Brain scans aim to unlock mysteries of muscle disease

NCT ID NCT05854433

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Not yet recruiting
Registered, but not yet taking participants.
By invitation only This study
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The trial has finished. Results may not be published yet.
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Cancelled before anyone took part.

Expanded access (not trials)

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Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
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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

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First seen Jun 27, 2026 · Last updated Jul 15, 2026 · Updated 2 times

Summary

This study looks at how myotonic dystrophy types 1 and 2 affect the brain. About 100 adults aged 30-65 will have MRI scans, thinking and movement tests, and blood draws. Some will also have a spinal tap. The goal is to find brain changes that could be used as markers in future treatment trials.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

What this could lead to
If successful, this study could identify brain imaging markers that help design better clinical trials for myotonic dystrophy treatments.
What could go wrong
This is an observational study, not testing a treatment. It may not lead directly to new therapies, and results may not apply to all patients.

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 100 people

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

Started

Apr 2023

Expected to finish

Jun 2027

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

Myotonic dystrophy is a rare disease with an estimated prevalence rate of 12.5/100,000 in both myotonic dystrophy type 1 (DM1) and DM2. There are no expected gender differences. Both men and women will be selected for this study.

Ages

30 to 65 years

Sex

Anyone

Healthy volunteers

Accepted

You do not need to have the condition being studied to take part.

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.

DM 2 Inclusion Criteria: * Age 30-65 years old * Diagnosis of DM1 or DM2 is based on genetic testing and/or clinical criteria. If the diagnosis is based on clinical criteria, positive DM2 genetic testing is required in first-degree relatives * Symptoms or clinical findings of proximal muscle weakness * Ambulate independently (a cane or walking stick is permitted) * Able to provide informed consent for participation in the study DM1 Inclusion Criteria: * Only individuals who are 30-65 years old will be eligible to participate for the full study protocol * Diagnosis of adult-onset DM1 is based on genetic testing or clinical criteria. If the diagnosis is based on clinical criteria, positive DM1 genetic testing is required in first-degree relatives * The onset of first symptoms must be between the 2nd and 4th decades of life * Symptoms or clinical findings of distal muscle weakness and myotonia * Ambulate independently (a cane or walking stick is permitted) * Able to provide informed consent for participation in the study DM 1 Exclusion Criteria: * Congenital or juvenile-onset DM1 (onset of first symptom \< 20-year-old) * Individuals with a prior diagnosis of dementia, seizure, stroke, multiple sclerosis, Parkinson's Disease, or other neurodegenerative diseases * Individuals with active psychiatric illness or alcohol/substance abuse. * On medications with substantial sedative or cognitive side effects unless the doses have been stable for at least 3 months before the study visit. * Inability or unwillingness to give written informed consent. DM 1 and 2 and Healthy Control (HC) Exclusion Criteria: * Individuals with a pacemaker, defibrillator, or metal implanted that is contraindicated for MRI * Individuals who are claustrophobic * Individuals with a prior diagnosis of dementia, seizure, stroke, multiple sclerosis, Parkinson's Disease, or other neurodegenerative diseases * Individuals with active psychiatric illness, alcohol or substance abuse, or dependence * Individuals with a pacemaker, defibrillator, or metal implanted that is contraindicated for MRI * Individuals who are claustrophobic * Major medical illness which would prevent safe testing of MRI or motor function. * On medications with substantial sedative or cognitive side effects unless the doses have been stable over the last 3 months before the study visit * pregnancy * Weight \> 400 pounds as the participant could not be properly positioned on the MRI table * Inability or unwillingness to give written informed consent * For participants who undergo lumbar puncture procedure: Use of anti-platelet medications within 7 days, use of anticoagulants such as warfarin (Coumadin), history of a bleeding disorders, evidence of platelet count \< 150,000 within the last 6 months, or have hardware (i.e., pins, screws, rods, etc.) in the lower back area Healthy Control (HC) Inclusion Criteria: * Age 30-65 years * Ambulate independently * Able to provide informed consent for participation in the study

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Conditions

The condition(s) this trial relates to.

As listed by the trial registrant

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

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

    The full official record for this study. This one lists no contact details, but it is the first place any would appear.

    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

  • Wake Forest University Health Sciences

    Winston-Salem, North Carolina, 27157, United States

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