Assessing respiratory function in FSHD patients using diaphragmatic ultrasound

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This longitudinal study aims to evaluate respiratory function in patients with Facioscapulohumeral Muscular Dystrophy (FSHD) over a one-year period. It will utilize diaphragmatic ultrasound alongside pulmonary function tests to assess changes in respiratory function and the accuracy of ultrasound in detecting abnormalities. A cohort of 34 genetically confirmed FSHD patients will undergo various assessments, including neurological examinations and pulmonary function tests, at baseline and after 12 months. The study seeks to establish correlations between ultrasound findings and clinical data.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* Diagnosis of FSHD, genetically confirmed.
* Adult patients (18 years or older)
* Signature from the patient on the written informed consent document

Exclusion Criteria:

\- 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's running

• Fondazione Policlinico Gemelli IRCCS
  Roma, Italy Recruiting

Study contacts

• Principal investigator: Ricci Enzo — Fondazione Policlinico Gemelli IRCCS
• Study coordinator: Enzo Ricci
• Email: enzo.ricci@policlinicogemelli.it
• Phone: +390630157088

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.