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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Patients | Other | Patients with FSHD |
|
| Controls | Other | Healthy volunteers |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| MSOT Acuity Echo | Device | Imaging of muscles applying Multi-spectral optoacoustic tomography (MSOT) |
|
| 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 |
| 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). |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Mauro Monforte | Contact | +390630154155 | mauro.monforte@policlinicogemelli.it |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Fondazione Policlinico Gemelli IRCCS | Recruiting | Rome | Italy |
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| 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 |