Brain Structure and Clinical Endpoints in Myotonic Dystrophy Type 2
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age30-65
SponsorWake Forest University Health Sciences
About this trial
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.
Eligibility criteria
This trial accepts healthy volunteersQualifiers
Age 30-65 years old
Diagnosis of DM1 or DM2 is based on genetic testing and/or clinical criteria. If the diagnosis is based on clinical criteria, positive DM2 genetic testing is required in first-degree relatives
Symptoms or clinical findings of proximal muscle weakness
Ambulate independently (a cane or walking stick is permitted)
Disqualifiers
Congenital or juvenile-onset DM1 (onset of first symptom < 20-year-old)
Individuals with a prior diagnosis of dementia, seizure, stroke, multiple sclerosis, Parkinson's Disease, or other neurodegenerative diseases
Individuals with active psychiatric illness or alcohol/substance abuse.
On medications with substantial sedative or cognitive side effects unless the doses have been stable for at least 3 months before the study visit.
Trial population
Myotonic dystrophy is a rare disease with an estimated prevalence rate of 12.5/100,000 in both myotonic dystrophy type 1 (DM1) and DM2. There are no expected gender differences. Both men and women will be selected for this study.
Trial design
Design model
Cohort
Time perspective
Prospective
Treatments tested in this trial
Non-interventional study
Other interventionNo intervention will be administered as part of this study.
Treatment groups
100 Participants
are divided into 2 treatment groupsGroup A: Myotonic dystrophy types 1 and 21 intervention
Group B: Controls1 intervention
Trial outcomes
Primary outcomes
1
Measures of voxel-based brain morphometry
Measures of brain volume will be expressed as a ratio (0 to 1) to intracranial volume to create proportional values of brain volume.
Time frame
Baseline2
Fractional Anisotropy (FA)
FA is an index of non-uniform movement of water molecules ranging from 0 to 1. Higher values of FA indicate healthy, dense, and well-organized white matter fibers. Lower values of FA indicate less healthy white matter track.
Time frame
Baseline3
Radial Diffusivity (RD)
The value of apparent water diffusion coefficient in the direction perpendicular to the axonal fibers. The higher RD value indicates high dispersion of water and poorly-organized white matter fibers.
Time frame
Baseline4
Axial Diffusivity (AD)
The value of apparent water diffusion coefficient in the direction lying along with the axonal fibers. The higher AD value indicates greater extracellular water content consecutively to the impaired white-matter fibers health, and to alterations of axonal water content
Time frame
BaselineSecondary outcomes
1
NIH-Toolbox (TB) Cognitive Measures: Executive Function Domain Scores
Raw scores of Dimensional Card Sorting will be compared between groups. The higher score, the better executive function.
Time frame
Baseline2
NIH-TB: Executive Function/Attention Domain Scores
Raw scores of Flanker Inhibitory Control and Attention will be compared between groups. The higher score, the better attention and executive function.
Time frame
Baseline3
NIH-TB: Processing Speed Domain Scores
Raw scores of Pattern Comparison Processing Speed Test will be compared between groups. The higher score, the better processing speed.
Time frame
Baseline4
NIH-TB: Language Domain Scores
Raw scores of Oral Reading Recognition Test will be compared between groups. The higher score, the better language domain.
Time frame
BaselineSponsors and contacts
Click on the lead sponsor to view all of their trials.
Wake Forest University Health Sciences
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
Collaborator
Source ClinicalTrials.gov