disease progression, a subset of participants will be asked to wear a small, wireless activity monitor while performing functional assessments described in the main study. Those participants will be asked to wear the activity monitor for 7 days following their research visit. Those participants will be asked to complete additional questionnaires.
Handheld Dynamometry sub-study: To evaluate additional muscle strength methods, a subset of participants will be asked to complete additional strength testing using either the MEDup or MicroFET handheld dynamometry device on the same day as their END-DM1 main study visit. Those participants will be asked to return to the clinic for a second visit within 10 days of the END-DM1 study visit to repeat the handheld dynamometry assessments and complete additional strength measures.
Conditions
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Study Design
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OTHER
PROSPECTIVE
Study Groups
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Study Visits
Patients will receive standard of care as determined by their treating physician. Study visits occur at baseline/0 months, 12 months, and 24 months
No interventions assigned to this group
Eligibility Criteria
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Inclusion Criteria
* 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
• 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
* 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.
* 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.
18 Years
70 Years
ALL
No
Sponsors
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University of Rochester
OTHER
Stanford University
OTHER
Ohio State University
OTHER
University of Florida
OTHER
University of Iowa
OTHER
Ludwig-Maximilians - University of Munich
OTHER
Fondazione Serena Onlus - Centro Clinico NeMO Milano
OTHER
The Methodist Hospital Research Institute
OTHER
Radboud University Medical Center
OTHER
University College London Hospitals
OTHER
University of California, Los Angeles
OTHER
Virginia Commonwealth University
OTHER
Responsible Party
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Principal Investigators
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Nicholas Johnson, MD
Role: PRINCIPAL_INVESTIGATOR
Virginia Commonwealth University
Charles Thornton, MD
Role: PRINCIPAL_INVESTIGATOR
University of Rochester
Locations
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University of California, San Diego
La Jolla, California, United States
University of California, Los Angeles
Los Angeles, California, United States
University of Colorado - Denver
Denver, Colorado, United States
University of Florida
Gainesville, Florida, United States
University of Iowa
Iowa City, Iowa, United States
Kansas University Medical Center
Kansas City, Kansas, United States
University of Rochester
Rochester, New York, United States
Ohio State University
Columbus, Ohio, United States
Houston Methodist Neurological Institute
Houston, Texas, United States
Virginia Commonwealth University
Richmond, Virginia, United States
Université de Sherbrooke
Québec, , Canada
Friedrich Baur Institute, Ludwig-Maximilians-Universität München
München, , Germany
Centro Clinico NeMO
Milan, , Italy
Radboud University Medical Center
Nijmegen, , Netherlands
University of Auckland
Auckland, , New Zealand
St. George's, University of London
London, , United Kingdom
University College London
London, , United Kingdom
Countries
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Central Contacts
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Facility Contacts
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References
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Provenzano M, Ikegami K, Bates K, Gaynor A, Hartman JM, Jones A, Butler A, Berggren KN, Dekdebrun J, Hung M, Lapato DM, Kiefer M, Thornton CA, Johnson NE, Hale MA; Myotonic Dystrophy Clinical Research Network (DMCRN). The Splice Index as a prognostic biomarker of strength and function in myotonic dystrophy type 1. J Clin Invest. 2025 Jan 7;135(4):e185426. doi: 10.1172/JCI185426.
Other Identifiers
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DMCRN
Identifier Type: OTHER
Identifier Source: secondary_id
FD-R-006071
Identifier Type: OTHER_GRANT
Identifier Source: secondary_id
HM20014419
Identifier Type: -
Identifier Source: org_study_id
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