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Current Studies and Trials

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 MDF to make sure you have current information regarding progress and research needs.

See the list below for information on current studies and trials.




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.

    Not yet 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.

  • Palo Alto, CA
  • Iowa City, IA

       Sponsor: Expansion Therapeutics, Inc.
       Contact: Anita Seto, PhD, 858-764-4290, info@expansionrx.com

   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.)
   Recruiting Study of Pathogenesis and Progression in DM (STOPP-DM)
       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

Factors Associated With Hypoventilation in the Myotonic Dystrophy, Progressive Profile Over 5 Years
       Conditions: Myotonic Dystrophy, Steinert
       Location: Lille, France
       Sponsor: Hôpital Calmette, CHRU
       Contact: Thierry Perez, MD

   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: Bordeaux, France
          Montpellier, France
          Nice, France
          Nîmes, France
          Rennes, France
          Saint Brieuc, France
          Schiltigheim, France
          Toulouse, France
       Sponsor: University Hospital, Montpellier
       Contact: Marie Claire VINCENT, PhD-PharmaD, 411759879 ext 33
          Claire GUISSART, 411759879 ext 33
   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
   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


Myotonic Dystrophy Family Registry
       Conditions: All types of DM
       Location: Online/Global
       Sponsor: Myotonic Dystrophy Foundation


       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
   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


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


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


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
   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
   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
   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
   by invitation

       Conditions: All types of DM
       Location: Baltimore, MD
       Sponsor: Johns Hopkins University

   Not yet

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

   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"
   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

   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
   not recruiting
       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)
   not recruiting

       Conditions: DM1; myopathy; muscular weakness; respiratory insufficiency
       Location: Paris, France
       Sponsor: Assistance Publique - Hôpitaux de Paris

   Unknown German Language Screening Questionnaire for Symptoms of Respiratory Muscle Weakness and Sleep-disordered Breathing in Patients With Neuromuscular Disorders
       ConditionsGerman 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


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
   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



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