Current trial participants should view our short Clinical Trials Training Video to familiarize yourself with the clinical trials process and important do's and don'ts, such as what content is appropriate to share publicly.
We strongly encourage you to join registries, including the Myotonic Dystrophy Family Registry and the DM and FSHD Registry at the University of Rochester, and make sure you update your information annually. You also may have an opportunity to participate in biobanks and follow organizations like the Myotonic Dystrophy Foundation to make sure you have current information regarding progress and research needs.
Visit the full Study & Trial Resource Center to find additional resources for participants as well as a list of frequently asked questions.
See the list below for information on current studies and trials.
Status: Recruiting
Establishing Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1)
Conditions: Myotonic Dystrophy Type 1
Location: Multiple sites
Sponsor: Myotonic Dystrophy Clinical Research Network
Contact: Co-PIs Drs. Charles Thornton and Nicholas Johnson; see site-specific contact information below
If you are interested in this research study, please contact one of the study coordinators listed below or email Brittney Holmberg.
Recruiting:
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University of Kansas, Kansas City, Kansas: Jeffrey Statland, MD, jstatland@kumc.edu
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University of Rochester, Rochester, New York: Jeanne Dekdebrun, dekdegbrun@urmc.rochester.edu / 585-276-4611
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Virginia Commonweatlh University, Richmond, Virginia: Liz Diaz, liz.diaz@vcuhealth.org / 804-628-6480
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Ohio State University, Columbus, Ohio: Haley Willard, haley.willard@osumc.edu / 614-685-5815
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University of Florida, Gainesville, Florida: Amanda Cowesert, amanda.cowsert@neurology.ufl.edu / 352-294-8448
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Houston Methodist, Houston, Texas: Sharon Halton, slhalton@houstonmethodist.org / 713-441-5190
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Stanford University, Stanford, California: Dana McDonnel / 650-407-7912
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University of Iowa, Iowa City, Iowa: Laurie Gutmann, MD, laurie-gutmann@uiowa.edu / 319-358-8596
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National Institutes of Health, Bethesda, Maryland: Vanessa Ndege, vanessa.ndege@nih.gov / 301-435-9319
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Institut de Myologie, Paris, France: Guillaume Bassez, MD, guillaume.bassez@aphp.fr
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Centro Clinico NEMO, Milan, Italy: Luca Mauro, luca.mauro@centrocliniconemo.it
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Radboud University, Nijmegen, Netherlands: Baziel vanEngelen, MD, baziel.vanengelen@radboudumc.nl / (024) 366 8374
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Ludwig Maximilian University of Munich, Munich, Germany: Benedikt Schoser, FEAN, max.musermann@med.uni-muenchen.de / +49 (0)89 4400 57400
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Newcastle University, Newcastle-Upon-Tyne, United Kingdom: Volker Straub, MD, volker.straub@newcastle.ac.uk
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University College London, London, United Kingdom: Chris Turner, PhD, chris.turner7@nhs.net
Status: Recruiting
Evaluate Brain Structure and Function in Myotonic Dystrophy Type 2
Conditions: Confirmed DM2, Ages 40+, no history of active psychiatric and other neurological disorders, can walk independently (cane and/or walker are permitted), be able to particpate in an MRI, and not pregnant.
Location: Winston-Salem, NC
Sponsor: Wake Forest Neuroscience Clinical Trials and Innovation Center
Contact: Carolina Burgos, 336-713-2603, caguilar@wakehealth.edu
Status: Recruiting
Safety, Tolerability and Pharmacokinetics of ERX-963 in Adults With Myotonic Dystrophy Type 1
Conditions: Confirmed DM1. Ages 18-60 with the age of onset greater than 16. An Epworth Sleepiness Scale of >11 or participants who sleep an average >10 hours a day.
Location: Multiple sites
Sponsor: Expansion Therapeutics, Inc.
Contact: Anita Seto, PhD, 858-764-4290, info@expansionrx.com
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Palo Alto, CA: Stanford, Dana McDonnell, danamc@stanford.edu, 650-407-7912
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Miami, FL: Sleep Medicine Specialists of South Florida, Maria Almanzar, malmanzar@southfloridasleeps.com, 786-499-7786
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Iowa City, IA: University of Iowa, Nicole Kressin, nicole-kressin@uiowa.edu, 319-678-8596
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Chevy Chase, MD: Center for Sleep & Wake Disorders, Valmire Valcéna, valmire@sleepdoc.com, 301-654-5665
Status: Recruiting
Cognitive Function and Neuroimaging in Myotonic Dystrophy
Conditions: Males and females, ages 7 to 17 years-old, who have been diagnosed with CDM or childhood onset DM1.
Location: Salt Lake City, UT
Sponsor: University of Utah
Contact: Study Coordinator, Becky Crockett at 801-585-1676 or at becky.crockett@hsc.utah.edu
Status: Recruiting
Biomarker Development for Muscular Dystrophies
Conditions: Confirmed DM1 or DM2. Males and females ages 14 and older. In addition, male and female healthy volunteers ages 18 and older who are family members of an individual with muscular dystrophy also are invited to participate.
