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.
- 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.
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.
- Conduction (electrical) problems including arrhythmias (bradycardia, ventricular tachycardia, A-fib, A-flutter heart block, etc.), low blood pressure, Raynaud'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.
- 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).
- Low antibodies.
- 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).