Actively Recruiting
Longitudinal Study on Diaframmatic Ultrasound in FSHD Patients
Led by Fondazione Policlinico Universitario Agostino Gemelli IRCCS · Updated on 2025-09-08
34
Participants Needed
1
Research Sites
158 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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
Official Title
Longitudinal Study on Diaframmatic Ultrasound in FSHD Patients
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Diagnosis of FSHD, genetically confirmed
- Adult patients 18 years or older
- Signed written informed consent
You will not qualify if you...
- History of neck or mediastinal 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
Trial Site Locations
Total: 1 location
1
Fondazione Policlinico Gemelli IRCCS
Roma, Italy, 00168
Actively Recruiting
Research Team
E
Enzo Ricci
CONTACT
E
Eleonora Torchia
CONTACT
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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