Cerebrospinal Fluid Biomarkers of Myotonic Dystrophy

Part of paid clinical trials in Boston, Massachusetts.

Sponsor
Massachusetts General Hospital
Study ID
NCT06075693
Status
Recruiting
Apply to this trial

Conditions

  • Myotonic Dystrophy Type 1

Eligibility Criteria

Sex
ALL
Age
18 Years - N/A
Healthy Volunteers
Not accepted

Study Details

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

Key Dates

Start date
Aug 1, 2022
Status verified
Nov 2025
Primary completion
Aug 1, 2027
Completion
Aug 1, 2028

Study Design

Enrollment
88 participants (estimated)

Arms

  • Arm: Longitudinal
    We will ask eligible volunteers to provide a CSF sample by a lumbar puncture procedure, a urine sample, undergo a cognitive assessment, and to undergo an MRI scan once per year for two years.
  • Arm: Single
    We will ask eligible volunteers to provide a CSF sample by a lumbar puncture procedure, a urine sample, undergo a cognitive assessment, and to undergo an MRI scan once.

Primary Outcome Measure

Extracellular RNA splice variants in biofluids [ Time Frame: 5 years ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
Massachusetts General HospitalBostonMassachusetts02129
Tamkin Shahraki, MD
[email protected]
617-726-7506
Thurman M Wheeler, MD (PRINCIPAL_INVESTIGATOR)

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By research site
Massachusetts General Hospital· Boston, MA

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