NCT06078852 Longitudinal Study on Diaframmatic Ultrasound in FSHD Patients
| NCT ID | NCT06078852 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Fondazione Policlinico Universitario Agostino Gemelli IRCCS |
| Condition | FSHD1 |
| Study Type | INTERVENTIONAL |
| Enrollment | 34 participants |
| Start Date | 2023-07-18 |
| Primary Completion | 2024-07-30 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
You will actively receive the study intervention — which may be a drug, biologic, device, or procedure.
This trial targets 34 participants in total. It began in 2023-07-18 with a primary completion date of 2024-07-30.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
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 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.
Eligibility 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.
Contact & Investigator
Ricci Enzo
PRINCIPAL INVESTIGATOR
Fondazione Policlinico Gemelli IRCCS
Frequently Asked Questions
Who can join the NCT06078852 clinical trial?
This trial is open to participants of all sexes, aged 18 Years or older, studying FSHD1. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT06078852 currently recruiting?
Yes, NCT06078852 is actively recruiting participants. Contact the research team at enzo.ricci@policlinicogemelli.it for enrollment information.
Where is the NCT06078852 trial being conducted?
This trial is being conducted at Roma, Italy.
Who is sponsoring the NCT06078852 clinical trial?
NCT06078852 is sponsored by Fondazione Policlinico Universitario Agostino Gemelli IRCCS. The principal investigator is Ricci Enzo at Fondazione Policlinico Gemelli IRCCS. The trial plans to enroll 34 participants.