Longitudinal Study on Diaframmatic Ultrasound in FSHD Patients

Condition(s) studied

Investigational drug(s) / intervention(s)

Diaphragmatic ultrasound: Ultrasound evaluation of diaphragm thickness, contractility, and excursion in semi-supine and sitting positions.

Pulmonary function test: Routine spirometry, body plethysmography (FRC, TLC), maximal inspiratory/expiratory pressures (MIP, MEP), and nocturnal oximetry.

Study summary

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.

Eligibility

Primary outcome measure(s)

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

Trial sites (1)

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