Find a clinical trial

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
  Rebecca Clay, rclay@kumc.edu
• University of Rochester, Rochester, New York
  Jim Hilbert, James_Hilbert@URMC.Rochester.edu
• Virginia Commonweatlh University, Richmond, Virginia
  Carino Jennings, Carino.Garza@vcuhealth.org
• Ohio State University, Columbus, Ohio
  Kaneshia Hives, Kaneshia.Hives@osumc.edu, 614-685-5661
• University of Florida, Gainesville, Florida
  Whitney Miller, Whitney.Miller@neurology.ufl.edu
• Houston Methodist, Houston, Texas
  KaDeesia Brown, Kbrown5@houstonmethodist.org
• University of Iowa, Iowa City, Iowa
  Maegan Tyrrell, maegan-tyrrell@uiowa.edu
• Centro Clinico NEMO, Milan, Italy
  Erica di Natale, erica.dinatale@centrocliniconemo.it
• Radboud University, Nijmegen, Netherlands
  Monique Plieger, Monique.Plieger@radboudumc.nl
• München, Germany
  Corinna Wirner-Piotrowski, Corinna.Wirner@med.uni-muenchen.de
• University College London, London, United Kingdom
  Nikoletta Nikolenko, n.nikolenko@nhs.net
• St. George’s University, London, England, Claire Gilmartin, Claire.Gilmartin@stgeorges.nhs.uk
• University of California Los Angeles, Los Angeles, California
  Dennis Fernando, DeFernando@mednet.ucla.edu
• Stanford University, Stanford, California
  Sarah Ismail, sismail@stanford.edu
• University of California San Diego, San Diego, California
  Mariah Stechschulte, mastechschulte@health.ucsd.edu
• University Colorado Denver, Aurora, Colorado
  Alyssa Avilez, alyssa.avilez@cuanschutz.edu
• UT Health San Antonio, San Antonio, Texas
  Marlon Tamayo-Muradas, tamayomurada@uthscsa.edu
• University of Auckland, Auckland, New Zealand
  Sarah Nagar, sarah.nagar@auckland.ac.nz
• Université de Sherbrooke, Sherbrooke, Quebec
  Camélia Dubois, CameliaDubois@cegepjonquiere.ca
• Aomori – Osaka, Japan
  Eri Ikeda, eri.ikeda@verlieben.jp

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.

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
• st, 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

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

Conditions: Confirmed and symptomatic DM2, Ages 40+, 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

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

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

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

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

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:

• CIUSSS du Saguenay-Lac-Saint-Jean, Chicoutimi, Quebec, Canada
  Contact: Jessica Tremblay at 418-541-1000 ext 2824 or at jessica.tremblay.agt@ssss.gouv.qc.ca
• University of Calgary, Calgary, Alberta, Canada, T2N 4Z6
  Contact: Patient Advocacy at 781-797-0979 or at clinicaltrials@pepgen.com
• University College London Hospitals NHS Foundation Trust, London, UK, United Kingdom
  Contact: Patient Advocacy at 781-797-0979 or clinicaltrials@pepgen.com
• Ottawa Hospital Research Institute (OHRI), Ottawa, Ontario, Canada
  Contact: Jessica MacGregor at 613-798-5555 ext 19627 or jemacgregor@ohri.ca

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

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

Conditions: Myotonic Dystrophy Type 1
Location:  Multiple
Sponsor:  Dyne Therapeutics
Contact:  Dyne Clinical Trials at clinicaltrials@dyne-tx.com or +1-781-317-1919. See site specific information below.

• Institut de Myologie, Paris, France
• CHU de Nantes, Nantes, France
• Ludwig Maximilians University, Munich – Friedrich Baur Institut, Munich, Germany
• Centro Clinico Nemo, Milan, Italy
• Fondazione Policlinico Universitario A Gemelli-Rome, Rome, Italy
• Radboud Medical Center, Nijmegen, Netherlands
• NZCR Auckland, Auckland, New Zealand
• University College London Hospitals, London, United Kingdom
• John Walton Muscular Dystrophy Research Centre, Newcastle upon Tyne, United Kingdom
• Salford Royal Hospital, Salford, United Kingdom
• Fitzroy, Victoria, Australia
• Indianapolis, IN, US
• Iowa City, IA, US
• Denton, TX, US

Conditions: Myotonic Dystrophy Type 1, 8 to 50 years of age
Location: Multiple sites
Sponsor: Sanofi

