New Biomarkers in Facioscapulohumeral Muscular Dystrophy, Multispectral Optoacoustic Tomography.

Fondazione Policlinico Universitario Agostino Gemelli IRCCS20 enrolled

Overview

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.

Study Type

INTERVENTIONAL

Allocation

NON_RANDOMIZED

Purpose

OTHER

Masking

NONE

Enrollment

Conditions

FSHD

Interventions

MSOT Acuity EchoDEVICE

Imaging of muscles applying Multi-spectral optoacoustic tomography (MSOT)

Eligibility

Sex: ALLMin age: 18 YearsMax age: 65 YearsHealthy volunteers:

Medical Language ↔ Plain English

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

Locations (1)

Fondazione Policlinico Gemelli IRCCS

Rome, Italy

RECRUITING

Outcomes

Primary Outcomes

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.

Time frame: 6 months

Secondary Outcomes

Medical Research Council (MRC) Muscle Strength Grades

Correlation of spectra detected by MSOT with clinical scores

Time frame: 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).

Time frame: 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)

Time frame: 6 months

Dynamometer test of muscle strength

Correlation of spectra detected by MSOT with muscle strength (in N) assessed using a hand held dynamometer

Time frame: 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)

Time frame: 6 months

Intraclass correlation coefficient

Central Contacts

Mauro Monforte

CONTACT

+390630154155 mauro.monforte@policlinicogemelli.it

Data from ClinicalTrials.gov

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