New Biomarkers in Facioscapulohumeral Muscular Dystrophy, Multispectral Optoacoustic Tomography.

Study Overview
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Brief Summary
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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.

Official Title
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New Biomarkers in Facioscapulohumeral Muscular Dystrophy, Multispectral Optoacoustic Tomography.

Conditions
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FSHD

Intervention / Treatment
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* Device: MSOT Acuity Echo


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: molecular diagnosis of FSHD recent pelvic and lower-limb muscle MRI 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

Ages Eligible for Study
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Minimum Age: 18 Years
Maximum Age: 65 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Other
Allocation: Non-Randomized
Intervention Model: Parallel Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Other: Patients<br>Patients with FSHD | Device: MSOT Acuity Echo<br>* Imaging of muscles applying Multi-spectral optoacoustic tomography (MSOT)<br>|
| Other: Controls<br>Healthy volunteers | Device: MSOT Acuity Echo<br>* Imaging of muscles applying Multi-spectral optoacoustic tomography (MSOT)<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Optoacoustic Absorption Spectrum (peaks at different wavelengths in arbitrary units) in FSHD muscles | 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. | 6 months | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Medical Research Council (MRC) Muscle Strength Grades | Correlation of spectra detected by MSOT with clinical scores | 6 months | 
| Disease severity (Clinical Severity Scale CSS) | 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). | 6 months | 
| Phenotyping (FSHD Comprehensive Clinical Evaluation Form CCEF) | Correlation of spectra detected by MSOT with the phenotype classification derived applying the FSHD Comprehensive Clinical Evaluation Form CCEF (4 categories) | 6 months | 
| Dynamometer test of muscle strength | Correlation of spectra detected by MSOT with muscle strength (in N) assessed using a hand held dynamometer | 6 months | 
| Magnetic resonance imaging | 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) | 6 months | 
| Intraclass correlation coefficient | Evaluation of intra and inter-observer agreement in the estimate of Optoacoustic Absorption Spectra using Intraclass correlation coefficient (ICC) of the repeated measurements | 6 months |