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Longitudinal Study on Diaframmatic Ultrasound in FSHD Patients

ConditionsFSHD1FSHD2
Trial statusRecruiting
Trial phaseNot applicable
Trial typeInterventional
Biological sexAll
Age18+
SponsorFondazione Policlinico Universitario Agostino Gemelli IRCCS

About this trial

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 criteria

This trial does not accept healthy volunteers

Qualifiers

Diagnosis of FSHD, genetically confirmed.

Adult patients (18 years or older)

Signature from the patient on the written informed consent document

Disqualifiers

None

Trial design

Design model

Single group

Treatments tested in this trial

  • Diaphragmatic ultrasound

    Other intervention

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

  • Pulmonary function test

    Other intervention

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

Treatment groups

34 Participants
are divided into 1 treatment group
Group A: FSHD patientsExperimental treatment 2 interventions

Trial outcomes

Primary outcomes

1

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
2

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
3

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
4

One-year evaluation of the ultrasound diaphragmatic excursion

Diaphragmatic excursion after a maximal inspiration

Time frame
At enrollement and one year -follow-up

Secondary outcomes

Other outcomes

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Lead sponsor

Source ClinicalTrials.gov
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