Clinical trial NCT06075693: Cerebrospinal Fluid Biomarkers of Myotonic Dystrophy
Official title: Cerebrospinal Fluid Biomarkers of Myotonic Dystrophy
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Myotonic Dystrophy Type 1
Lead sponsor: Massachusetts General Hospital
Sponsor class: OTHER
First posted: 2023-10-10
Enrollment: 88
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: 1. Individuals with myotonic dystrophy type 1 (DM1), ages 18 and older.
2. Individuals without myotonic dystrophy (unaffected), ages 18 and older.

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 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


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.

Primary outcomes:
measure: Extracellular RNA splice variants in biofluids
timeFrame: 5 years
Secondary outcomes:
Other outcomes:
Locations:
city: Boston
country: United States
facility: Massachusetts General Hospital
state: Massachusetts
Study officials:
affiliation: Massachusetts General Hospital
name: Thurman M Wheeler, MD
role: PRINCIPAL_INVESTIGATOR
References: