Status:
RECRUITING
Cerebrospinal Fluid Biomarkers of Myotonic Dystrophy
Lead Sponsor:
Massachusetts General Hospital
Conditions:
Myotonic Dystrophy Type 1
Eligibility:
All Genders
18+ years
Brief Summary
Myotonic dystrophy is associated with central sleep apnea, excessive daytime sleepiness, diminished working memory, impaired visuospatial skills, and deficits in problem-solving skills. Cerebrospinal...
Eligibility Criteria
Inclusion
- Subjects with DM1 based on genetic testing and/or clinical criteria (some subjects who have positive genetic testing may be asymptomatic, while other subjects who show characteristic clinical features may have declined to have genetic testing done).
- Unaffected subjects are unknown to have myotonic dystropphy or any other muscular dystrophy by history and may have had no genetic testing.
- Clinical indicators of current status, as measured within 30 days of study start: Able to provide informed consent or assent for participation in the study.
- Demographic characteristics (e.g., biologic sex, age): Males and females age 18 years and older.
Exclusion
- Medical history of any of the following. State of immunosuppression; pre-existing liver or kidney disease; documented HIV positive; documented hepatitis B and/or C positive.
- Medications and other drugs. Use of anticoagulants within 60 days prior to lumbar puncture and/or blood draw. Use of anti-platelet drugs within 7 days prior to blood draw.
- Contraindications to MRI. The presence of any metal within the body, which would include any medical device containing metal, such as a pacemaker, defibrillator, some heart valves or stents, artificial joint, aneurysm clip, or inner ear device, a history of working with sheet metal, or an injury with metal shrapnel; pregnancy, due to effects of MRI on unborn children.
- Contraindications to Lumbar Puncture. Evidence of increased intracranial pressure or active infection on exam; platelets less than 50,000.
- Other. Inability or unwillingness of the subject to give written informed consent.
Key Trial Info
Start Date :
August 1 2022
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
August 1 2028
Estimated Enrollment :
88 Patients enrolled
Trial Details
Trial ID
NCT06075693
Start Date
August 1 2022
End Date
August 1 2028
Last Update
November 24 2025
Active Locations (1)
Enter a location and click search to find clinical trials sorted by distance.
1
Massachusetts General Hospital
Boston, Massachusetts, United States, 02129