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 Jennifer Raymond at jennifer.raymond@vcuhealth.org or Ruby Langeslay at ruby.langeslay@vcuhealth.org.
Recruiting:
- University of Kansas, Kansas City, Kansas
- University of Rochester, Rochester, New York
- Virginia Commonweatlh University, Richmond, Virginia
- Ohio State University, Columbus, Ohio
- University of Florida, Gainesville, Florida
- Houston Methodist, Houston, Texas
- Stanford University, Stanford, California
- University of Iowa, Iowa City, Iowa
-
Centro Clinico NEMO, Milan, Italy
- Radboud University, Nijmegen, Netherlands
- Ludwig Maximilian University of Munich, Munich, Germany
- University College London, London, United Kingdom
- University of California Los Angeles, Los Angeles, California
- University Colorado Denver, Aurora, Colorado
- Auckland Direct Health Board, Auckland, New Zealand
- University of California San Diego, San Diego, California
- St. George's University London, London, England
- Universite de Sherbrooke, Quebec, Canada
- Osaka University, Osaka, Japan
- UT Health San Antonio, San Antonio, Texas
Status: Active, Recruiting
Global Study of Del-desiran for the Treatment of DM1 (HARBOR)
Conditions:
- Myotonic Dystrophy Type 1
- Clinical and genetic diagnosis (CTG repeat ≥ 100) of DM1
- Ability to walk independently (orthoses and ankle braces allowed) for at least 10 meters at screening
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, Stanford, CA
- University of Rochester Medical Center, Rochester, NY
- Ohio State University, Columbus, OH
- University of Pennsylvania, Philadelphia, PA
- Virginia Commonwealth University, Richmond, VA
Status: Active, Recruiting
Cerebrospinal Fluid Biomarkers of Myotonic Dystrophy
Conditions:
- Subjects with DM1 based on genetic testing and/or clinical criteria
- Unknown to have myotonic dystrophy or any other muscular dystrophy by history and may have had no genetic testing
- Clinical indicators of current status, as measured within 30 days of study start: Able to provide informed consent or assent for participation in the study
- Males and females age 18 years and older
Location: Massachusetts General Hospital
Sponsor: Massachusetts General Hospital
Contact: Tamkin Shahkari, M.D., Inc.at 617-726-7506 or by email at tshahraki@mgh.harvard.edu.
Status: Recruiting
Assessing Pediatric Endpoints in DM1 (ASPIRE-DM1)
Conditions: Congenital Myotonic Dystrophy, Childhood Myotonic Dystrophy
Location: Multiple Sites
Sponsor: Myotonic Dystrophy Clinical Research Network
Contact: PI Dr. Nicholas Johnson, see network coordinators' contact information below.
If you are interested in this research study, please contact Jennifer Raymond at jennifer.raymond@vcuhealth.org or Ruby Langeslay at ruby.langeslay@vcuhealth.org to be referred to a study site. See site-specific contact information below.
Locations:
- University of Kansas, Kansas City, Kansas
- Virginia Commonwealth University, Richmond, Virginia
- Centro Clinico NeMo Milano, Milan, Italy
- University of Rochester, Rochester, New York
- University of California Los Angeles, Los Angeles, California
Status: Recruiting
Safety, Tolerability, PK, and PD Study of PGN-EDODM1 in Participants With Myotonic Dystrophy Type 1 (FREEDOM-DM1)
Conditions: Myotonic Dystrophy Type 1
Location: Multiple Sites
Sponsor: PepGen Inc
Contact: PepGen Inc. at 781-797-0979 or by email at clinicaltrials@pepgen.com
See site-specific contact information below.
Locations:
- Rare Disease Research, LLC, Atlanta, Georgia, United States
Contact: Kallie Platt at 470-574-5717 or at Kallie.Platt@rarediseaseresearch.com - CIUSSS du Saguenay-Lac-Saint-Jean, Chicoutimi, Quebec, Canada
Contact: Patient Advocacy at clinicaltrials@pepgen.com
Status: Recruiting
REACH DM Kids
Conditions: Children diagnosed with congenital or childhood onset Myotonic Dystrophy Type 1
Location: Online Study in the US
Sponsor: University of Rochester, Rochester, NY
Contact: Study Coordinators Erin Richards or Jeanne Dekdebrun at REACHDM@URMC.Rochester.edu or (585)-275-0420.
Status: Recruiting
Study of ATX-01 in Participants With DM1 (ArthemiR)
Conditions: Participants with a documented clinical diagnosis of DM1 (CTG expansion of >150 repeats in DMPK gene measured in peripheral blood mononuclear cells). Ambulatory, defined as able to complete a 10-meter walk/run test at screening without the use of assistive devices such as canes, walkers, or orthoses, except for ankle-foot orthoses. Presence for >3 seconds of grip myotonia as confirmed by a central reader.
Location: Multiple
Sponsor: ARTHEx Biotech
Contact: Project manager at clinical@arthexbiotech.com or +34676229821. See site specific information below.
