Facioscapulohumeral Muscular DystrophyFACIAL-FSHDNCT07331025
Ultrasound Detection of Early Facial Muscle Changes in FSHD: Thickness and Echo Intensity Findings
An observational study of Facioscapulohumeral Muscular Dystrophy and Facioscapulohumeral Muscular Dystrophy 1, run by Koç University at 1 site in Turkey (Türkiye).
Trial summary
Facioscapulohumeral muscular dystrophy (FSHD) is characterized by early and significant involvement of facial muscles; however, objective imaging data focusing on facial muscles are limited. Read more about this study
- Who is it for?
- Ages 18 to 55 yearsHealthy volunteers can take part
- Conditions the study is for
- Facioscapulohumeral Muscular Dystrophy, Facioscapulohumeral Muscular Dystrophy 1, Neuromuscular Disease
- How many people
- 39 participants
- Where
- 1 siteTurkey (Türkiye)
- Study dates
- 1 Sep 2023to 15 Feb 2024
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 55 years
- All sexes
- Healthy volunteers accepted
- Adult
Study population: 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.
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
Turkey (Türkiye)1 site
Koç University Hospital
Istanbul, Istanbul, 34010
About this study
Official title: Ultrasound Detection of Early Facial Muscle Changes in FSHD: Thickness and Echo Intensity Findings - A Cross-Sectional Comparison With Healthy Adults
Facioscapulohumeral muscular dystrophy (FSHD) is characterized by early and significant involvement of facial muscles; however, objective imaging data focusing on facial muscles are limited. Facial ultrasound can serve as a sensitive imaging biomarker and outcome measure by capturing regional structural changes in facial muscles associated with disease progression in FSHD patients.
The aim of this study is to compare facial muscle thickness and echo density between FSHD patients and healthy controls using ultrasound and to examine the relationships between ultrasound findings and clinical parameters.
Read more
This study will include 20 patients with genetically confirmed FSHD1 diagnosis and 19 age- and sex-matched healthy controls. Using musculoskeletal ultrasound, bilateral evaluation of selected facial muscles (Orbicularis oculi, orbicularis oris, zygomaticus major, and buccinator) will be performed by two different researchers, and muscle thickness and muscle echo density will be recorded. Inter-rater reliability will be assessed using intraclass correlation coefficients. Group comparisons and correlation analyses will be performed with clinical scores, symptom duration, and D4Z4 repeat size.
The results will evaluate whether ultrasound can reliably detect structural changes in FSHD that cannot be captured by traditional clinical assessments, and if significant, will suggest that ultrasound can serve as a sensitive imaging biomarker for early and region-specific facial muscle involvement in FSHD.
Read the detailed description
Facioscapulohumeral muscular dystrophy (FSHD) is a hereditary neuromuscular disorder characterized by progressive muscle weakness, showing early and significant involvement of facial muscles. Despite their diagnostic and functional importance, facial muscles are often underrepresented in imaging-based assessments of disease involvement. This observational, cross-sectional study was designed to compare structural changes in selected facial muscles of individuals with genetically confirmed FSHD with healthy controls using musculoskeletal ultrasound. The study focuses on the quantitative assessment of muscle thickness and the qualitative assessment of muscle echo density as indicators of atrophy and fat infiltration. Bilateral ultrasound examinations will be performed on facial muscles, including the orbicularis oculi, orbicularis oris, zygomaticus major, and buccinator muscles, which play a role in facial expression and oral function. Imaging findings will be evaluated in relation to clinical features to investigate whether facial muscle ultrasound can provide region-specific information not captured by global disease severity scores. This study aims to characterize facial muscle involvement using a non-invasive and accessible imaging method, contribute to the understanding of early and subclinical facial muscle changes in FSHD, and support the potential role of ultrasound as an imaging biomarker in neuromuscular disorders.
- Conditions
- Facioscapulohumeral Muscular Dystrophy, Facioscapulohumeral Muscular Dystrophy 1, Neuromuscular Disease
- Keywords
- facioscapulohumeral muscular dystrophy, facial muscles, muscle ultrasound, muscle echogenicity, muscle thickness, imaging biomarker
- Medical subject headings
- Muscular Dystrophy, Facioscapulohumeral, Neuromuscular Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| FSHD patients | Individuals with genetically confirmed facioscapulohumeral muscular dystrophy type 1 who underwent bilateral facial muscle ultrasound assessment. No intervention was applied. | |
| Healthy Controls | Age- and sex-matched healthy volunteers without neuromuscular disease. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Facial muscle thickness measured by ultrasound
Bilateral thickness (in millimeters) of the orbicularis oculi, orbicularis oris (superficial and deep layers), zygomaticus major, and buccinator muscles measured using B-mode musculoskeletal ultrasound at standardized anatomical reference points.
Measured: Baseline
Facial muscle echo intensity
Muscle echogenicity of the same facial muscles assessed bilaterally using the Modified Heckmatt Scale (grades 1-4) to evaluate structural changes and fatty infiltration on B-mode ultrasound images.
Measured: Baseline
Secondary outcomes (1)
Inter-rater reliability of facial muscle ultrasound measurements
Agreement between independent raters assessed using intraclass correlation coefficients for facial muscle thickness and echo intensity measurements.
