FSHD
Conditions
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.
Interventions
DEVICEMSOT Acuity Echo
Imaging of muscles applying Multi-spectral optoacoustic tomography (MSOT)
Sponsors
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Study design
Allocation
NON_RANDOMIZED
Intervention model
PARALLEL
Primary purpose
OTHER
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
18 Years to 65 Years
Healthy volunteers
Yes
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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
| Measure | Time frame | Description |
|---|---|---|
| Medical Research Council (MRC) Muscle Strength Grades | 6 months | Correlation of spectra detected by MSOT with clinical scores |
| 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). |
| 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 |
| Dynamometer test of muscle strength | 6 months | Correlation of spectra detected by MSOT with muscle strength (in N) assessed using a hand held dynamometer |
| 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) |
| 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) |
Countries
Italy
Contacts
Primary ContactMauro Monforte
Outcome results
None listed