Actively Recruiting
Brain Structure and Clinical Endpoints in Myotonic Dystrophy Type 2
Led by Wake Forest University Health Sciences · Updated on 2026-02-02
100
Participants Needed
1
Research Sites
213 weeks
Total Duration
On this page
Sponsors
W
Wake Forest University Health Sciences
Lead Sponsor
N
National Institute of Neurological Disorders and Stroke (NINDS)
Collaborating Sponsor
AI-Summary
What this Trial Is About
Nearly two-third of patients with myotonic dystrophy type 2 (DM2) report that impaired cognition is among the most disabling symptoms and deeply affects their quality of life. Yet, relatively little is known about how DM2 affects brain structure and cognitive function as brain imaging studies in DM2 are extremely limited. This is a prospective, cross-sectional study of brain structure and function on cognitive and motor performance in patients with DM2 \& DM1 compared to healthy controls. All participants will undergo magnetic resonance imaging (MRI) to evaluate brain structure and white matter integrity, a comprehensive battery of cognitive and motor measures, self-reported questionnaires, and blood collection for brain-based biomarker analysis. A subset of participants will undergo lumbar puncture for cerebrospinal fluid (CSF) collection for additional biomarker analysis and validation. This work is critical to inform the development of rigorous clinical trial designs and plan for a longitudinal study to evaluate MRI measures as imaging biomarkers of disease progression and therapeutic response in DM2 \& DM1.
CONDITIONS
Official Title
Brain Structure and Clinical Endpoints in Myotonic Dystrophy Type 2
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Age 30-65 years old
- Diagnosis of DM1 or DM2 based on genetic testing or clinical criteria with positive genetic testing in first-degree relatives if clinical criteria used
- Symptoms or clinical findings of proximal muscle weakness
- Ability to walk independently (a cane or walking stick is allowed)
- Ability to provide informed consent
- Onset of DM1 symptoms must be between the 2nd and 4th decades of life (for DM1 participants)
You will not qualify if you...
- Congenital or juvenile-onset DM1 with symptom onset before 20 years old
- Diagnosis of dementia, seizure, stroke, multiple sclerosis, Parkinson's Disease, or other neurodegenerative diseases
- Active psychiatric illness or alcohol/substance abuse
- Use of medications with significant sedative or cognitive side effects unless stable for at least 3 months
- Inability or unwillingness to provide written informed consent
- Presence of pacemaker, defibrillator, or metal implants contraindicated for MRI
- Claustrophobia
- Major medical illness preventing safe MRI or motor testing
- Pregnancy
- Weight over 400 pounds
- For lumbar puncture: recent use of anti-platelet or anticoagulant medications, history of bleeding disorders, low platelet count, or hardware in lower back area
AI-Screening
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Trial Site Locations
Total: 1 location
1
Wake Forest University Health Sciences
Winston-Salem, North Carolina, United States, 27157
Actively Recruiting
Research Team
C
Constance Linville
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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