NCT06078852

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. 1.How does respiratory function assessed by diaphragmatic ultrasound and pulmonary function tests change over 12 months in FSHD patients?
  2. 2.How accurate is diaphragmatic ultrasound in detecting respiratory abnormalities in these patients compared to pulmonary function tests?
  3. 3.What is the relationship between ultrasound and functional indices, and how do these indices correlate with demographic, clinical, and genetic data?

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
34

participants targeted

Target at P25-P50 for not_applicable

Timeline
3mo left

Started Jul 2023

Typical duration for not_applicable

Geographic Reach
1 country

1 active site

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

Study Progress92%
Jul 2023Jul 2026

First Submitted

Initial submission to the registry

July 10, 2023

Completed
8 days until next milestone

Study Start

First participant enrolled

July 18, 2023

Completed
3 months until next milestone

First Posted

Study publicly available on registry

October 12, 2023

Completed
10 months until next milestone

Primary Completion

Last participant's last visit for primary outcome

July 30, 2024

Completed
2 years until next milestone

Study Completion

Last participant's last visit for all outcomes

July 30, 2026

Expected
Last Updated

September 8, 2025

Status Verified

November 1, 2024

Enrollment Period

1 year

First QC Date

July 10, 2023

Last Update Submit

September 2, 2025

Conditions

FSHD1FSHD2

Outcome Measures

Primary Outcomes (4)

  • One-year evaluation of the ultrasound diaphragmatic trophism

    Diaphragmatic thickness (DT) after a normal expiration (basal-DT) and after a maximal inspiration (max-DT)

    At enrollement and one year -follow-up

  • One-year evaluation of the ultrasound diaphragmatic contractility

    Diaphragmatic thickening after a maximal inspiration determined as the difference between max-DT and basal-DT

    At enrollement and one year -follow-up

  • One-year evaluation of the ultrasound diaphragmatic contractility (as ratio)

    Diaphragmatic thickening after a maximal inspiration determined as the ratio of difference between max-DT and basal-DT to basal-DT

    At enrollement and one year -follow-up

  • One-year evaluation of the ultrasound diaphragmatic excursion

    Diaphragmatic excursion after a maximal inspiration

    At enrollement and one year -follow-up

Study Arms (1)

FSHD patients

EXPERIMENTAL

Patients with genetically confirmed FSHD undergoing routine neurological and pneumological follow-up, who will be assessed with diaphragmatic ultrasound and standard pulmonary function tests at baseline and at 12 months.

Other: Diaphragmatic ultrasoundOther: Pulmonary function test

Interventions

Diaphragmatic ultrasoundOTHER

Ultrasound evaluation of diaphragm thickness, contractility, and excursion in semi-supine and sitting positions.

FSHD patients
Pulmonary function testOTHER

Routine spirometry, body plethysmography (FRC, TLC), maximal inspiratory/expiratory pressures (MIP, MEP), and nocturnal oximetry.

FSHD patients

Eligibility Criteria

Age18 Years+
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)

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.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Fondazione Policlinico Gemelli IRCCS

Roma, 00168, Italy

RECRUITING

MeSH Terms

Interventions

Respiratory Physiological Phenomena

Intervention Hierarchy (Ancestors)

Circulatory and Respiratory Physiological Phenomena

Study Officials

  • Ricci Enzo

    Fondazione Policlinico Gemelli IRCCS

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Enzo Ricci

CONTACT

+390630157088enzo.ricci@policlinicogemelli.it

Eleonora Torchia

CONTACT

eleonora.torchia@unicatt.it

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NA
Masking
NONE
Purpose
DIAGNOSTIC
Intervention Model
SINGLE GROUP
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

July 10, 2023

First Posted

October 12, 2023

Study Start

July 18, 2023

Primary Completion

July 30, 2024

Study Completion (Estimated)

July 30, 2026

Last Updated

September 8, 2025

Record last verified: 2024-11

Locations

IT(1)