Brain Structure and Clinical Endpoints in Myotonic Dystrophy Type 2 (BraCE-DM2)
Wake Forest University Health Sciences
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.
Description
Myotonic dystrophy type 2 (DM2), autosomal dominant muscular dystrophy, is characterized by late-onset proximal muscle weakness, myotonia, and multisystem features. Although muscle weakness is the key symptom, almost 70% of patients with DM2 report that impaired cognition is among the most disabling symptoms and affects their quality of life. This condition causes severe disability and impaired quality of life similar to those in myotonic dystrophy type 1 (DM1).Small literature describes cognitive deficits and cerebral white matter involvement in those with DM2, compared to controls. However,…
Eligibility
- Age range
- 30–65 years
- Sex
- All
- Healthy volunteers
- Yes
DM 2 Inclusion Criteria: * 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 DM1 Inclusion Criteria: * Only individuals who are 30-65 years old will be eligible to participate for the full study protocol * Diagnosis of adult-onset DM1 is base…
Interventions
- OtherNon-interventional study
No intervention will be administered as part of this study.
Location
- Wake Forest University Health SciencesWinston-Salem, North Carolina