- University of Florida, Gainesville, FL
Status: Active, Not Active, Not Recruiting
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
- University of California Irvine, Irvine, CA
- University of Colorado, Aurora, CO
- University of South Florida, Tampa, FL
- Rare Disease Research, Atlanta, GA
- Indiana University, Indianapolis, IN
- University of Kansas Medical Center, Kansas City, KS
- Kennedy Krieger Institute Center for Genetic Muscle Disorders, Baltimore, MD
- Massachusetts General Hospital, Boston, MA
- University of Rochester Medical Center, Rochester, NY
- Wake Forest, Winston-Salem, NC
- Ohio Sleep Medicine and Neuroscience Institute, Dublin, OH
- NEW University of Cincinnati, Cincinnati, OH
- University of Pennsylvania, Philadelphia, PA
- University of Florida, Gainesville, FL
- University of Minnesota, Minneapolis, MN
- University of Washington, Seattle, WA
- Montreal Neurological Institute and Hospital, Montreal, Quebec Canada
- Hôpital de Chicoutimi, Chicoutimi, Quebec, Canada
- The Ottawa Hospital, Ottawa, Ontario, Canada
- Beaumont Hospital, Royal Oak, MI
- University of North Carolina, Chapel Hill, NC
- University of Texas Health Science Center, San Antonio, TX
Status: Active, Not 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:
- Little Rock, AR, Arkansas Children's Hospital
Annette Guy, 501-364-3380, guyea@archildrens.org - Palo Alto, CA, Stanford University
Stanford Neuromuscular Research, 650-725-4341, neuromuscularresearch@stanford.edu - Iowa City, IA, University of Iowa Hospitals and Clinics
Chandra Miller, 319-384-9618, chandra-miller@uiowa.edu - Rochester, NY, University of Rochester Medical Center
James Hilbert, 585-273-5590, james_hilbert@URMC.Rochester.edu
Jeanne Dekdebrun, 585-276-4611, jeanne_Dekdebrun@URMC.Rochester.edu - London, Ontario, Canada, Children's Hospital London Health Sciences Centre (LHSC)
Rhiannon Hicks, 519-685-8441, rhiannon.hicks@lhsc.on.ca - Ottawa, Ontario, Canada, Children's Hospital of Eastern Ontario
Emilie Hill Smith, 613-737-7600 ext 4014, EHillSmith@cheo.on.ca
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
Status: Recruiting
Brain Structure and Clinical Endpoints in Myotonic Dystrophy Type 2 (BraCE-DM2)
Conditions: Confirmed and symptomatic DM2, Ages 35+, no history of active psychiatric and neurological disorders, can walk 10-meter independently (cane and walking sticks are permitted), be able to participate in an MRI, and not pregnant.
Location: Winston-Salem, NC
Sponsor: National Institute of Health (NIH)
Contact: Constance Linville, 336-716-4568, clinvill@wakehealth.edu
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: Dr. Dixon at 801-585-7606 or at missy.dixon@genetics.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
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
Myotonic Dystrophy Family Registry
Conditions: All types of DM
Location: Online/Global
Sponsor: Myotonic Dystrophy Foundation
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 dystrophy_registry@urmc.rochester.edu
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
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
- Marie Benhammani-Godard; +33 (0)1 58 41 11 90; marie.godard@aphp.fr
Status: 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"
Contact:
- Vincenzo Russo, MD,PhD; 0817064149; v.p.russo@libero.it
- Andrea Antonio Papa, MD; 0817065158; andreaantoniopapa@libero.it
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: Recruiting
Trial Readiness and Endpoint Assessment in Congenital Myotonic Dystrophy (TREAT-CDM)
Conditions: Children up to age 15 with Congenital Myotonic Dystrophy
Location: Multiple sites
Sponsor:
- Virginia Commonwealth University
- Neuromuscular Omnicomprehensive Clinical Center
- University of Wetern Ontario
Contact:
If you are interested in this research study, please contact one of the study coordinators listed below or Jennifer Raymond at jennifer.raymond@vcuhealth.org or Ruby Langeslay at ruby.langeslay@vcuhealth.org.
- Virginia Commonweatlh University, Richmond, Virginia
Jodie Howell, Jodie.Howell@vcuhealth.org - Neuromuscular Research, Children's Hospital - LHSC, London, Ontaria, Canada
Delia Ceballos, CeballosSaenz@lhsc.on.ca - Centro Clinico Nemo, Milano, Italy 20162
Luca Mauro, luca.mauro@centrocliniconemo.it
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: Unknown
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: Unknown
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: Unknown
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: John W Day, MD, PhD; 650-725-4341; jwday@stanford.edu
Status: Unknown
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: Completed
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.
Locations:
- University of California Los Angeles (UCLA), Los Angeles, California
- Stanford University, Palo Alto, California
- University of Florida, Gainesville, Florida
- Kansas University Medical Center, Kansas City, Kansas
- University of Rochester Medical Center, Rochester, New York
- Ohio State University, Columbus, Ohio
- Virginia Commonwealth University, Richmond, Virginia
- University of Colorado, Denver, Colorado
Status: Completed
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: Unknown
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: Recruiting
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; matthias.boentert@ukmuenster.de
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; c.dedie@mumc.nl
Status: Completed
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
- Palo Alto, CA: Stanford, Dana McDonnell, danamc@stanford.edu, 650-407-7912
- Miami, FL: Sleep Medicine Specialists of South Florida, Maria Almanzar, malmanzar@southfloridasleeps.com, 786-499-7786
- Iowa City, IA: University of Iowa, Nicole Kressin, nicole-kressin@uiowa.edu, 319-678-8596
- Chevy Chase, MD: Center for Sleep & Wake Disorders, Valmire Valcéna, valmire@sleepdoc.com, 301-654-5665
Status: Completed
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: Completed
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
Status: Completed
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: Completed
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