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Sound waves could spot early signs of rare muscle disease

NCT ID NCT07331025

What the study statuses mean

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Recruitment status, easiest to join first

Recruiting now
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 This study
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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 tested whether ultrasound can detect early facial muscle changes in people with facioscapulohumeral muscular dystrophy (FSHD), a rare muscle disease. Researchers compared 20 FSHD patients with 19 healthy adults, measuring muscle thickness and echo intensity in key facial muscles. The goal is to see if ultrasound can serve as a reliable, non-invasive tool to track disease progression where traditional exams fall short.

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 could provide a simple, non-invasive way to track facial muscle changes in FSHD, helping doctors monitor disease progression more accurately.
What could go wrong
This is a small, early study with only 20 patients, so results may not apply to everyone. Ultrasound findings need more research before they can be used in routine 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

39 people

The number who actually took part.

Started

Sep 2023

Finished

Feb 2024

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

The study population consisted of adults with genetically confirmed facioscapulohumeral muscular dystrophy type 1 and age- and sex-matched healthy volunteers. Participants were recruited from a tertiary neuromuscular disease center and underwent a single-session bilateral facial muscle ultrasound assessment.

Ages

18 to 55 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.

Inclusion Criteria: * Adults aged 18-55 years * Genetically confirmed facioscapulohumeral muscular dystrophy type 1 (FSHD1) (patient group) * Age- and sex-matched healthy volunteers without neuromuscular disease (control group) * Ability to provide written informed consent Exclusion Criteria: * Presence of other neurological or neuromuscular disorders * History of facial palsy or facial trauma * Botulinum toxin injection to facial muscles within the last 6 months * Inability to cooperate with ultrasound assessment

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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.

Contacts and locations

Locations

  • Koç University Hospital

    Istanbul, Istanbul, 34010, Turkey (Türkiye)

More trials for these conditions

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