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
Qualifiers
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 design
Treatments tested in this trial
- Non-interventional study
Treatment groups
100 Participants
are divided into 2 treatment groupsSponsors and collaborators
Wake Forest University Health Sciences
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
Collaborator
Source ClinicalTrials.gov