Brain Structure and Clinical Endpoints in Myotonic Dystrophy Type 2
Brain Structure and Clinical Endpoints in Myotonic Dystrophy Type 2 (BraCE-DM2)
Wake Forest University Health Sciences
100 participants
Apr 26, 2023
OBSERVATIONAL
Conditions
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.
Eligibility
Inclusion Criteria14
- 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)
- Able to provide informed consent for participation in the study
- Only individuals who are 30-65 years old will be eligible to participate for the full study protocol
- Diagnosis of adult-onset DM1 is based on genetic testing or clinical criteria. If the diagnosis is based on clinical criteria, positive DM1 genetic testing is required in first-degree relatives
- The onset of first symptoms must be between the 2nd and 4th decades of life
- Symptoms or clinical findings of distal muscle weakness and myotonia
- Ambulate independently (a cane or walking stick is permitted)
- Able to provide informed consent for participation in the study
- Age 30-65 years
- Ambulate independently
- Able to provide informed consent for participation in the study
Exclusion Criteria17
- 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.
- Inability or unwillingness to give written informed consent.
- Individuals with a pacemaker, defibrillator, or metal implanted that is contraindicated for MRI
- Individuals who are claustrophobic
- Individuals with a prior diagnosis of dementia, seizure, stroke, multiple sclerosis, Parkinson's Disease, or other neurodegenerative diseases
- Individuals with active psychiatric illness, alcohol or substance abuse, or dependence
- Individuals with a pacemaker, defibrillator, or metal implanted that is contraindicated for MRI
- Individuals who are claustrophobic
- Major medical illness which would prevent safe testing of MRI or motor function.
- On medications with substantial sedative or cognitive side effects unless the doses have been stable over the last 3 months before the study visit
- pregnancy
- Weight \> 400 pounds as the participant could not be properly positioned on the MRI table
- Inability or unwillingness to give written informed consent
- For participants who undergo lumbar puncture procedure: Use of anti-platelet medications within 7 days, use of anticoagulants such as warfarin (Coumadin), history of a bleeding disorders, evidence of platelet count \< 150,000 within the last 6 months, or have hardware (i.e., pins, screws, rods, etc.) in the lower back area
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Interventions
No intervention will be administered as part of this study.
Locations(1)
View Full Details on ClinicalTrials.gov
For the most up-to-date information, visit the official listing.
NCT05854433