New Biomarkers in Facioscapulohumeral Muscular Dystrophy, Multispectral Optoacoustic Tomography. (MSOT-FSHD)

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 Overview

• Status: Recruiting
• Conditions: FSHD
• Intervention / Treatment: Device: MSOT Acuity Echo

• Study Type: Interventional
• Enrollment (Estimated): 20
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Mauro Monforte; Phone Number: +390630154155; Email: mauro.monforte@policlinicogemelli.it

Study Locations

• Italy
  • Rome, Italy
    • Recruiting
    • Fondazione Policlinico Gemelli IRCCS
    • Contact: Mauro Monforte

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: Yes

Description

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

Study Plan

How is the study designed?

Design Details

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

Number of Arms

2

Arms and Interventions

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

What is the study measuring?

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

Collaborators and Investigators

• Sponsor: Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Study record dates

Study Major Dates

• Study Start (Actual): June 26, 2023
• Primary Completion (Estimated): September 30, 2023
• Study Completion (Estimated): December 30, 2023

Study Registration Dates

• First Submitted: April 27, 2023
• First Submitted That Met QC Criteria: June 5, 2023
• First Posted (Actual): June 15, 2023

Study Record Updates

• Last Update Posted (Actual): July 6, 2023
• Last Update Submitted That Met QC Criteria: July 5, 2023
• Last Verified: April 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Nervous System Diseases; Genetic Diseases, Inborn; Musculoskeletal Diseases; Muscular Diseases; Neuromuscular Diseases; Muscular Disorders, Atrophic; Muscular Dystrophies; Muscular Dystrophy, Facioscapulohumeral
• Other Study ID Numbers: 5374

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No