Actively Recruiting
Cerebrospinal Fluid Biomarkers of Myotonic Dystrophy
Led by Massachusetts General Hospital · Updated on 2025-11-24
88
Participants Needed
1
Research Sites
313 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Myotonic dystrophy is associated with central sleep apnea, excessive daytime sleepiness, diminished working memory, impaired visuospatial skills, and deficits in problem-solving skills. Cerebrospinal fluid (CSF) is a clear, colorless fluid that surrounds and protects the brain. Changes in the composition of CSF can serve as early indicators of changes in brain activity and function. The purpose of this research is to learn about myotonic dystrophy by examining cerebrospinal fluid and brain activity in participants. The tests will be low risk and are well tolerated. The information that we gather from this study may help us evaluate, prevent, diagnose, treat, and improve our understanding of myotonic dystrophy. Funding Source- FDA OOPD
CONDITIONS
Official Title
Cerebrospinal Fluid Biomarkers of Myotonic Dystrophy
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Subjects with myotonic dystrophy type 1 confirmed by genetic testing or clinical criteria
- Unaffected subjects with no history or known diagnosis of myotonic dystrophy or other muscular dystrophies
- Able to provide informed consent or assent
- Males and females aged 18 years and older
- Clinical status assessed within 30 days of study start
You will not qualify if you...
- History of immunosuppression, liver or kidney disease, HIV, hepatitis B or C
- Use of anticoagulants within 60 days before lumbar puncture or blood draw
- Use of anti-platelet drugs within 7 days before blood draw
- Contraindications to MRI such as metal implants, pacemaker, defibrillator, certain heart valves or stents, artificial joints, aneurysm clips, inner ear devices, history of working with sheet metal, or metal injuries
- Pregnancy
- Contraindications to lumbar puncture including increased intracranial pressure, active infection, or low platelet count (less than 50,000)
- Inability or unwillingness to give written informed consent
AI-Screening
AI-Powered Screening
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Trial Site Locations
Total: 1 location
1
Massachusetts General Hospital
Boston, Massachusetts, United States, 02129
Actively Recruiting
Research Team
T
Tamkin Shahraki, MD
CONTACT
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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