Examining brain structure and cognitive function in myotonic dystrophy type 2
Brain Structure and Clinical Endpoints in Myotonic Dystrophy Type 2 (BraCE-DM2)
Wake Forest University Health Sciences · NCT05854433
This study is testing how myotonic dystrophy type 2 affects the brain and thinking skills in adults compared to healthy individuals.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 100 (estimated) |
| Ages | 30 Years to 65 Years |
| Sex | All |
| Sponsor | Wake Forest University Health Sciences (other) |
| Locations | 1 site (Winston-Salem, North Carolina) |
| Trial ID | NCT05854433 on ClinicalTrials.gov |
What this trial studies
This observational study investigates the impact of myotonic dystrophy type 2 (DM2) on brain structure and cognitive function. It involves a comprehensive assessment of 50 adults with DM2 and 50 healthy controls, utilizing advanced brain imaging techniques like MRI, alongside cognitive and motor performance evaluations. Participants will also provide blood samples for biomarker analysis, and a subset will undergo lumbar puncture for cerebrospinal fluid collection. The goal is to better understand the CNS manifestations of DM2 and inform future clinical trial designs.
Who should consider this trial
Good fit: Ideal candidates are adults aged 40 and older with a confirmed diagnosis of myotonic dystrophy type 2 and symptoms of proximal muscle weakness.
Not a fit: Patients with prior neurodegenerative diseases or major medical illnesses, as well as those with contraindications for MRI, may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and management of cognitive dysfunction in patients with myotonic dystrophy type 2.
How similar studies have performed: While there is limited literature on brain imaging in DM2, similar studies in other muscular dystrophies have shown promising results, indicating potential for success in this approach.
Eligibility criteria
Show full inclusion / exclusion criteria
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 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 DM 1 Exclusion Criteria: * 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. DM 1 and 2 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 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 Healthy Control (HC) Inclusion Criteria: * Age 30-65 years * Ambulate independently * Able to provide informed consent for participation in the study
Where this trial is running
Winston-Salem, North Carolina
- Wake Forest University Health Sciences — Winston-Salem, North Carolina, United States (RECRUITING)
Study contacts
- Principal investigator: Araya Puwanant, MD, MS — Wake Forest University Health Sciences
- Study coordinator: Constance Linville
- Email: clinvill@wakehealth.edu
- Phone: 336-716-4568
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Myotonic Dystrophy Type 2, Myotonic Dystrophy Type 1, myotonic dystrophy, muscular dystrophy, cognitive dysfunction, memory, brain, central nervous system