Actively Recruiting
Longitudinal Interventional Study on Diaphragmatic Ultrasound in Facioscapulohumeral Muscular Dystrophy
Led by Fondazione Policlinico Universitario Agostino Gemelli IRCCS · Updated on 2025-09-08
34
Participants Needed
1
Research Sites
104 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are investigating respiratory function in adults with facioscapulohumeral muscular dystrophy (FSHD), a condition that affects muscles including those used for breathing. This study aims to understand how respiratory function changes over one year using diaphragmatic ultrasound and pulmonary function tests. It will also compare the accuracy of ultrasound in detecting breathing problems and explore how these measurements relate to clinical and genetic data in FSHD patients. Participants with genetically confirmed FSHD will undergo assessments including diaphragmatic ultrasound to measure diaphragm thickness, contractility, and movement in different positions. Pulmonary function tests like spirometry, body plethysmography, maximal inspiratory and expiratory pressures, and overnight oxygen monitoring will be done at the start and after 12 months. This longitudinal study seeks to provide new insights into respiratory changes in FSHD. During the study, each participant will have a detailed neurological exam as well as breathing tests at baseline and one year later. Researchers will track changes in diaphragm structure and function through ultrasound and compare these with standard lung function results. The study aims to establish ultrasound as a useful tool for monitoring respiratory health in FSHD, potentially aiding early detection of breathing difficulties and guiding clinical care. Total participation lasts one year from initial to follow-up assessment.
CONDITIONS
Brief Title
Longitudinal Study on Diaframmatic Ultrasound in FSHD Patients
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Diagnosis of facioscapulohumeral muscular dystrophy confirmed by genetic testing
- Adult patients aged 18 years or older
- Ability to provide written informed consent
You will not qualify if you...
- History of neck or chest trauma, surgery, or radiation therapy with evidence of phrenic nerve injury
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - 1 day
Participants undergo diaphragmatic ultrasound and standard pulmonary function tests to assess respiratory involvement in FSHD at baseline.
1 baseline visit (in-person)
Duration - 12 months
Participants are reassessed with diaphragmatic ultrasound and pulmonary function tests after one year to monitor respiratory function progression.
1 follow-up visit (in-person) after 12 months
Trial Site Locations
Total: 1 location
1
Fondazione Policlinico Gemelli IRCCS
Roma, Italy, 00168
Actively Recruiting
Research Team
E
Enzo Ricci
E
Eleonora Torchia
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
DIAGNOSTIC
Number of Arms
1
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