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Brain Structure and Clinical Endpoints in Myotonic Dystrophy Type 2
Sponsor: Wake Forest University Health Sciences
Summary
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.
Official title: Brain Structure and Clinical Endpoints in Myotonic Dystrophy Type 2 (BraCE-DM2)
Key Details
Gender
All
Age Range
30 Years - 65 Years
Study Type
OBSERVATIONAL
Enrollment
100
Start Date
2023-04-26
Completion Date
2027-06
Last Updated
2026-02-02
Healthy Volunteers
Yes
Interventions
Non-interventional study
No intervention will be administered as part of this study.
Locations (1)
Wake Forest University Health Sciences
Winston-Salem, North Carolina, United States