Status:
RECRUITING
Longitudinal Study on Diaframmatic Ultrasound in FSHD Patients
Lead Sponsor:
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Conditions:
FSHD1
FSHD2
Eligibility:
All Genders
18+ years
Phase:
NA
Brief 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 ...
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 wea...
Eligibility Criteria
Inclusion
- Diagnosis of FSHD, genetically confirmed.
- Adult patients (18 years or older)
- Signature from the patient on the written informed consent document
Exclusion
- \- 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.
Key Trial Info
Start Date :
July 18 2023
Trial Type :
INTERVENTIONAL
Allocation :
ESTIMATED
End Date :
July 30 2026
Estimated Enrollment :
34 Patients enrolled
Trial Details
Trial ID
NCT06078852
Start Date
July 18 2023
End Date
July 30 2026
Last Update
September 8 2025
Active Locations (1)
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1
Fondazione Policlinico Gemelli IRCCS
Roma, Italy, 00168