Measured: Baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted9 Jan 2026
- Study start1 Sep 2023
- Primary completion20 Dec 2023
- Study completion15 Feb 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Facioscapulohumeral Muscular DystrophyStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Prospective
- Enrolment
- 39 participants (actual)
Sponsor and investigators
- Lead sponsor
- Koç University
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Havvanur Albayrak, Koç University
- Investigators
- Havvanur Albayrak, Principal investigator, Koç University School of Medicine
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07331025
- Sponsor's protocol ID
- 2023.278.IRB1.092
- Other IDs
- 2023.278.IRB1.092
- Acronym
- FACIAL-FSHD
- Status last verified
- Dec 2025
- First submitted
- 17 Dec 2025
- Last updated
- 9 Jan 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: Individual participant data will not be shared due to the small sample size, the rare disease nature of the study population, and the potential risk of participant re-identification. In addition, specific informed consent for public data sharing was not obtained.
Study at a glance
From the registry record, last updated by the sponsor on 9 Jan 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Ultrasound Detection of Early Facial Muscle Changes in FSHD: Thickness and Echo Intensity Findings - A Cross-Sectional Comparison With Healthy Adults
- ClinicalTrials.gov ID
- NCT07331025
- Acronym / sponsor ID
- FACIAL-FSHD / 2023.278.IRB1.092
- Conditions
- Facioscapulohumeral Muscular Dystrophy, Facioscapulohumeral Muscular Dystrophy 1, Neuromuscular Disease
- Keywords
- facioscapulohumeral muscular dystrophy, facial muscles, muscle ultrasound, muscle echogenicity, muscle thickness, imaging biomarker
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 39 participants (actual)
- Lead sponsor
- Koç UniversityUniversity, hospital or other
- Study start
- 1 Sep 2023 (actual)
- Primary completion
- 20 Dec 2023 (actual)
- Study completion
- 15 Feb 2024 (actual)
- First posted
- 9 Jan 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Facioscapulohumeral muscular dystrophy (FSHD) is characterized by early and significant involvement of facial muscles; however, objective imaging data focusing on facial muscles are limited. Facial ultrasound can serve as a sensitive imaging biomarker and outcome measure by capturing regional structural changes in facial muscles associated with disease progression in FSHD patients.
The aim of this study is to compare facial muscle thickness and echo density between FSHD patients and healthy controls using ultrasound and to examine the relationships between ultrasound findings and clinical parameters.
This study will include 20 patients with genetically confirmed FSHD1 diagnosis and 19 age- and sex-matched healthy controls. Using musculoskeletal ultrasound, bilateral evaluation of selected facial muscles (Orbicularis oculi, orbicularis oris, zygomaticus major, and buccinator) will be performed by two different researchers, and muscle thickness and muscle echo density will be recorded. Inter-rater reliability will be assessed using intraclass correlation coefficients. Group comparisons and correlation analyses will be performed with clinical scores, symptom duration, and D4Z4 repeat size.
The results will evaluate whether ultrasound can reliably detect structural changes in FSHD that cannot be captured by traditional clinical assessments, and if significant, will suggest that ultrasound can serve as a sensitive imaging biomarker for early and region-specific facial muscle involvement in FSHD.
Detailed description
Facioscapulohumeral muscular dystrophy (FSHD) is a hereditary neuromuscular disorder characterized by progressive muscle weakness, showing early and significant involvement of facial muscles. Despite their diagnostic and functional importance, facial muscles are often underrepresented in imaging-based assessments of disease involvement. This observational, cross-sectional study was designed to compare structural changes in selected facial muscles of individuals with genetically confirmed FSHD with healthy controls using musculoskeletal ultrasound. The study focuses on the quantitative assessment of muscle thickness and the qualitative assessment of muscle echo density as indicators of atrophy and fat infiltration. Bilateral ultrasound examinations will be performed on facial muscles, including the orbicularis oculi, orbicularis oris, zygomaticus major, and buccinator muscles, which play a role in facial expression and oral function. Imaging findings will be evaluated in relation to clinical features to investigate whether facial muscle ultrasound can provide region-specific information not captured by global disease severity scores. This study aims to characterize facial muscle involvement using a non-invasive and accessible imaging method, contribute to the understanding of early and subclinical facial muscle changes in FSHD, and support the potential role of ultrasound as an imaging biomarker in neuromuscular disorders.
Study design
- Observational model
- Other
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| FSHD patients | – | –Individuals with genetically confirmed facioscapulohumeral muscular dystrophy type 1 who underwent bilateral facial muscle ultrasound assessment. No intervention was applied. |
| Healthy Controls | – | –Age- and sex-matched healthy volunteers without neuromuscular disease. |
Who may qualify
- Ages
- 18 to 55 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult
- Study population
- 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.
Key inclusion criteria (4 listed)
- 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
Key exclusion criteria (4 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Facial muscle thickness measured by ultrasound
Time frame: Baseline
Bilateral thickness (in millimeters) of the orbicularis oculi, orbicularis oris (superficial and deep layers), zygomaticus major, and buccinator muscles measured using B-mode musculoskeletal ultrasound at standardized anatomical reference points.
Facial muscle echo intensity
Time frame: Baseline
Muscle echogenicity of the same facial muscles assessed bilaterally using the Modified Heckmatt Scale (grades 1-4) to evaluate structural changes and fatty infiltration on B-mode ultrasound images.
1 secondary outcome
Inter-rater reliability of facial muscle ultrasound measurements
Time frame: Baseline
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 9 Jan 2026.
- Individual participant dataSharing planned: No. Individual participant data will not be shared due to the small sample size, the rare disease nature of the study population, and the potential risk of participant re-identification. In addition, specific informed consent for public data sharing was not obtained.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Havvanur Albayrak principal investigator
Koç University School of Medicine
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Facioscapulohumeral Muscular Dystrophy and Facioscapulohumeral Muscular Dystrophy 1, run by Koç University at 1 site in Turkey (Türkiye).
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 9 Jan 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Turkey (Türkiye). Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Facial muscle thickness measured by ultrasound (time frame: Baseline). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 9 Jan 2026.