Location: Boston, MA
Sponsor: Massachusetts General Hospital
Contact: Thurman Wheeler, MD or Alex Sizemore, 617-726-7506
Status: Recruiting
Biomarker Development for Muscular Dystrophies
Conditions: Confirmed DM1 or DM2. Males and females ages 5 and older. In addition, male and female healthy volunteers ages 18 and older who are family members of an individual with muscular dystrophy also are invited to participate.
Location: Boston, MA
Sponsor:
- Boston Children's Hospital
- Massachusetts General Hospital
- Brigham and Women's Hospital
Contact:
- Thurman Wheeler, MD or Alex Sizemore, 617-726-7506
- Basil Darras, MD, or Rachael Titus, 617-919-1806
- Anthony Amato, MD, 857-307-1445
Status: Recruiting
Extracellular RNA biomarkers of myotonic dystrophy
Conditions: Confirmed DM1 or DM2. Males and females ages 5 and older. In addition, male and female healthy volunteers ages 18 and older who are family members of an individual with muscular dystrophy also are invited to participate.
Location: Boston, MA
Sponsor:
- Massachusetts General Hospital
- Brigham and Women’s Hospital
- Beth Israel Deaconess Medical Center
Contact:
- Thurman Wheeler, MD or Ningyan Hu, MS, 617-726-7506
- Marie Guthrie or Louis Beers, 857-307-1445
- Hilda Gutierrez, MD, 617-667-3086
Status: Recruiting
Developmental Brain Disorders: Parent Survey of Symptoms and Function
Conditions: Children with genetic disorders that can result in autism, developmental and intellectual disability, seizures, challenging behaviors, movement disorders, vision/hearing loss, or any combination of these problems.
Location: Online Survey
Sponsor:
- University of Rochester, Rochester, NY
- Cardiff University, Cardiff, Wales, United Kingdom
Contact: DBDStudy@Cardiff.ac.uk or (585) 275-9330 (secure messages can be left at this number.)
Status: Recruiting
Study of Pathogenesis and Progression in DM (STOPP-DM2)
Conditions: DM2 ages 18-80 still open for enrollment; DM1 enrollment is closed
Location: University of Rochester, Rochester, NY
Sponsor: NIH
Contact: Jeanne Dekdebrun, M.S., (585)276-4611
Status: Recruiting
NIPD on CFTC for Triplet Repeat Diseases (DIACCIMEX)
Conditions: Expectant couple (pregnant woman between 9 and 34 weeks of gestation and her spouse) at risk of transmitting a triplet-repeat related genetic disease including Myotonic Dystrophy type 1
Location:
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Bordeaux, France
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Montpellier, France
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Nice, France
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Nîmes, France
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Rennes, France
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Saint Brieuc, France
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Schiltigheim, France
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Toulouse, France
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Sponsor: University Hospital, Montpellier
Contact:
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Marie Claire VINCENT, PhD-PharmaD, 411759879 ext 33
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Claire GUISSART, 411759879 ext 33
Status: Recruiting
Clinical Outcome Measures in Myotonic Dystrophy Type 2 (COMEDY-2)
Conditions: Myotonic Dystrophy Type 2
Location: Friedrich-Baur-Institue, Dep. of Neurology Klinikum der Universitaet Muenchen Munich, Germany
Sponsor: Prof. Dr. Benedikt Schoser
Contact: Benedikt Schoser, MD
Status: Recruiting
Trial Readiness and Endpoint Assessment in Congenital Myotonic Dystrophy (TREAT-CDM)
Conditions: Children up to age 15 with Congenital Myotonic Dystrophy
Locations:
- Richmond, VA
- London, Ontario, Canada
- Milano, Italy, 20162
Sponsor:
- Virginia Commonwealth University
- Neuromuscular Omnicomprehensive Clinical Center
- University of Wetern Ontario
Contact:
- Nicholas Johnson, MD, (804)628-6439
- Brittney A Holmberg, (804)628-6439
Status: Recruiting
Myotonic Dystrophy Family Registry
Conditions: All types of DM
Location: Online/Global
Sponsor: Myotonic
Status: Recruiting
Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry
Conditions: DM1; DM2; Congenital Myotonic Dystrophy; Muscular Dystrophy
Location: Rochester, NY
Sponsor:
- University of Rochester
- National Institute of Neurological Disorders and Stroke (NINDS)
Contact: Registry Coordinator, (888)925-4302
Status: Recruiting
Ventilatory Response After Non Invasive Ventilation in Type 1 Myotonic Dystrophy
Conditions: Adults with DM1
Location: Mexico City, Mexico
Sponsor: National Institute of Respiratory Diseases, Mexico
Contact: Martha G Torres Fraga, MD, +(52)555 666 8640
