Cerebrospinal Fluid Biomarkers of Myotonic Dystrophy

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

Study Overview

• Status: Recruiting
• Conditions: Myotonic Dystrophy Type 1

• Study Type: Observational
• Enrollment (Estimated): 88

Contacts and Locations

• Study Contact: Name: Tamkin Shahraki, MD; Phone Number: 617-726-7506; Email: tshahraki@mgh.harvard.edu

Study Locations

• United States
  • Massachusetts
    • Boston, Massachusetts, United States, 02129
      • Recruiting
      • Massachusetts General Hospital
      • Contact: Tamkin Shahraki, MD; Phone Number: 617-726-7506; Email: tshahraki@mgh.harvard.edu
      • Principal Investigator: Thurman M Wheeler, MD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: N/A

• 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.

Description

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.

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
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.
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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Extracellular RNA splice variants in biofluids	The extracellular RNA biomarkers in the muscular dystrophy groups will be evaluated and compared with the extracellular RNA content in control groups. Statistical analysis will be used to evaluate the sensitivity and specificity of these markers as measurements of disease activity and severity.	5 years

Collaborators and Investigators

• Sponsor: Massachusetts General Hospital
• Investigators: Principal Investigator: Thurman M Wheeler, MD, Massachusetts General Hospital

Study record dates

Study Major Dates

• Study Start (Actual): August 1, 2022
• Primary Completion (Estimated): August 1, 2027
• Study Completion (Estimated): August 1, 2028

Study Registration Dates

• First Submitted: October 4, 2023
• First Submitted That Met QC Criteria: October 4, 2023
• First Posted (Actual): October 10, 2023

Study Record Updates

• Last Update Posted (Actual): October 10, 2023
• Last Update Submitted That Met QC Criteria: October 4, 2023
• Last Verified: October 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Nervous System Diseases; Genetic Diseases, Inborn; Musculoskeletal Diseases; Muscular Diseases; Neuromuscular Diseases; Neurodegenerative Diseases; Muscular Disorders, Atrophic; Heredodegenerative Disorders, Nervous System; Muscular Dystrophies; Myotonic Disorders; Myotonic Dystrophy
• Other Study ID Numbers: 2021P002482

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No