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Longitudinal Study on Diaframmatic Ultrasound in FSHD Patients

NCT06078852 · Status: RECRUITING · Phase: NA · Type: INTERVENTIONAL · Enrollment: 34

Last updated 2025-09-08

No results posted yet for this 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.

Conditions

  • FSHD1
  • FSHD2

Interventions

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.

Sponsors & Collaborators

  • Fondazione Policlinico Universitario Agostino Gemelli IRCCS

    lead OTHER

Principal Investigators

  • Ricci Enzo · Fondazione Policlinico Gemelli IRCCS

Study Design

Allocation
NA
Purpose
DIAGNOSTIC
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2023-07-18
Primary Completion
2024-07-30
Completion
2026-07-30

Countries

  • Italy

Study Locations

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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 NCT06078852 on ClinicalTrials.gov