Cerebrospinal Fluid Biomarkers of Myotonic Dystrophy

Launched by MASSACHUSETTS GENERAL HOSPITAL · Oct 4, 2023

Keywords

ClinConnect Summary

This clinical trial is studying myotonic dystrophy type 1, a condition that can affect sleep, memory, and problem-solving abilities. Researchers want to look at cerebrospinal fluid (CSF), which is a clear fluid that protects the brain, to see if changes in its makeup can help us understand how myotonic dystrophy affects brain function. By gathering this information, the study aims to improve diagnosis, treatment, and care for people with this condition.

To participate, individuals must be 18 years or older and have myotonic dystrophy confirmed by genetic testing or clinical signs. Unaffected individuals with no history of myotonic dystrophy may also be included. Participants will undergo low-risk tests, including a lumbar puncture—this is a procedure to collect CSF—along with brain activity assessments. The study is designed to be safe and well-tolerated, providing valuable insights that could lead to better ways of managing this condition.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • 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 Criteria:
• • 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.