Actively Recruiting
Brain Structure and Clinical Endpoints in Myotonic Dystrophy Type 2 (BraCE-DM2)
Led by Wake Forest University Health Sciences · Updated on 2026-02-02
100
Participants Needed
1
Research Sites
N/A
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
Researchers are investigating how myotonic dystrophy type 2 (DM2), a genetic muscle disorder, affects brain structure and cognitive function compared to myotonic dystrophy type 1 (DM1) and healthy individuals. This observational study focuses on understanding the brain changes and cognitive impairments reported by many DM2 patients, which impact quality of life. The study aims to identify brain imaging and biomarker measures that can guide future clinical trials and track disease progression and response to treatments in DM2 and DM1. Participants include adults with DM2, DM1, and healthy controls who will undergo a series of assessments. These include magnetic resonance imaging (MRI) scans of the brain to examine structure and white matter integrity, comprehensive cognitive and motor testing, self-reported questionnaires, and blood samples for biomarker analysis. A subgroup will also have lumbar punctures to collect cerebrospinal fluid for additional biomarker studies. The study compares these measures across the groups to understand differences and relationships. During the baseline visit, participants will have their medical history reviewed and neurological exams performed. Researchers will measure brain volumes and diffusion imaging metrics, assess various cognitive and motor functions using validated tests, and collect patient-reported outcomes on mood, fatigue, pain, and sleep. Blood and cerebrospinal fluid biomarkers will be analyzed to explore links with imaging and clinical measures. This detailed evaluation will help define brain changes and clinical endpoints relevant to myotonic dystrophy, with ongoing monitoring planned to support future trials.
CONDITIONS
Brief Title
Brain Structure and Clinical Endpoints in Myotonic Dystrophy Type 2
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Age 30 to 65 years old
- Diagnosis of DM1 or DM2 confirmed by genetic testing or clinical criteria with supportive family genetic results
- Symptoms or clinical signs of proximal muscle weakness for DM2 or distal muscle weakness and myotonia for DM1
- Ability to walk independently, with a cane or walking stick permitted
- Ability to provide informed consent for participation
- Healthy controls aged 30 to 65 years who ambulate independently and can provide informed consent
You will not qualify if you...
- Congenital or juvenile-onset DM1 (symptoms starting before age 20)
- Prior diagnosis of dementia, seizure, stroke, multiple sclerosis, Parkinson's Disease, or other neurodegenerative disorders
- Active psychiatric illness, alcohol or substance abuse
- Use of medications with sedative or cognitive side effects unless stable for 3 months before study
- Inability or unwillingness to give written informed consent
- Presence of pacemaker, defibrillator, or metal implants contraindicating MRI
- Claustrophobia
- Major medical illnesses preventing safe MRI or motor testing
- Pregnancy
- Weight over 400 pounds preventing proper MRI positioning
- For lumbar puncture: recent use of anti-platelet or anticoagulant medications, bleeding disorders, low platelet count, or hardware in lower back area
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - 1 day
Participants undergo baseline assessments including medical history review, neurological examination, brain MRI, cognitive and motor function tests, self-reported questionnaires, and blood collection for biomarker analysis.
1 baseline visit (in-person)
Duration - 1 day
A subset of participants who consent undergo a lumbar puncture to collect cerebrospinal fluid for additional biomarker analysis.
1 visit (in-person) for lumbar puncture
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
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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