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

NCT07331025 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 39

Last updated 2026-01-09

No results posted yet for this study

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

Sponsors & Collaborators

  • Koç University

    lead OTHER

Principal Investigators

  • Havvanur Albayrak · Koç University School of Medicine

Eligibility

Min Age
18 Years
Max Age
55 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2023-09-01
Primary Completion
2023-12-20
Completion
2024-02-15

Countries

  • Turkey (Türkiye)

Study Locations

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Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT07331025 on ClinicalTrials.gov