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Spinal fluid study aims to unlock secrets of rare muscle disease

NCT ID NCT06075693

Knowledge-focused Sponsor: Massachusetts General Hospital Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study looks at the spinal fluid and brain activity of people with myotonic dystrophy type 1, a condition that affects muscles and thinking. Researchers want to find early signs of disease in the fluid that surrounds the brain. About 88 adults will take part, including some without the disease for comparison. No treatment is given—the goal is to learn more and improve future diagnosis and care.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 88 people

The number the study aims to enrol. It can still change while the study runs.

Started

Aug 2022

Expected to finish

Aug 2028

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

1. Individuals with myotonic dystrophy type 1 (DM1), ages 18 and older. 2. Individuals without myotonic dystrophy (unaffected), ages 18 and older.

Ages

18 years and older

Sex

Anyone

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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.

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Conditions

The condition(s) this trial relates to.

myotonic dystrophy myotonic dystrophy type 1

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Myotonic dystrophy type-1

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    1 site. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • Massachusetts General Hospital

    RECRUITING

    Boston, Massachusetts, 02129, United States

More trials for these conditions

Other studies related to the condition(s) this trial covers.