Ultrasound Detection of Early Facial Muscle Changes in FSHD: Thickness and Echo Intensity Findings

NCT07331025 | Completed

• 1 other identifier: 2023.278.IRB1.092
• Study Type: observational
• Target: 39
• Locations: 1 country
• Sites: 1

Brief 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. 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.

Conditions

Neuromuscular Disease; Facioscapulohumeral Muscular Dystrophy; Facioscapulohumeral Muscular Dystrophy 1

Keywords

facioscapulohumeral muscular dystrophy; facial muscles; muscle ultrasound; muscle echogenicity; muscle thickness; imaging biomarker

Outcome Measures

Primary Outcomes (2)

• 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.

  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.

  Baseline

Secondary Outcomes (1)

• Inter-rater reliability of facial muscle ultrasound measurements

  Baseline

Study Arms (2)

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.

Eligibility Criteria

• Age: 18 Years - 55 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64)
• Sampling Method: Non-Probability Sample

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.

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Koç University: lead

Study Sites (1)

Koç University Hospital

Istanbul, Istanbul, 34010, Turkey (Türkiye)

Location

MeSH Terms

Conditions

Muscular Dystrophy, Facioscapulohumeral; Neuromuscular Diseases

Condition Hierarchy (Ancestors)

Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Havvanur Albayrak

  Koç University School of Medicine

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Physical Medicine and Rehabilitation Specialist

Study Record Dates

• First Submitted: December 17, 2025
• First Posted: January 9, 2026
• Study Start: September 1, 2023
• Primary Completion: December 20, 2023
• Study Completion: February 15, 2024
• Last Updated: January 9, 2026

Record last verified: 2025-12

Data Sharing

• IPD Sharing: Will not share

Locations

TU (1)