Recruiting:

• Norman Fixel Institute for Neurological Diseases, Gainesville, FL, US
• University of South Florida, Tampa, FL, US
• Columbia University Irving Medical Center, NY, US

Conditions: Confirmed and symptomatic DM2 and DM1, Ages 30-65, no history of active psychiatric and neurological disorders, can walk 10 meters 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: Dr. Araya Puwanant or Constance Linville, 336-716-4568, Martha.Linville@Advocatehealth.org

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, US
• Virginia Commonwealth University, Richmond, Virginia, US
• University of Kansas Medical Center, Kansas City, Kansas, US
• Centre Intégré Universitaire de Santé et Services, Chicoutimi, Quebec, Canada
• Institute of Myologie, Paris, France
• NeMO Clinical Center, Milan, Italy
• Fondazione Policlinico A. Gemelli-IRCCS, Rome, Italy
• Hospital Universitario Donostia, Spain

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

Conditions:

• Documented clinical diagnosis of DM1 with age of onset greater than (>) 1 year of age and documented positive genetic test for DM1 in the subject with cytosine thymine guanine (CTG) repeat of at least 100
• No history of any illness or any clinical condition as pre-specified in the protocol. Other protocol defined Inclusion/Exclusion criteria may apply.
• Males and females age 18 years to 64 years

Location: Multiple Sites
Sponsor: Vertex
Contact: Vertex at 617-341-6777 or by email at medicalinfo@vrtx.com.

Recruiting:

• Stanford Neuromuscular Research, Stanford, CA, US
• University of Florida Clinical Research Center, Gainesville, FL, US
• University of Kansas Medical Center, Fairway, KS, US
• Boston Children’s Hospital, Boston, MA, US
• Washington University School of Medicine / St Louis Children’s Hospital, St Louis, MO, US
• Wake Forest Baptist Health, Winston-Salem, NC, US
• University of Pennsylvania, Philadelphia, PA, US
• Virginia Commonwealth University, VA, US
• Wesley Research Institute, Auchenflower, Australia
• Neuroscience Clinical Trials Unit, Melbourne, Australia
• Universitaire Ziekenhuizen Leuven, Leuvin, Belgium
• Hopital de Chicoutimi, Chicoutimi, Canada
• Altasciences Montreal, Montreal, Canada
• McGill University, Montreal, Canada
• University of Ottawa, Ottawa, Canada
• CHU Research Centre of Quebec, Quebec, Canada
• Neuromuscular Reference Center Institute of Myology, Paris, France
• Ludwig Maximilians Universities Muenchen, Muenchen, Germany
• Centro Clinico NeMo, Milan, Italy
• Maastricht University Medical Center, Maastricht, Netherlands
• Hospital Universitario y Politécnico La Fe, Valencia, Spain
• Clinical Research Facility, Queen Elizabeth University, Glasgow, UK
• Leonard Wolfson Experimental Neurology Centre CRF, London, UK
• St. George’s University Hospital, London, UK
• Salford Royal Hospital, Salford, UK
• Royal Hallamshire Hospital, Sheffield, UK

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.

Conditions:

• Genetically confirmed Myotonic Dystrophy Type 2
• 18-80 years old
• BMI ≥20 and ≤30
• Walk without any assistance or device
• No falls in the past 6 months, no syncopal episodes, no pacemaker, not pregnant

Location: Massachusetts General Hospital
Contact: Blanca Escauriaza, RN at bescauriaza@mgh.harvard.edu or Zoe Sheitman, PT at zsheitman@mgh.harvard.edu

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 dystrophy_registry@urmc.rochester.edu

Conditions: DM1
Location: Stanford, CA
Sponsor: Stanford University
Contact: Stanford Neuromuscular Research Line (650)725-4341

Conditions: DM1
Location: Newcastle and London
Sponsor: Newcastle-upon-Tyne Hospitals NHS Trust
Contact: Nikoletta Nikolenko, M.D., Ph.D., +4478 7051 7410

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

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

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

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

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.)

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

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

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

Conditions: Adults with DM2
Location: Nijmegen, Netherlands
Sponsor: Radboud University
Contact: Baziel G van Engelen, MD, PhD, +(31)024 361 43 08

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

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

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

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

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

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

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

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)

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

Conditions: DM1
Location: Grenoble, France
Sponsor: University Hospital, Grenoble
Contact: Amina Fontanell, +33 4 76 76 76 62