- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT03981575
Establishing Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1)
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
Study Overview
Status
Conditions
Detailed Description
Study Type
Enrollment (Estimated)
Contacts and Locations
Study Contact
- Name: Jennifer Raymond
- Phone Number: 804-828-6318
- Email: jennifer.raymond@vcuhealth.org
Study Contact Backup
- Name: Ruby Langeslay
- Phone Number: 804-828-8481
- Email: ruby.langeslay@vcuhealth.org
Study Locations
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Québec, Canada
- Recruiting
- Université de Sherbrooke
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Contact:
- Valérie Gagné-Ouellet
- Phone Number: 2872 418-695-7700
- Email: valerie.gagne.ouellet@usherbrooke.ca
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Principal Investigator:
- Cynthia Gagnon, erg. PhD.
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Paris, France
- Not yet recruiting
- Neuromuscular Reference Center Institute of Myology
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Principal Investigator:
- Guilaume Bazzez, MD
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Contact:
- Guillaume Bassez, MD
- Email: guillaume.bassez@aphp.fr
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München, Germany
- Recruiting
- Friedrich Baur Institute, Ludwig-Maximilians-Universität München
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Contact:
- Benedikt Schoser
- Phone Number: +49 (0)89 4400 57400
- Email: benedikt.schoser@med.lmu.ede
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Principal Investigator:
- Benedikt Schoser, FEAN
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Milan, Italy
- Recruiting
- Centro Clinico NeMO
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Contact:
- Luca Mauro
- Email: luca.mauro@centrocliniconemo.it
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Principal Investigator:
- Valeria Sansone, MD
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Nijmegen, Netherlands
- Recruiting
- Radboud University Medical Center
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Contact:
- Baziel vanEngelen
- Phone Number: (024) 366 8374
- Email: Baziel.vanEngelen@radboudumc.nl
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Principal Investigator:
- Baziel van Engelen, MD
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Auckland, New Zealand
- Recruiting
- University of Auckland
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Contact:
- Marcelli Coronet
- Phone Number: 64220235396
- Email: marcelli.coronet@auckland.ac.nz
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Principal Investigator:
- Richard Roxburgh
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Contact:
- Miriam Rodrigues
- Phone Number: 021896662
- Email: mrodrigues@adhb.govt.nz
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London, United Kingdom
- Recruiting
- University College London
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Contact:
- Chris Turner
- Email: chris.turner7@nhs.net
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Principal Investigator:
- Chris Turner
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California
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La Jolla, California, United States, 92703
- Recruiting
- University of California, San Diego
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Contact:
- Mariah Stechschulte
- Phone Number: 760-576-6113
- Email: mastechschulte@health.ucsd.edu
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Contact:
- Tonya Khouani
- Email: tpkhanani@health.ucsd.edu
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Principal Investigator:
- Chamindra Konersman, MD
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Los Angeles, California, United States, 90095
- Recruiting
- University of California, Los Angeles
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Contact:
- Dennis Fernando
- Phone Number: 310-825-3264
- Email: DeFernando@mednet.ucla.edu
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Principal Investigator:
- Perry Shieh, MD, PhD
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Stanford, California, United States, 94305
- Recruiting
- Stanford University
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Contact:
- Christina Frater
- Phone Number: 650-374-9438
- Email: cfrater@stanford.edu
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Contact:
- Lesly Welsh
- Phone Number: 650-454-6153
- Email: lwelsh@stanford.edu
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Principal Investigator:
- John Day, MD, PhD
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Colorado
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Denver, Colorado, United States, 80204
- Recruiting
- University of Colorado - Denver
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Contact:
- Alyssa Avilez
- Phone Number: 303-724-4644
- Email: alyssa.avilez@cuanschutz.edu
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Contact:
- Brianna Blume
- Phone Number: 303-724-6386
- Email: brianna.blume@cuanschutz.edu
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Principal Investigator:
- Matthew Wicklund, MD
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Florida
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Gainesville, Florida, United States, 32611
- Recruiting
- University of Florida
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Contact:
- Calvin Thomas
- Phone Number: 352-733-2425
- Email: Ashley.Thomas@neurology.ufl.edu
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Principal Investigator:
- Sankarsubramoney Subramony, MD
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Iowa
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Iowa City, Iowa, United States, 52242
