Longitudinal Study on Diaframmatic Ultrasound in FSHD Patients
Recruiting now · Not applicable
Conditions studied: FSHD1, FSHD2
In brief
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.
Key facts
- Study ID
- NCT06078852
- Run by
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
- People needed
- 34
- Starts
- 2023-07-18
- Expected to finish
- 2026-07-30
- Last updated by the study team
- 2025-09-08
Who can join
Age: 18 and older. Sex: any. Healthy volunteers: not accepted.
You may qualify if…
- Diagnosis of FSHD, genetically confirmed.
- Adult patients (18 years or older)
- Signature from the patient on the written informed consent document
You may not qualify if…
- 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.
Where it is running
- Fondazione Policlinico Gemelli IRCCS — Roma, Italy (enrolling)
Full record on ClinicalTrials.gov
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