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Brain Structure and Clinical Endpoints in Myotonic Dystrophy Type 2

NCT05854433 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 100

Last updated 2026-02-02

No results posted yet for this study

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.

Conditions

Interventions

OTHER

Non-interventional study

No intervention will be administered as part of this study.

Sponsors & Collaborators

  • National Institute of Neurological Disorders and Stroke (NINDS)

    collaborator NIH

  • Wake Forest University Health Sciences

    lead OTHER

Principal Investigators

  • Araya Puwanant, MD, MS · Wake Forest University Health Sciences

Eligibility

Min Age
30 Years
Max Age
65 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2023-04-26
Primary Completion
2027-06-30
Completion
2027-06-30

Countries

  • United States

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05854433 on ClinicalTrials.gov