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Study & Trial Resource Center

Our community is involved in the first clinical trial of a targeted therapy for myotonic dystrophy, and a number of other critical studies are underway. Click on the links below and to the right to learn more about the clinical trials process, important do's and don'ts for current trial participants, and more. A list of current studies and trials can be accessed below.

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 DM, their families, caregivers and friends.


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.

If you would like to contact Ionis Pharmaceuticals or AMO Pharma directly about their DM1 clinical trials, click here to send Ionis an email, and here for AMO Pharma. 

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.



   Recruiting  Study of Pathogenesis and Progression in DM (STOPP-DM)
     Conditions: DM2 still open for enrollment; DM1 enrollment is closed
     Location: University of Rochester, Rochester, NY
     Sponsor: NIH
     Conditions: Children and Adults (12-45 years old) diagnosed with 
       congenital or juvenile-onset type 1 myotonic dystrophy (DM-1)
     Location: Newcastle, United Kingdom 
     Sponsor: AMO Pharma Limited
       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)



   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)



  Sleep Breathing Disorders, a Main Trigger for Cardiac 
       Arrhythmias in Type 1 Myotonic Dystrophy
       Conditions: DM1
       Location: Grenoble, France
       Sponsor: University Hospital, Grenoble



  Stanford Myotonic Dystrophy Recruitment Database
       Conditions: Diagnosis of myotonic dystrophy
       Location: Stanford, CA
       Sponsor: Stanford University,
       Contact: Katharine Hagerman, (650) 723-9574



  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: Jennie Perez at 650-529-5471



  Insulin Resistance and Insulin Secretion in Patients with Myotonic Dystrophy
       Conditions: DM1
       Location: Stanford, CA
       Sponsor: Stanford University
       Contact: Jennie Perez at 650-529-5471



  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: Jennie Perez at 650-529-5471



   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: PhenoDM1 is Newcastle Hospitals NDF Foundation Trust
   National Registry for DM and FSHD
       Conditions: All types of DM
       Location: Online/Global
       Sponsor: National Institutes of Health
  Recruiting   Non Invasive Prenatal Testing of Single-Gene Disorders
       Conditions: All types of DM
       Location: Maastricht, Netherlands
       Sponsor: Maastricht University Medical Center
  not recruiting
  Clinical Efficacy Trial of Mexiletine for Myotonic Dystrophy 
  Type 1

       Conditions: DM1
       Location: Rochester, NY
       Sponsor: University of Rochester
   not recruiting
     Multicenter Observational Study of DM1
       Conditions: onset of DM1 after age 10
       Location: Palo Alto, CA; Gainesville, FL;
          Kansas City, KS; Bethesda, MD; Rochester, NY;
          Columbus, OH
       Sponsor: University of Rochester
       in Adults with DM1
       Conditions: DM1
       Location: Palo Alto, CA; Gainesville, FL; Kansas City, KS;
          Baltimore, MD; Rochester, NY; Columbus, OH;
          Salt Lake City, UT
       Sponsor: Ionis Pharmaceuticals, Inc.
   Completed    Efficacy and Tolerance of AVAPS Mode in DM
       Conditions: DM1
       Location: Paris, France
       Sponsor: Centre d'Investigation Clinique et Technologique
   This study has been terminated    European Home Mechanical Ventilation Registry
       Conditions: All types of DM
       Location: Online/Global
       Sponsor: ResMed
   not recruiting
       in Congenital Myotonic Dystrophy (HELP-CDM)
       Conditions: DM1 (onset at birth)
       Location: Salt Lake City, UT
       Sponsor: University of Utah
   by invitation
       to Heritable Cardiac Arrhythmias
       Conditions: All types of DM
       Location: Baltimore, MD
       Sponsor: Johns Hopkins University
   Completed    Lamotrigine as Treatment for Myotonia
       Location: Copenhagen, Denmark
       Sponsor: Grete Andersen, MD

   not recruiting

   Observational Prolonged Trial in DM1
       Conditions: DM1
       Location: Paris, France; Munich, Germany; Nijmegen,
          Netherlands; Newcastle, United Kingdom
       Sponsor: Radboud University
   not recruiting
       Non Invasive Ventilation in Adults with DM1
 DM1; myopathy; muscular weakness; respiratory
       Location: Paris, France
       Sponsor: Assistance Publique - Hôpitaux de Paris
   not recruiting
   Arrhythmias in Myotonic Muscular Dystrophy
       Conditions: Adult DM
       Location: Multiple locations across US
       Sponsor: Indiana University School of Medicine


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.

