Longitudinal Study on Diaframmatic Ultrasound in FSHD Patients

Longitudinal Interventional Study on Diaphragmatic Ultrasound in Facioscapulohumeral Dystrophy (FSHD) Patients

The goal of this prospective, longitudinal, single-center study is to describe respiratory function in patients affected by FSHD at baseline and after one year using both diaphragmatic ultrasound and pulmonary function test. The primary questions this study aims to answer are:

1. How does respiratory function assessed by diaphragmatic ultrasound and pulmonary function tests change over 12 months in FSHD patients?
2. How accurate is diaphragmatic ultrasound in detecting respiratory abnormalities in these patients compared to pulmonary function tests?
3. What is the relationship between ultrasound and functional indices, and how do these indices correlate with demographic, clinical, and genetic data?

To achieve this, we will enroll a cohort of 34 patients affected by FSHD, and each of them will undergo a comprehensive neurological examination, body plethysmography, measurement of maximal inspiratory pressure (MIP) and maximal espiratory pressure (MEP) and nocturnal oximetry at baseline and after 12 months.

Study Overview

• Status: Recruiting
• Conditions: FSHD2; FSHD1
• Intervention / Treatment: Other: Diaphragmatic ultrasound; Other: Pulmonary function test

Detailed Description

Respiratory involvement is a recognized but underexplored manifestation of facioscapulohumeral muscular dystrophy (FSHD), reported in up to half of affected individuals. It is primarily related to weakness of the diaphragm and abdominal muscles, as well as to possible thoracic deformities. Traditional spirometric tests may underestimate early or mild inspiratory abnormalities, limiting their sensitivity for clinical monitoring. Diaphragmatic ultrasound has recently emerged as a promising tool to assess both trophism and contractility of the diaphragm. To date, only one small cross-sectional study has applied this technique in FSHD, showing reduced diaphragmatic parameters compared to controls, and no longitudinal data are currently available.

This study aims to provide the first prospective evaluation of diaphragmatic ultrasound in a cohort of genetically confirmed FSHD patients, with assessments performed at baseline and after one year of follow-up. By combining diaphragmatic ultrasound with standardized pulmonary function tests, body plethysmography, and respiratory muscle strength measurements, the study will comprehensively characterize respiratory involvement in FSHD and evaluate the potential role of ultrasound-derived indices as sensitive biomarkers.

The study design allows for the correlation of ultrasound findings with clinical and demographic characteristics, including disease duration, genetic features, and severity scores, as well as with conventional pulmonary outcomes. The longitudinal approach will clarify the ability of ultrasound to detect early or progressive respiratory impairment and its potential to complement or surpass routine respiratory function tests.

Ultimately, this project seeks to establish diaphragmatic ultrasound as a feasible and reproducible tool for the monitoring of respiratory function in FSHD. The expected results may inform the development of improved clinical guidelines for respiratory surveillance and contribute to early identification of patients who may benefit from targeted interventions, such as respiratory physiotherapy or non-invasive ventilation.

• Study Type: Interventional
• Enrollment (Estimated): 34
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Enzo Ricci; Phone Number: +390630157088; Email: enzo.ricci@policlinicogemelli.it
• Study Contact Backup: Name: Eleonora Torchia; Email: eleonora.torchia@unicatt.it

Study Locations

• Italy
  • Roma, Italy, 00168
    • Recruiting
    • Fondazione Policlinico Gemelli IRCCS
    • Contact: Enzo Ricci; Phone Number: +390630157088; Email: enzo.ricci@policlinicogemelli.it
    • Contact: Eleonora Torchia; Phone Number: +390630157088; Email: eleonora.torchia@unicatt.it

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: No

Description

Inclusion Criteria:

• Diagnosis of FSHD, genetically confirmed.
• Adult patients (18 years or older)
• Signature from the patient on the written informed consent document

Exclusion Criteria:

- Medical history of neck and mediastinal trauma and/or surgery and/or radiation therapy (e.g. total thyroidectomy, mastectomy) with evidence of phrenic nerve injury.

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Diagnostic
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: FSHD patients; Patients with genetically confirmed FSHD undergoing routine neurological and pneumological follow-up, who will be assessed with diaphragmatic ultrasound and standard pulmonary function tests at baseline and at 12 months.	Other: Diaphragmatic ultrasound; Ultrasound evaluation of diaphragm thickness, contractility, and excursion in semi-supine and sitting positions.; Other: Pulmonary function test; Routine spirometry, body plethysmography (FRC, TLC), maximal inspiratory/expiratory pressures (MIP, MEP), and nocturnal oximetry.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
One-year evaluation of the ultrasound diaphragmatic trophism	Diaphragmatic thickness (DT) after a normal expiration (basal-DT) and after a maximal inspiration (max-DT)	At enrollement and one year -follow-up
One-year evaluation of the ultrasound diaphragmatic contractility	Diaphragmatic thickening after a maximal inspiration determined as the difference between max-DT and basal-DT	At enrollement and one year -follow-up
One-year evaluation of the ultrasound diaphragmatic contractility (as ratio)	Diaphragmatic thickening after a maximal inspiration determined as the ratio of difference between max-DT and basal-DT to basal-DT	At enrollement and one year -follow-up
One-year evaluation of the ultrasound diaphragmatic excursion	Diaphragmatic excursion after a maximal inspiration	At enrollement and one year -follow-up

Collaborators and Investigators

• Sponsor: Fondazione Policlinico Universitario Agostino Gemelli IRCCS
• Investigators: Principal Investigator: Ricci Enzo, Fondazione Policlinico Gemelli IRCCS

Study record dates

Study Major Dates

• Study Start (Actual): July 18, 2023
• Primary Completion (Actual): July 30, 2024
• Study Completion (Estimated): July 30, 2026

Study Registration Dates

• First Submitted: July 10, 2023
• First Submitted That Met QC Criteria: October 5, 2023
• First Posted (Actual): October 12, 2023

Study Record Updates

• Last Update Posted (Estimated): September 8, 2025
• Last Update Submitted That Met QC Criteria: September 2, 2025
• Last Verified: November 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Nervous System Diseases; Genetic Diseases, Inborn; Musculoskeletal Diseases; Muscular Diseases; Neuromuscular Diseases; Muscular Disorders, Atrophic; Muscular Dystrophies; Muscular Dystrophy, Facioscapulohumeral; Circulatory and Respiratory Physiological Phenomena; Respiratory Physiological Phenomena
• Other Study ID Numbers: 5778

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No