Brain Structure and Clinical Endpoints in Myotonic Dystrophy Type 2

Part of paid clinical trials in Winston-Salem, North Carolina.

Sponsor
Wake Forest University Health Sciences
Study ID
NCT05854433
Status
Recruiting
Apply to this trial

Conditions

  • Myotonic Dystrophy Type 1
  • Myotonic Dystrophy Type 2

Eligibility Criteria

Sex
ALL
Age
30 Years - 65 Years
Healthy Volunteers
Accepted

Interventions

  • Non-interventional study — OTHER
    No intervention will be administered as part of this study.

Study Details

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.

Key Dates

Start date
Apr 26, 2023
Status verified
Jan 2026
Primary completion
Jun 30, 2027
Completion
Jun 30, 2027

Study Design

Enrollment
100 participants (estimated)

Arms

  • Arm: Myotonic dystrophy types 1 and 2
    Adults with myotonic dystrophy types 1 and 2 who meet all inclusion and exclusion criteria for the study. To be assessed at the baseline visit: Medical history and a focused neurological examination, brain MRI, a comprehensive Clinical Assessment Battery (CAB) of cognitive and motor measures, self-reported questionnaires, strength and motor function evaluation, and blood drawn for biomarker analysis. A subset of the participants who agree to have cerebrospinal fluid (CSF) collection for additional biomarker analysis will undergo lumbar puncture procedure.
  • Arm: Controls
    Healthy individuals who meet all inclusion and exclusion criteria for healthy controls. To be assessed at the baseline visit: Medical history and a focused neurological examination, brain MRI, a comprehensive Clinical Assessment Battery (CAB) of cognitive and motor measures, self-reported questionnaires, strength and motor function evaluation, and blood drawn for biomarker analysis. A subset of the participants who agree to have cerebrospinal fluid (CSF) collection for additional biomarker analysis will undergo lumbar puncture procedure.

Primary Outcome Measure

Measures of voxel-based brain morphometry [ Time Frame: Baseline ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
Wake Forest University Health SciencesWinston-SalemNorth Carolina27157
Constance Linville
[email protected]
336-716-4568
Araya Puwanant, MD, MS (PRINCIPAL_INVESTIGATOR)

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Wake Forest University Health Sciences· Winston-Salem, NC

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