Actively Recruiting
Cerebrospinal Fluid Biomarkers of Myotonic Dystrophy
Led by Massachusetts General Hospital · Updated on 2025-11-24
88
Participants Needed
1
Research Sites
52 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Myotonic dystrophy type 1 is linked to central sleep apnea, excessive daytime sleepiness, and challenges with memory, visuospatial skills, and problem-solving. Researchers are studying the disease by examining cerebrospinal fluid (CSF), which surrounds and protects the brain, to find early changes in brain activity and function. This observational study aims to improve our understanding of myotonic dystrophy, which may help with future evaluation, prevention, diagnosis, and treatment. The study is sponsored by Massachusetts General Hospital and funded by the FDA OOPD. Participants will be asked to provide a CSF sample through a lumbar puncture, a urine sample, complete a cognitive assessment, and have an MRI scan. These procedures will be done once per year for two years in the longitudinal group, while the single group will complete them once. The lumbar puncture and MRI are low-risk procedures and are well tolerated. During the study, participants will undergo assessments including cognitive tests, MRI brain scans, and sample collections to monitor extracellular RNA splice variants in biofluids over five years. Researchers will also evaluate clinical and demographic data. Participation involves yearly visits with MRI and sample collection, lasting up to two years, with outcomes measured through the changes detected in the brain and CSF. Safety and ability to consent are monitored throughout the study.
CONDITIONS
Brief Title
Cerebrospinal Fluid Biomarkers of Myotonic Dystrophy
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Subjects with myotonic dystrophy type 1 based on genetic testing and/or clinical criteria
- Unaffected subjects with no known myotonic dystrophy or other muscular dystrophy by history
- Able to provide informed consent or assent for participation
- Males and females age 18 years and older
You will not qualify if you...
- Medical history of immunosuppression, liver or kidney disease, documented HIV, or hepatitis B and/or C
- Use of anticoagulants within 60 days prior to lumbar puncture or blood draw
- Use of anti-platelet drugs within 7 days prior to blood draw
- Presence of metal in the body such as pacemaker, defibrillator, heart valves, stents, artificial joints, aneurysm clips, or inner ear devices
- Pregnancy
- Evidence of increased intracranial pressure or active infection
- Platelet count less than 50,000
- Inability or unwillingness to provide written informed consent
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
Duration - Up to 2 years
Participants provide cerebrospinal fluid by lumbar puncture, urine samples, undergo cognitive assessments, and MRI scans.
1 to 2 visits depending on cohort assignment (single or longitudinal)
Trial Site Locations
Total: 1 location
1
Massachusetts General Hospital
Boston, Massachusetts, United States, 02129
Actively Recruiting
Research Team
T
Tamkin Shahraki, MD
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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