Status: Recruiting
Characterization of Sleep, Neuropsychology and Brain Changes in Adults with Myotonic Dystrophy Type 1
Conditions: DM1 and Unaffected
Location: Stanford, CA (Including Stanford Center for Sleep Sciences and Medicine)
Sponsor: NIH/Investigator-Initiated
Contact: Stanford Neuromuscular Research Line (650)725-4341
Status: Recruiting
Insulin Resistance and Insulin Secretion in Patients with Myotonic Dystrophy
Conditions: DM1
Location: Stanford, CA
Sponsor: Stanford University
Contact: Stanford Neuromuscular Research Line (650)725-4341
Status: Recruiting
Defining and Managing the Neuropsychological Abnormalities of Myotonic Dystrophy in Children
Conditions: DM1 and Unaffected
Location: Stanford, CA
Sponsor:
- Lucile Packard Children's Hospital
- Stanford University
Contact: Stanford Neuromuscular Research Line (650)725-4341
Status: Recruiting
Characterizing the Sleep and Gastrointestinal Changes in Adults with Myotonic Dystrophy (Questionnaire-based)
Conditions: Myotonic Dystrophy
Location: Stanford, CA
Sponsor: Stanford University
Contact: Stanford Neuromuscular Research Line 650-725-4341
Status: Recruiting
Venous Thromboembolism in Myotonic Dystrophy Type 1 (DM1-VTE)
Conditions: Myotonic Dystrophy Type 1
Location: Service de Cardiologie - Hôpital Cochin, France
Sponsor:
- Assistance Publique - Hôpitaux de Paris
- AFM-Téléthon (Funding)
- Recherche Clinique Paris Descartes Necker Cochin Sainte Anne
Contact:
- Karim Wahbi, MD, PhD; +33 (0)1 58 41 16 63; karim.wahbi@aphp.fr
- Adèle Bellino; +33 (0)1 58 41 11 95; adele.bellino@aphp.fr
Status: Enrolling by invitation
Muscle Relaxation in Myopathies With Positive Muscle Phenomena
Conditions: Adults with DM2
Location: Nijmegen, Netherlands
Sponsor: Radboud University
Contact: Baziel G van Engelen, MD, PhD, +(31)024 361 43 08
Status: Enrolling by invitation
Derivation of Human Induced Pluripotent Stem Cells to Heritable Cardiac Arrhythmias
Conditions: All types of DM
Location: Baltimore, MD
Sponsor: Johns Hopkins University
Status:Not yet recruiting
Efficacy and Safety of Tideglusib in Congenital Myotonic Dystophy
Conditions: Congenital Myotonic Dystrophy
Location:
- Palo Alto, CA
- Iowa City, IA
- Rochester, NY
- Norfolk, VA
- London, Ontario, Canada
Sponsor: AMO Pharma Limited
Status: Active, not recruiting
Sudden Cardiac Death Stratification in Myotonic Dystrophy Type 1 Patients
Conditions: Adults (18-75) with DM1 confirmed by genetic testing
Sponsor: University of Campania "Luigi Vanvitelli"
Status: Active, not recruiting
Kennedy Krieger DM2 Natural History Study
Conditions: Adults (18+) with DM2 confirmed by genetic testing, LVEF >35% on two-dimensional echocardiography, and permanent pacing indication according to the current guidelines
Location: Baltimore, MD
Sponsor: Kennedy Kreiger Institute
Contact: Doris G. Leung, MD, PhD, (443)923-9521
Status: Active, not recruiting
The Myotonic Dystrophy Type 1 (DM1) Deep Phenotyping to Improve Delivery of Personalized Medicine and Assist in the Planning, Design and Recruitment of Clinical Trials (PhenoDM1)
Conditions: DM1
Location: Newcastle and London
Sponsor: Newcastle-upon-Tyne Hospitals NHS Trust
Contact: Nikoletta Nikolenko, M.D., Ph.D., +4478 7051 7410
Status: Active, not recruiting
Brain Structure and Function in Adults with a Family History of DM1
Conditions: Adults (18-65 years old) diagnosed with DM1 after the age of 21 or with a family history of DM1
Location: Iowa City, IA
Sponsor: National Institute of Neurological Disorders and Stroke (NINDS)
Status: Active, not recruiting
Efficacy and Tolerance of Early Launching of Nocturnal Non Invasive Ventilation in Adults with DM1
Conditions: DM1; myopathy; muscular weakness; respiratory insufficiency
Location: Paris, France
Sponsor: Assistance Publique - Hôpitaux de Paris
Status: Unknown
German Language Screening Questionnaire for Symptoms of Respiratory Muscle Weakness and Sleep-disordered Breathing in Patients With Neuromuscular Disorders
Conditions: German Adults (18-80 years old), All types of DM, patients without any type of home ventilatory support
Location: Münster, Germany
Sponsor: Westfälische Wilhelms-Universität Münster
Contact: Matthias Boentert, MD, +49-251-83 ext. 44458
Status: Unknown
Sleep Breathing Disorders, a Main Trigger for Cardiac Arrhythmias in Type 1 Myotonic Dystrophy
Conditions: DM1
Location: Grenoble, France
Sponsor: University Hospital, Grenoble
Contact: Amina Fontanell, +33 4 76 76 76 62
Status: Unknown
Non Invasive Prenatal Testing of Single-Gene Disorders
Conditions: All types of DM
Location: Maastricht, Netherlands
Sponsor: Maastricht University Medical Center
Contact: Christine EM de Die, MD PhD, +31 4 33877859