Recruiting

Observational Study

Sponsor:

Massachusetts General Hospital

Code:

NCT06075693

Conditions

Myotonic Dystrophy Type 1

Eligibility Criteria

Sex: All

Age: 18+

Healthy Volunteers: Not accepted

Study Details

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

Conditions

Myotonic Dystrophy Type 1

Study ID

NCT06075693

Start date

Aug 1, 2022

Status verified date

Nov, 2025

Completion date

Aug 1, 2028

Anticipated

Primary completion date

Aug 1, 2027

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 18+

Healthy Volunteers: Not accepted

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 Design

Enrollment

88 participants

Anticipated

Interventions and Outcome Measures

Arms

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.

Primary outcome measure

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

Central Contacts and Locations

Central contacts

Tamkin Shahraki, MD

617-726-7506tshahraki@mgh.harvard.edu

Locations

Massachusetts General Hospital

Recruiting

Boston, Massachusetts, United States, 02129

Contacts

Tamkin Shahraki, MD

617-726-7506tshahraki@mgh.harvard.edu

Principal Investigator:

Thurman M Wheeler, MD

More Information

Sponsor

Massachusetts General Hospital

Last update posted

Nov 24, 2025

Last verified

Nov, 2025

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Massachusetts General Hospital on 2025-11-24.