Assessing respiratory function in FSHD patients using diaphragmatic ultrasound
Longitudinal Interventional Study on Diaphragmatic Ultrasound in Facioscapulohumeral Dystrophy (FSHD) Patients
This study is testing how well diaphragmatic ultrasound can track changes in breathing function over a year in people with Facioscapulohumeral Muscular Dystrophy (FSHD).
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 34 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | Fondazione Policlinico Universitario Agostino Gemelli IRCCS Academic / other |
| Drugs / interventions | radiation |
| Locations | 1 site (Roma) |
| Trial ID | NCT06078852 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates for this study are adult patients aged 18 and older with a genetically confirmed diagnosis of FSHD.
Not a fit: Patients with a history of neck and mediastinal trauma or surgery that may have caused phrenic nerve injury are unlikely to benefit from this study.
Why it matters
Potential benefit: If successful, this study could improve the assessment and management of respiratory function in FSHD patients, leading to better patient outcomes.
How similar studies have performed: While there has been limited research on the use of diaphragmatic ultrasound in FSHD patients, this study represents a novel approach to long-term respiratory assessment in this population.
Eligibility criteria
Show full inclusion / exclusion criteria
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 this trial is running
Roma
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.