Examining cerebrospinal fluid in myotonic dystrophy
Cerebrospinal Fluid Biomarkers of Myotonic Dystrophy
This study is trying to see how changes in the fluid around the brain relate to brain activity in people with Myotonic Dystrophy Type 1 and healthy individuals.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 88 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | Massachusetts General Hospital Academic / other |
| Locations | 1 site (Boston, Massachusetts) |
| Trial ID | NCT06075693 on ClinicalTrials.gov |
What this trial studies
This observational study aims to investigate the relationship between cerebrospinal fluid (CSF) biomarkers and brain activity in individuals with Myotonic Dystrophy Type 1. Participants will undergo low-risk tests to analyze changes in CSF composition, which may provide insights into the neurological aspects of the condition. The study includes both affected individuals and healthy controls to better understand the disease's impact on brain function. The findings could enhance the evaluation, prevention, diagnosis, and treatment of myotonic dystrophy.
Who should consider this trial
Good fit: Ideal candidates include individuals aged 18 and older with a confirmed diagnosis of Myotonic Dystrophy Type 1 or unaffected individuals with no history of muscular dystrophy.
Not a fit: Patients with significant medical history such as immunosuppression or liver/kidney disease may not benefit from this study.
Why it matters
Potential benefit: If successful, this research could lead to improved diagnostic and treatment strategies for myotonic dystrophy.
How similar studies have performed: While the specific approach of examining CSF biomarkers in myotonic dystrophy is novel, similar studies in other neurological conditions have shown promising results.
Eligibility criteria
Show full inclusion / exclusion 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.
Where this trial is running
Boston, Massachusetts
- Massachusetts General Hospital — Boston, Massachusetts, United States (Recruiting)
Study contacts
- Principal investigator: Thurman M Wheeler, MD — Massachusetts General Hospital
- Study coordinator: Tamkin Shahraki, MD
- Email: tshahraki@mgh.harvard.edu
- Phone: 617-726-7506
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.