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Explore information regarding enrollment for the REACH CDM Study for Congenital Myotonic Dystrophy

REACH CDM: A clinical study for Congenital Myotonic Dystrophy (Congenital DM1)

Clinical research sites are open and seeking patients to participate in a Phase 3 clinical study for 6 months, testing a new medicine, for Congenital Myotonic Dystrophy (Congenital DM1).

If your child or loved one has Congenital DM1, they may be able to take part.

Patients who qualify to take part will receive study-related care at no cost. Travel assistance and reimbursement may be available.

Your child or loved one may qualify if he/she:

  • Is 6 to 16 years old
  • Has Congenital DM1
  • Can swallow, or take by a gastrostomy tube, liquid study medicine

There are additional requirements to qualify. See if your loved one qualifies.

For a list of clinical study sites for the REACH CDM study, please click here.

About Congenital Myotonic Dystrophy (Congenital DM1)

Congenital DM1 (or CDM) is the most severe form of Myotonic Dystrophy Type 1 (DM1), a rare and serious multi-systemic neuromuscular disorder (a form of muscular dystrophy) that affects skeletal and smooth muscle as well as the heart, lungs, eyes, skin, gastrointestinal tract, and endocrine, reproductive, immune and central nervous systems.

The rarity of Congenital DM1 and its complex and variable presentation at birth makes it challenging to diagnose. Children born with Congenital DM1 can present with life-threatening symptoms including respiratory insufficiency (often requiring ventilator support), low muscle tone ('floppy baby syndrome'), feeding challenges (including the inability to suck and swallow), clubfeet (often requiring surgery and orthotic support), and slow motility of the gastrointestinal system.

Developmental Years
Newborns that survive their critical early challenges often begin to improve, gain strength, and meet many milestones with frequent and intensive, medical, educational, and therapeutic support. They will benefit from ongoing clinical, educational, and familial support throughout their developmental years and beyond.

Although children born with Congenital DM1 deal with severe challenges starting at birth, most parents describe their children as loving, generally happy, funny, smart, brave, and especially resilient.

Congenital DM1 symptoms may include the following:

  • Conduction (electrical) problems including arrhythmias (bradycardia, ventricular tachycardia, A-fib, A-flutter heart block, etc.), low blood pressure,┬áRaynaud's syndrome, clots/DVTs, heart muscle problems (less common).
  • Poor airway clearance, sleep apnea, Co2 retention, hypoventilation, frequent pneumonia, lung collapse, interstitial lung disease.
  • Cognitive impacts affecting decision-making and executive function, working memory, focus and attention, problem-solving, follow-through, apathy, organization and emotional regulation and behavior. Extreme fatigue, sleepiness, and autistic-like features or a dual diagnosis of autism. Diminished self- and community-awareness, impacting social interactions. A narrow scope of interest, perseveration, and sensory challenges.
  • Weakness, hypotonia (floppy), muscle wasting/atrophy (arms/legs/shoulders/neck), poor head control, myotonia/contractures, scoliosis, foot abnormalities such as foot drop causing tripping and falling, impaired mobility, muscle pain.
Oral Musculature - Speech/Communication
  • Weak oral musculature (mouth and facial muscles), feeding/swallowing issues, choking/aspiration risk, open (tented) lips and poor lip closure, reduced/poor intelligibility, diminished facial expression/affect (easy to misunderstand), increased secretions, abnormally high pallet, teeth problems.
  • Esotropia, hyperopia, amblyopia, strabismus, ptosis, cataracts (more common in adults).
Immune System
  • Low antibodies.
Endocrine and Reproductive System
  • Increased incidence of thyroid, parathyroid, and gonadal dysfunction, including small testes, low sperm count, premature balding, and low testosterone. Abnormal menses (premature, delayed, short (polymenorrhagia), irregular periods). Metabolic-associated liver disease and insulin resistance.
  • Higher risk of benign skin tumors (pilomatrixomas).

Frequently Asked Questions

  • What is a clinical study?

    A clinical study is a type of research that studies a medicine given to people. They are done to see how safe and helpful tests and medicines are. Clinical studies need to be done for all new tests and medicines. When clinical studies find the test or medicine is safe and helpful, the test or medicine may be approved and then made available to all patients. Clinical studies must follow a set of strict rules to keep patients safe and make sure that the research is completely properly. A Phase 3 study is one used to allow decisions about whether the medicine can be approved for prescription. This type of study looks at whether the medicine is safe and helps with treatment by showing effectiveness against symptoms.

  • Why participate in a clinical study?

    Choosing to participate in a clinical study is an important personal decision. Participation in a clinical study is voluntary. Below are a few reasons why people choose to take part in clinical research:

    • To help future patients by contributing to research and science.
    • To advance the understanding of a disease or condition.
    • To support the effort to make a new medicine available to patients who need treatment.
    • To gain access to potential new medicines before they become more widely available.

  • Will we be paid for taking part in this clinical study?

    Patients in this study will not be paid. The study medicine and study related costs or procedures not considered part of standard care for someone with Congenital DM1 will be free of charge. Travel, accommodation and other out-of-pocket costs directly associated with attending study visits will be reimbursed.

  • Who should I contact for more information?

    Children's Hospital London Health Sciences Centre (LHSC), London, Ontario, Canada
    Contact: Rhiannon Hicks   519-685-8441   rhiannon.hicks@lhsc.on.ca

    Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada
    Contact: Emilie Hill Smith   613-737-7600 ext 4014   EHillSmith@cheo.on.ca

    Arkansas Children's Hospital, Little Rock, Arkansas, United States
    Contact: Annette Guy   501-364-3380   guyea@archildrens.org

    Stanford University Palo Alto, California, United States
    Contact: Stanford Neuromuscular Research   650-725 4341   neuromuscularresearch@stanford.edu

    University of Iowa Hospitals and Clinics, Iowa City, United States
    Contact: Chandra Miller   319-384-9618   chandra-miller@uiowa.edu

    University of Rochester Medical Center, Rochester, New York, United States
    Contact: James Hilbert   585-273-5590   james_hilbert@URMC.Rochester.edu
    Contact: Jeanne Dekdebrun   585-276-4611   jeanne_Dekdebrun@URMC.Rochester.edu

    Virginia Commonwealth University Richmond, Virginia, United States, 23219
    Contact: Jodie Howell   804-828-6011   jodie.howell@vcuhealth.org
    Contact: Jessica St Romain   804-828-7887   mary.stromain@vcuhealth.org

    New Zealand Clinical Research (NZCR), Auckland, New Zealand, 1010
    Contact: Margaret Joppa   64 9 373 3474 ext 105   reach@nzcr.co.nz

    University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, United States, 15213
    Contact: Jennifer Monahan   412-692-5176   jennifer.monahan@chp.edu

    Children's Hospital of the King's Daughters, Norfolk, Virginia, United States, 23507
    Contact: Marina Hendricks   757-668-6417   Marina.Hendricks@CHKD.ORG

    University of California, Los Angeles (UCLA), Los Angeles, California, United States, 90095
    Contact: Dennis Fernando   310-825-3264   DeFernando@mednet.ucla.edu

    Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, United States
    Contact: Ishita Tejani   312-227-3019   itejani@luriechildrens.org

    Alternatively there is more information on the REACH CDM Study at: ClinicalTrials.gov.

    You can direct any questions you may have about the REACH CDM Study to: info@reachcdm.com.

    Caitlyn Daley

For a list of clinical study sites for the REACH CDM study, please click here.