New Biomarkers in Facioscapulohumeral Muscular Dystrophy, Multispectral Optoacoustic Tomography.

Not Applicable

Recruiting

• Conditions: FSHD
• Interventions: Device: MSOT Acuity Echo

• Registration Number: NCT05902884
• Lead Sponsor: Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Brief Summary

Facioscapulohumeral Muscular Dystrophy (FSHD) is one of the most frequent muscular dystrophies in the adulthood. Multi-spectral optoacoustic tomography (MSOT) is an innovative imaging technique able to non-invasively characterize the molecular composition of the muscle tissue. With this pilot study we will explore the performance of MSOT imaging in FSHD patients and correlate the findings with clinical and MRI data, with the final aim to identify new disease biomarkers.

Detailed Description

Not available

Basic Information
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Recruitment & Eligibility
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Study & Design
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Trial Locations

Study Timeline

• Status Verified: 2023-04
• Study First Submitted: 2023-04-27
• Study First Submitted QC: 2023-06-05
• Study First Posted: 2023-06-15
• Study Start: 2023-06-26
• Last Update Submitted: 2023-07-05
• Last Update Posted: 2023-07-06
• Primary Completion: 2023-09-30
• Study Completion: 2023-12-30

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 20

Inclusion Criteria

• molecular diagnosis of FSHD
• recent pelvic and lower-limb muscle MRI

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Exclusion Criteria

• presence of conditions that can alter the signal of the muscles under investigation: eg. tattoos, scars or skin abrasions at the site of probe evaluation, recent trauma, decompensated diabetes, symptomatic radiculopathies, acute or chronic inflammatory diseases
• current or presumed pregnancy
• inability to give informed consent

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Study & Design

• Study Type: INTERVENTIONAL
• Study Design: PARALLEL

Arm && Interventions

Group	Intervention	Description
Patients	MSOT Acuity Echo	Patients with FSHD
Controls	MSOT Acuity Echo	Healthy volunteers

Primary Outcome Measures

Name	Time	Method
Optoacoustic Absorption Spectrum (peaks at different wavelengths in arbitrary units) in FSHD muscles	6 months	Definition of the Optoacoustic Absorption Spectrum (glycogen, lipid, collagen, hemo/myoglobin peaks at different wavelengths in arbitrary units) of muscles of FSHD patients and evaluation of the differences compared to healthy volunteers.

Secondary Outcome Measures

Name	Time	Method
Disease severity (Clinical Severity Scale CSS)	6 months	Correlation of spectra detected by MSOT with Clinical Severity Scale(CSS), a global index of disease severity specific for FSHD (from 0 to 5 points).
Phenotyping (FSHD Comprehensive Clinical Evaluation Form CCEF)	6 months	Correlation of spectra detected by MSOT with the phenotype classification derived applying the FSHD Comprehensive Clinical Evaluation Form CCEF (4 categories)
Medical Research Council (MRC) Muscle Strength Grades	6 months	Correlation of spectra detected by MSOT with clinical scores
Magnetic resonance imaging	6 months	Correlation of spectra detected by MSOT with magnetic resonance imaging parameters (presence of fatty replacement in T1-weighted sequences, presence of increased signal in short-tau inversion recovery sequences)
Dynamometer test of muscle strength	6 months	Correlation of spectra detected by MSOT with muscle strength (in N) assessed using a hand held dynamometer
Intraclass correlation coefficient	6 months	Evaluation of intra and inter-observer agreement in the estimate of Optoacoustic Absorption Spectra using Intraclass correlation coefficient (ICC) of the repeated measurements

Trial Locations

Locations (1)

Fondazione Policlinico Gemelli IRCCS; 🇮🇹 Rome, Italy