An interventional study of Diaphragmatic ultrasound and Pulmonary function test in FSHD1 and FSHD2, sponsored by Fondazione Policlinico Universitario Agostino Gemelli IRCCS. Recruiting at 1 site in Italy. Open to participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2025-09-08.
Sponsored by Fondazione Policlinico Universitario Agostino Gemelli IRCCS · Not applicable, Interventional, and Diagnostic
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:
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.
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.
Fondazione Policlinico Universitario Agostino Gemelli IRCCS is the lead sponsor of 920 studies on the registry; 529 are open to participants now.
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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.
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 · Other: Pulmonary function test
Ultrasound evaluation of diaphragm thickness, contractility, and excursion in semi-supine and sitting positions.
Routine spirometry, body plethysmography (FRC, TLC), maximal inspiratory/expiratory pressures (MIP, MEP), and nocturnal oximetry.
One-year evaluation of the ultrasound diaphragmatic trophism
Diaphragmatic thickness (DT) after a normal expiration (basal-DT) and after a maximal inspiration (max-DT)
Time frame: 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
Time frame: 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
Time frame: At enrollement and one year -follow-up
One-year evaluation of the ultrasound diaphragmatic excursion
Diaphragmatic excursion after a maximal inspiration
Time frame: At enrollement and one year -follow-up
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Fondazione Policlinico Universitario Agostino Gemelli IRCCS