- Recruiting
- University of Iowa
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Contact:
- Loraine Brenner
- Phone Number: 319-356-8323
- Email: loraine-brenner@uiowa.edu
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Principal Investigator:
- Andrea Swenson, MD
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Contact:
- Nicole Kressin
- Phone Number: 319-678-8596
- Email: Nicole-kressin@uiowa.edu
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Kansas
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Kansas City, Kansas, United States, 66160
- Recruiting
- Kansas University Medical Center
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Contact:
- Kaylene Whited
- Phone Number: 913-574-0009
- Email: kwhited2@kumc.edu
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Principal Investigator:
- Jeffrey Statland, MD
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Contact:
- Michaela Walker
- Email: mwalker20@kumc.edu
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Maryland
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Bethesda, Maryland, United States, 20814
- Completed
- National Institute of Health NINDS
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New York
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Rochester, New York, United States, 14642
- Recruiting
- University of Rochester
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Contact:
- Jeanne Jeanne Dekdebrun
- Phone Number: 585-276-4611
- Email: Jeanne_dekdebrun@urmc.rochester.edu
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Principal Investigator:
- Johanna Hamel, MD
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Ohio
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Columbus, Ohio, United States, 43210
- Recruiting
- Ohio State University
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Contact:
- Kaneshia Hives
- Phone Number: 614-685-5661
- Email: Kaneshia.Hives@osumc.edu
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Contact:
- Lischele Watkins
- Email: lischele.watkins@osumc.edu
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Principal Investigator:
- Bakri Elsheikh, MD
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Texas
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Houston, Texas, United States, 77030
- Recruiting
- Houston Methodist Hospital
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Contact:
- Isaiah Carter
- Phone Number: 713-441-5192
- Email: iccarter@houstonmethodist.org
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Principal Investigator:
- Erika Simpson
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Virginia
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Richmond, Virginia, United States, 23298
- Recruiting
- Virginia Commonwealth University
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Contact:
- Shantel Kyles
- Email: shantel.brown@vcuhealth.org
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Principal Investigator:
- Nicholas Johnson, MD
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Contact:
- Jodie Howell
- Email: jodie.howell@vcuhealth.org
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Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Sampling Method
Study Population
DM1 has a prevalence rate of approximately 1 per 2,300. There are no expected gender differences. Both men and women will be selected for this study.
Children with DM1 are not included in this project because the pathophysiological basis of congenital and childhood DM1 appears to be mechanistically distinct.
Description
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 Plan
How is the study designed?
Design Details
- Observational Models: Other
- Time Perspectives: Other
Cohorts and Interventions
Group / Cohort |
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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
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What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
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Change in ambulation over 24 months as measured by the 10 meter walk (m/s).
Time Frame: 12 and 24 months
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10 meter walk will be measured (m/s)
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12 and 24 months
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Change in respiratory function over 24 months as measured by spirometry, specifically the supine forced vital capacity (FVC).
Time Frame: 12 and 24 months
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Supine forced vital capacity (% predicted)
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12 and 24 months
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Percent splicing of DM1-affected splice events
Time Frame: 3 months
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RNA sequenced of muscle biopsy samples collected at two different times will be combined and used to calculate a percent splicing index (PMI)
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3 months
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Collaborators and Investigators
Sponsor
Collaborators
Investigators
- Principal Investigator: Nicholas Johnson, MD, Virginia Commonwealth University
- Principal Investigator: Charles Thornton, MD, University of Rochester
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Estimated)
Study Completion (Estimated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
Other Study ID Numbers
- HM20014419
- DMCRN (Other Identifier: University of Rochester)
- FD-R-006071 (Other Grant/Funding Number: OPD)
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
IPD Plan Description
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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