Ignite Creation Date:
2024-05-06 @ 7:37 PM
Last Modification Date:
2024-10-26 @ 3:10 PM
Study NCT ID:
NCT06078852
Status:
RECRUITING
Last Update Posted:
2023-10-12
First Post:
2023-07-10
Brief Title:
Longitudinal Study on Diaframmatic Ultrasound in FSHD Patients
Sponsor:
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Organization:
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Study Overview
Official Title:
Longitudinal Interventional Study on Diaphragmatic Ultrasound in Facioscapulohumeral Dystrophy FSHD Patients
Status:
RECRUITING
Status Verified Date:
2023-06
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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
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
Detailed Description:
Respiratory disorders are reported to be present in 38-48 of patients with Facioscapulohumeral Muscular Dystrophy FSHD and are caused mainly by the weakness of the diaphragm muscle abdominal muscles and possible chest deformities Pulmonary assessment is an integral part of managing these patients however spirometric parameters may underestimate mild inspiratory abnormalities Diaphragmatic ultrasound is a promising technique used to evaluate diaphragm trophism and kinetics only one study has assessed respiratory function using diaphragmatic ultrasound in a small cohort of FSHD patients demonstrating a significant reduction in some ultrasound parameters Currently no data are available in the literature regarding the long-term follow-up use of diaphragmatic ultrasound in FSHD patients
The primary objective of this prospective single-center longitudinal study is to assess respiratory function indices derived from diaphragmatic ultrasound in FSHD patients at baseline and after one year
The secondary objectives are as follows
Describe the differences in respiratory function parameters of a cohort of FSHD patients using both diaphragmatic ultrasound and pulmonary function tests at baseline and after 12 months
Evaluate the diagnostic accuracy of ultrasound parameters in detecting respiratory abnormalities
Assess the relationship between ultrasound and functional pulmonary test parameters at baseline and after 12 months and the relationship between these indices and clinical demographic and genetic data
We will recruit 34 patients with genetically confirmed FSHD who are regularly monitored at the Neurology and Pneumology Unit of Fondazione Policlinico Universitario Agostino Gemelli IRCCS as part of their routine follow-up for this condition
Inclusion criteria are as follows
Age 18 years or older
Genetically confirmed diagnosis of FSHD
Signed written informed consent to participate in the study
Exclusion criteria are
Age under 18 years
History of trauma andor surgical interventions andor radiotherapy in the neck and mediastinum eg total thyroidectomy mastectomy with evidence of phrenic nerve injury
Refusal to sign the written informed consent to participate in the study
All patients will undergo the following examinations at baseline T0 and at 12 months 3 months T1
Neurological examination as per routine clinical practice Demographic and clinical data will be collected including age gender BMI EcoRI fragment length disease duration Clinical Severity Score CSS FSHD Comprehensive Clinical Evaluation Form CCEF Medical Research Council Score for manual muscle testing MRC scoliosis or other spine deformities
Pneumology examination as per routine clinical practice including medical history and pulmonary assessment presence of pulmonary comorbidities or other conditions that may affect respiratory function eg smoking COPD etc
Diaphragmatic ultrasound using the MyLab TM 50 Gold Cardiovascular ultrasound machine Esaote Spa Rome Italy in both semi-supine where possible and sitting positions Bilateral diaphragm thickness DT and diaphragm kinetics change in diaphragm thickness will be evaluated Diaphragmatic excursion amplitude will also be calculated to assess cranio-caudal diaphragm movements
Body plethysmography as per routine clinical practice including FRC functional residual capacity static volume of air remaining in the lungs after a normal expiration and TLC total lung capacity static volume of air in the lungs at the end of maximal inspiration
Measurement of Maximal Inspiratory Pressure MIP and Maximal Expiratory Pressure MEP as per routine clinical practice
Nocturnal oximetry as per routine clinical practice
The primary objective of this prospective single-center longitudinal study is to assess respiratory function indices derived from diaphragmatic ultrasound in FSHD patients at baseline and after one year
The secondary objectives are as follows
Describe the differences in respiratory function parameters of a cohort of FSHD patients using both diaphragmatic ultrasound and pulmonary function tests at baseline and after 12 months
Evaluate the diagnostic accuracy of ultrasound parameters in detecting respiratory abnormalities
Assess the relationship between ultrasound and functional pulmonary test parameters at baseline and after 12 months and the relationship between these indices and clinical demographic and genetic data
We will recruit 34 patients with genetically confirmed FSHD who are regularly monitored at the Neurology and Pneumology Unit of Fondazione Policlinico Universitario Agostino Gemelli IRCCS as part of their routine follow-up for this condition
Inclusion criteria are as follows
Age 18 years or older
Genetically confirmed diagnosis of FSHD
Signed written informed consent to participate in the study
Exclusion criteria are
Age under 18 years
History of trauma andor surgical interventions andor radiotherapy in the neck and mediastinum eg total thyroidectomy mastectomy with evidence of phrenic nerve injury
Refusal to sign the written informed consent to participate in the study
All patients will undergo the following examinations at baseline T0 and at 12 months 3 months T1
Neurological examination as per routine clinical practice Demographic and clinical data will be collected including age gender BMI EcoRI fragment length disease duration Clinical Severity Score CSS FSHD Comprehensive Clinical Evaluation Form CCEF Medical Research Council Score for manual muscle testing MRC scoliosis or other spine deformities
Pneumology examination as per routine clinical practice including medical history and pulmonary assessment presence of pulmonary comorbidities or other conditions that may affect respiratory function eg smoking COPD etc
Diaphragmatic ultrasound using the MyLab TM 50 Gold Cardiovascular ultrasound machine Esaote Spa Rome Italy in both semi-supine where possible and sitting positions Bilateral diaphragm thickness DT and diaphragm kinetics change in diaphragm thickness will be evaluated Diaphragmatic excursion amplitude will also be calculated to assess cranio-caudal diaphragm movements
Body plethysmography as per routine clinical practice including FRC functional residual capacity static volume of air remaining in the lungs after a normal expiration and TLC total lung capacity static volume of air in the lungs at the end of maximal inspiration
Measurement of Maximal Inspiratory Pressure MIP and Maximal Expiratory Pressure MEP as per routine clinical practice
Nocturnal oximetry as per routine clinical practice
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None