For more information on discussing clinical trials publicly, please click here.

Resources for study & trial participants

If you have additional questions about the clinical trial process, please contact MDF.


Ionis Pharmaceuticals has developed an antisense drug (IONIS-DMPKRx) for the potential treatment of DM1. DM1 is caused by an abnormal expansion of three nucleotide repeats within the DMPK gene. The severity and age of onset of DM1 correlates with the number of triplet repeats, which increases from one generation to the next.


The genetic defect in the DMPK gene creates a toxic RNA rather than a disease-causing protein. The toxic RNA accumulates within the nucleus of the cell and prevents the production of proteins essential for normal cellular function. IONIS-DMPKRx is designed to target the toxic RNA and reduce its accumulation, thereby restoring normal cellular function. In animal studies, Ionis Pharmaceuticals showed that an antisense compound targeting the DMPK RNA entered muscle cells and significantly reduced the toxic RNA.

Effective reductions of toxic RNA led to a reversal of the disease symptoms, mainly myotonia, that was sustained for up to one year after treatment in a mouse model of DM1. Hence by removing toxic RNA, IONIS-DMPKRx was studied as a potentially effective approach to treating patients with DM1. 

Phase I Trial Summary

Ionis Pharmaceuticals has completed a Phase I study evaluating the safety of IONIS-DMPKRx in healthy volunteers. In this study, IONIS-DMPKRx was well tolerated at all dose levels tested with no safety or tolerability concerns. The compound was delivered by a subcutaneous injection. All study participants completed the study.

A Phase I/IIa study to evaluate the safety and dose-range finding of IONIS-DMPKRx in patients with DM1 has completed. 

Phase I/II Trial Summary

Results from the Phase I/II Trial study were announced on January 5, 2017: Ionis Pharmaceuticals Reports DMPKRx Phase 1/2 Trial Results. Ionis Pharmaceuticals and Biogen also released a letter to the DM community in January 2017.

Click here to see the Ionis Pharmaceuticals drug development pipleline. 


AMO Pharma, Ltd. has developed a glycogen synthase 3 beta (GSK3β) inhibitor (tideglusib or AMO-02) for the potential treatment of children, adolescents and adults with congenital- and juvenile-onset DM1.

What is AMO – Tideglusib?

DM1 is caused by a mutation in the DMPK gene that alters gene splicing and production of proteins essential for normal cell function. The DMPK mutation is accompanied by increased levels of the enzyme GSK3β. Tideglusib acts to inhibit the increase in GSK3β. By inhibiting GSK3β, AMO Pharma hopes tideglusib could mitigate downstream changes in gene splicing, protein production and thereby serve as a treatment for DM1.

Tideglusib was originally developed by Noscira, S.A. for other indications. Information about the drug’s safety and efficacy profile is available from Noscira’s prior studies. AMO Pharma acquired and repurposed tideglusib to study in DM1 based on its activity on GSK3β and studies supporting a role for GSK3β in the disease.

Phase 2 Trial

AMO Pharma is launched a Phase 2 study of Tideglusib in summer 2016 to evaluate the safety and efficacy of two different doses for treatment of adolescent and adult congenital- and juvenile-onset DM1. The study is currently open for enrollment at the Newcastle Upon Tyne Hospitals NHS Trust (Newcastle, U.K.) for subjects aged between 12 and 45 years. To be included, subjects must have a genetically confirmed diagnosis of congenital- or juvenile-onset DM1, a Clinical Global Impression – Severity (CGI-S) score of 4 or greater, and be able to walk and able to complete a 10 meter walk/run test. Subjects will receive drug for 14 weeks. The primary outcome of the study is assessment of adverse events of tideglusib.

Study details are available at clinicaltrials.gov or www.amo-pharma.com.


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