FSHD1NCT06078852
Longitudinal Study on Diaframmatic Ultrasound in FSHD Patients
A study testing Diaphragmatic ultrasound and Pulmonary function test in people with FSHD1 and FSHD2, run by Fondazione Policlinico Universitario Agostino Gemelli IRCCS at 1 site in Italy.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and older
- What is being tested?
- Diaphragmatic ultrasound and Pulmonary function test
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 34 participants
- Where
- 1 siteItaly
- Study dates
- 18 Jul 2023to 30 Jul 2026
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- Diagnosis of FSHD, genetically confirmed.
- Adult patients (18 years or older)
- Signature from the patient on the written informed consent document
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Eleonora Torchia contact
Italy1 site, 1 recruiting
- Recruiting
Fondazione Policlinico Gemelli IRCCS
Roma, 00168
Enzo Ricci, +390630157088, enzo.ricci@policlinicogemelli.it
Eleonora Torchia, +390630157088, eleonora.torchia@unicatt.it
About this study
Official title: 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:
- How does respiratory function assessed by diaphragmatic ultrasound and pulmonary function tests change over 12 months in FSHD patients?
- How accurate is diaphragmatic ultrasound in detecting respiratory abnormalities in these patients compared to pulmonary function tests?
- 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.
Read the 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.
- Being tested
- Diaphragmatic ultrasound, Pulmonary function test
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Diaphragmatic ultrasoundOther
Ultrasound evaluation of diaphragm thickness, contractility, and excursion in semi-supine and sitting positions.
Pulmonary function testOther
Routine spirometry, body plethysmography (FRC, TLC), maximal inspiratory/expiratory pressures (MIP, MEP), and nocturnal oximetry.
| Study group | Role | What they receive |
|---|---|---|
| FSHD patients | Experimental | 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. Receives: Other: Diaphragmatic ultrasound; Other: Pulmonary function test |
What is being measured
The primary outcome is the main question the study is designed to answer.
One-year evaluation of the ultrasound diaphragmatic trophism
Diaphragmatic thickness (DT) after a normal expiration (basal-DT) and after a maximal inspiration (max-DT)
Measured: 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
Measured: 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
Measured: At enrollement and one year -follow-up
One-year evaluation of the ultrasound diaphragmatic excursion
Diaphragmatic excursion after a maximal inspiration
Measured: At enrollement and one year -follow-up
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Oct 2023
- Study start18 Jul 2023
- Primary completion30 Jul 2024
- Study completion30 Jul 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for FSHD1Studies of the same condition, open and under way.
- More trials run by Fondazione Policlinico Universitario Agostino Gemelli IRCCSThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 34 participants (estimated)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Ricci Enzo, Principal investigator, Fondazione Policlinico Gemelli IRCCS
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06078852
- Sponsor's protocol ID
- 5778
- Status last verified
- Nov 2024
- First submitted
- 10 Jul 2023
- Last updated
- 8 Sep 2025
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 8 Sep 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Longitudinal Interventional Study on Diaphragmatic Ultrasound in Facioscapulohumeral Dystrophy (FSHD) Patients
- ClinicalTrials.gov ID
- NCT06078852
- Acronym / sponsor ID
- 5778
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 34 participants (estimated)
- Lead sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCSUniversity, hospital or other
- Study start
- 18 Jul 2023 (actual)
- Primary completion
- 30 Jul 2024 (actual)
- Study completion
- 30 Jul 2026 (estimated)
- First posted
- 12 Oct 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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:
- How does respiratory function assessed by diaphragmatic ultrasound and pulmonary function tests change over 12 months in FSHD patients?
- How accurate is diaphragmatic ultrasound in detecting respiratory abnormalities in these patients compared to pulmonary function tests?
- 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.
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 design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| FSHD patients | Experimental | Other: Diaphragmatic ultrasound, Other: Pulmonary function testPatients 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. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (3 listed)
- Diagnosis of FSHD, genetically confirmed.
- Adult patients (18 years or older)
- Signature from the patient on the written informed consent document
Key exclusion criteria (1 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Diaphragmatic ultrasoundUltrasound evaluation of diaphragm thickness, contractility, and excursion in semi-supine and sitting positions. | Other | FSHD patients |
| Pulmonary function testRoutine spirometry, body plethysmography (FRC, TLC), maximal inspiratory/expiratory pressures (MIP, MEP), and nocturnal oximetry. | Other | FSHD patients |
Primary outcome
One-year evaluation of the ultrasound diaphragmatic trophism
Time frame: 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
Time frame: 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)
Time frame: 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
Time frame: At enrollement and one year -follow-up
Diaphragmatic excursion after a maximal inspiration
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 8 Sep 2025.
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Phase 2 Open-label Extension Study of AOC 1020 in Participants With Facioscapulohumeral Muscular Dystrophy (FSHD)
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Study to Evaluate the Efficacy and Safety of Satralizumab in FSHD1
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Eleonora Torchia contact
Ricci Enzo principal investigator
Fondazione Policlinico Gemelli IRCCS
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Diaphragmatic ultrasound and Pulmonary function test in people with FSHD1 and FSHD2, run by Fondazione Policlinico Universitario Agostino Gemelli IRCCS at 1 site in Italy.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 8 Sep 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Enzo Ricci (+390630157088, enzo.ricci@policlinicogemelli.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
One-year evaluation of the ultrasound diaphragmatic trophism (time frame: At enrollement and one year -follow-up). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 8 Sep 2025.