Recruiting

Observational StudyEstab Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1)

Sponsor:

Virginia Commonwealth University

Code:

NCT03981575

Conditions

Myotonic Dystrophy 1

DM1

Eligibility Criteria

Sex: All

Age: 18 - 70

Healthy Volunteers: Not accepted

Study Details

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

Conditions

Myotonic Dystrophy 1

DM1

Study ID

NCT03981575

Start date

Jan 1, 2019

Status verified date

Jun, 2026

Completion date

Dec 1, 2026

Anticipated

Primary completion date

Oct 1, 2026

Anticipated

Eligibility Criteria

Sex: All

Age: 18 - 70

Healthy Volunteers: Not accepted

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.

Study Design

Enrollment

700 participants

Anticipated

Interventions and Outcome Measures

Arms

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

Primary outcome measure

Change in ambulation over 24 months as measured by the 10 meter walk (m/s). [ Time Frame: 12 and 24 months ]
Change in respiratory function over 24 months as measured by spirometry, specifically the supine forced vital capacity (FVC). [ Time Frame: 12 and 24 months ]
Percent splicing of DM1-affected splice events [ Time Frame: 3 months ]

Central Contacts and Locations

Central contacts

Jennifer Raymond

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

Ruby Langeslay

804-828-8481 ruby.langeslay@vcuhealth.org

Locations

University of California, San Diego

Recruiting

La Jolla, California, United States, 92703

Contacts

Elizabeth Moreno

e4moreno@health.ucsd.edu

Gabriella Penner

gpenner@health.ucsd.edu

Principal Investigator:

Chamindra Laverty, MD

University of California, Los Angeles

Recruiting

Los Angeles, California, United States, 90095

Contacts

Dennis Fernando

310-825-3264 DeFernando@mednet.ucla.edu

Principal Investigator:

Perry Shieh, MD, PhD

University of Colorado - Denver

Recruiting

Denver, Colorado, United States, 80204

Contacts

Alyssa Avilez

303-724-4644 alyssa.avilez@cuanschutz.edu

Brianna Blume

303-724-6386 brianna.blume@cuanschutz.edu

Principal Investigator:

Matthew Wicklund, MD

University of Florida

Recruiting

Gainesville, Florida, United States, 32611

Contacts

Whitney Miller

whitney.miller@neurology.ufl.edu

Donovan Lott

djlottpt@phhp.ufl.edu

Principal Investigator:

Sankarsubramoney Subramony, MD

University of Iowa

Recruiting

Iowa City, Iowa, United States, 52242

Contacts

Maegan Tyrrell

319-356-8323 maegan-tyrrell@uiowa.edu

Loraine Brenner

loraine-brenner@uiowa.edu

Principal Investigator:

Andrea Swenson, MD

Kansas University Medical Center

Recruiting

Kansas City, Kansas, United States, 66160

Contacts

Rebecca Clay

rclay@kumc.edu

Michaela Walker

mwalker20@kumc.edu

Principal Investigator:

Jeffrey Statland, MD

University of Rochester

Recruiting

Rochester, New York, United States, 14642

Contacts

Jim Hilbert

585-273-5590 james_hilbert@urmc.rochester.edu

Jeanne Dekdebrun

585-276-4611 Jeanne_dekdebrun@urmc.rochester.edu

Principal Investigator:

Johanna Hamel, MD

Ohio State University

Recruiting

Columbus, Ohio, United States, 43210

Contacts

Kaneshia Hives

614-685-5661 Kaneshia.Hives@osumc.edu

Lischele Watkins

lischele.watkins@osumc.edu

Principal Investigator:

Bakri Elsheikh, MD

Houston Methodist Neurological Institute

Recruiting

Houston, Texas, United States, 77030

Contacts

Kadeesia Brown

346-238-2295 kbrown5@houstonmethodist.org

Principal Investigator:

Erika P. Greene

Virginia Commonwealth University

Recruiting

Richmond, Virginia, United States, 23298

Contacts

Carino Jennings

Carino.Garza@vcuhealth.org

Jodie Howell

jodie.howell@vcuhealth.org

Principal Investigator:

Nicholas Johnson, MD

More Information

Sponsor

Virginia Commonwealth University

Last update posted

Jun 10, 2026

Last verified

Jun, 2026

Keywords

Myotonic Dystrophy
END DM-1
Muscular Dystophy
DMCRN

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-09. This information was provided to ClinicalTrials.gov by Virginia Commonwealth University on 2026-06-10.