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Help Accelerate Myotonic Dystrophy Research

Myotonic Dystrophy Founation (MDF) community members have been active partners in bringing the research to this point, by supporting and participating in studies, joining registries, responding to surveys, and funding patient advocacy organizations like MDF. The progress achieved would not be possible without the commitment and participation of people living with myotonic dystrophy (DM), their families, caregivers and friends.

Join MDF in accelerating research toward treatments and a cure for myotonic dystrophy! Observational and natural history studies allow individuals to join registries or complete questionnaires, clinical trials allow individuals to join research into possible treatments and cures, and biobanks allow individuals living with DM to register their bodies for donation to DM science after they pass. Learn more about myotonic dystrophy research and how you can get involved below.

Click here to jump to actively recruiting myotonic dsytrophy trials.

Questions?

If you don’t see answers to your specific questions here, please send MDF an email. Keep in mind that some of your questions may not be answerable right now, either because the information is proprietary, could impact the success of trials if released, or isn’t known yet.

Clinical Trials FAQs

What are clinical trials?

Clinical trials are studies conducted using human participants to assess the safety and activity of new therapies in development. Clinical trials produce a lot of interest and excitement. It is important to realize, however, that just because an investigational compound is “tailor made” doesn’t mean that it will be safe or even effective; the purpose of a clinical trial is to find that out. This trial is an important first step, and all of us are interested in having it go well. Even if this medication does not work, we will learn as much as possible to guide the development of newer and better treatments in the future.

What are the different phases of clinical trials?

Clinical trials can be categorized into distinct phases depending upon the stage of clinical development of the drug. Phase I studies are the initial studies conducted in humans designed to primarily evaluate the safety and “pharmacokinetics” (the body’s reaction to a drug) in humans (often healthy humans). Phase II and III studies are larger, longer studies in affected individuals that continue to evaluate the safety of the drug as well as the activity and effectiveness of the drug prior to requesting regulatory agencies for marketing approval. Phase IV studies are studies designed to provide additional information about a drug that has been approved for marketing and is already available to qualified patients.

What is a placebo?

A placebo is an inactive drug administered to some of the patients (the placebo arm or control group) in a trial. This control group is essential as it provides a basis for comparison and for assessing the effects and efficacy of trial drugs. Well-controlled clinical studies, which often include placebo arms or groups, are necessary to establish the risk and benefit profile of the compound, as well as toevaluate the safety and tolerability of trial drugs.

What does "blinded" mean in a clinical trial?

A blinded clinical trial means you, your study doctor, and the study staff will not know if you have been given active drug or placebo. This helps to ensure that bias doesn't distort the conduct of the trial or the interpretation of the results.

Can trial participants discuss their results publicly?

We understand the community is eager to hear about results and the experiences of those participating, but sharing this information publicly can have a significant impact on the study, such as bias the results of a double-blind trial, potentially unblind the trial altogether, or even render the study inconclusive causing the trial to fail whether the treatment was effective or not. We know the community is anxious to get to effective treatments. We all have a role to play in making sure that we are supporting these clinical trial efforts.

Click here for more information on publicly discussing clinical trials.

Resources for Study & Trial Participants

Click on the links below to learn more about the clinical trials process, important do's and don'ts for current trial participants, and more.

Participate in Myotonic Dystrophy Research Remotely

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.

Myotonic Dystrophy Family Registry

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

 

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

 

Stanford Neuromuscular Biobank

Conditions: DM1; DM2; Congenital Myotonic Dystrophy Type 1
Location: Stanford, CA
Sponsor: Stanford University
Contact: Stanford Biobank, stanfordbiobank@lists.stanford.edu, (650) 497-9807

 

Share Your Myotonic Dystrophy Experiences with MyPaTH Story Booth

Conditions: DM1; DM2; CDM; & Caregivers
Location: Pittsburgh PA
Sponsor: University of Pittsburgh& the PaTH Clinical Research Network
Contact: mystory@pitt.edu

 

Myotonic Dystrophy Studies & 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. A list of current studies and trials can be accessed below. Click here to find all myotonic dystrophy associated studies on ClinicalTrials.gov.

Participate in Myotonic Dystrophy Clinical Trials

Study of AOC 1001 in Adult Myotonic Dystrophy Type 1 (DM1) Patients (MARINA)

Conditions: Myotonic Dystrophy Type 1
Location: Multiple sites
Sponsor: Avidity Biosciences, Inc.
Contact: Avidity Biosciences, Inc. at 858-771-7038 or by email at medinfo@aviditybio.com.

Recruiting:

  • Stanford University, Palo Alto, CA

  • University of Florida, Gainesville, FL

  • Kansas University Medical Center, Kansas City, KS

  • University of Rochester Medical Center, Rochester, NY

  • Virginia Commonwealth University, Richmond, VA

Not yet recruiting:

  • University of California Los Angeles (UCLA), Los Angeles, CA

  • University of Colorado, Denver, CO

  • Ohio State University, Columbus, OH

 

Safety and Efficacy of Pitolisant on Excessive Daytime Sleepiness and Other Non-Muscular Symptoms in Patients With Myotonic Dystrophy Type 1

Conditions: Myotonic Dystrophy Type 1
Location: Multiple sites
Sponsor: Harmony Biosciences, LLC
Contact: Ann Adee at 773-383-6258, Michelle Manuel at 847-903-4610, or email clinicaltrials@harmonybiosciences.com. See site-specific contact information below

Recruiting:

Not yet recruiting:

 

Efficacy and Safety of Tideglusib in Congenital Myotonic Dystophy

Conditions: Congenital Myotonic Dystrophy, ages 6 to 16, can swallow or can take liquid study medicine by a gastronomy tube.
Location: Multiple sites
Sponsor: AMO Pharma Limited
Contact: See each site

Recruiting:

Not yet recruiting:

  • Los Angeles, CA, University of California, Los Angeles (UCLA)
  • Pittsburgh, PA, Children's Hospital of the King's Daughters
  • Pittsburgh, PA, Virginia Commonwealth University - Department of Neurology. Muscular Dystrophy Translational Research Program
  • Newcastle Upon Tyne, United Kingdom, Newcastle University

 

Participate in Myotonic Dystrophy Obesrvational Studies

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 or Jeanne Dekdebrun at Jeanne_Dekdebrun@urmc.rochester.edu or Jessica St. Romain at Mary.StRomain@vcuhealth.org.

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

 

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

 

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

 

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

 

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

 

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

 

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

 

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

 

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

 

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: 

 

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"

 

Derivation of Human Induced Pluripotent Stem Cells to Heritable Cardiac Arrhythmias

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

 

Ongoing Myotonic Dystrophy Studies with a Suspended or Unknown Status

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

 

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

 

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)

 

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

 

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

 

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

 

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

 

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

 

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

 

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

 

Learn More About Completed Myotonic Dystrophy Studies

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

 

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.)

 

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:

 

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

 

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

 

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