Brain Structure and Clinical Endpoints in Myotonic Dystrophy Type 2

Launched by WAKE FOREST UNIVERSITY HEALTH SCIENCES · May 2, 2023

Keywords

ClinConnect Summary

This clinical trial is investigating how myotonic dystrophy type 2 (DM2), a condition that can cause muscle weakness and cognitive difficulties, affects brain structure and function. Researchers want to understand the connection between changes in the brain and the challenges patients face with thinking and movement. To do this, they will compare patients with DM2 to healthy individuals, using brain scans (MRI), cognitive tests, and questionnaires to gather information. Some participants will also provide cerebrospinal fluid samples for further analysis.

To participate, you must be at least 40 years old and have a confirmed diagnosis of DM2, along with some muscle weakness. You should be able to walk independently, even if you use a cane. If you meet these criteria, you may be eligible to join the study, which will help researchers design future clinical trials and improve our understanding of DM2. However, certain conditions, such as having a pacemaker or a history of specific neurological diseases, may exclude you from participation. Overall, this study aims to shed light on the brain's role in DM2 and how we can better support patients living with this condition.

Gender

ALL

Eligibility criteria

• DM2 Inclusion Criteria:
• • Age 40 and older
• • Diagnosis of 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
• DM2 and Healthy Control (HC) Exclusion Criteria:
• • 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 lbs as the subject 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
• Healthy Control (HC) Inclusion Criteria:
• • Age 40 and older
• • Ambulate independently
• • Able to provide informed consent for participation in the study