New Biomarkers in Facioscapulohumeral Muscular Dystrophy, Multispectral Optoacoustic Tomography.

FSHD Clinical Trial

— MSOT-FSHD  

Official title:

New Biomarkers in Facioscapulohumeral Muscular Dystrophy, Multispectral Optoacoustic Tomography.

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05902884
• Other study ID #: 5374
• Status: Recruiting
• Phase: N/A
• Start date: June 26, 2023
• Est. completion date: December 30, 2023

Study information

• Verified date: April 2023
• Source: Fondazione Policlinico Universitario Agostino Gemelli IRCCS
• Contact: Mauro Monforte
• Phone: +390630154155
• Email: mauro.monforte[@]policlinicogemelli.it
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 20
• Est. completion date: December 30, 2023
• Est. primary completion date: September 30, 2023
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 18 Years to 65 Years

Eligibility

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

Related Conditions & MeSH terms

• FSHD
• Muscular Dystrophies
• Muscular Dystrophy, Facioscapulohumeral

Intervention

Device:
• MSOT Acuity Echo
Imaging of muscles applying Multi-spectral optoacoustic tomography (MSOT)

Locations

Country	Name	City	State
Italy	Fondazione Policlinico Gemelli IRCCS	Rome

Sponsors (1)

Lead Sponsor	Collaborator
Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Country where clinical trial is conducted

Italy, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	Medical Research Council (MRC) Muscle Strength Grades	Correlation of spectra detected by MSOT with clinical scores	6 months
Secondary	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
Secondary	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
Secondary	Dynamometer test of muscle strength	Correlation of spectra detected by MSOT with muscle strength (in N) assessed using a hand held dynamometer	6 months
Secondary	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
Secondary	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