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

Primary Purpose

FSHD

Status
Recruiting
Phase
Not Applicable
Locations
Italy
Study Type
Interventional
Intervention
MSOT Acuity Echo
Sponsored by
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional other trial for FSHD

Eligibility Criteria

18 Years - 65 Years (Adult, Older Adult)All SexesAccepts Healthy Volunteers

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

Sites / Locations

  • Fondazione Policlinico Gemelli IRCCSRecruiting

Arms of the Study

Arm 1

Arm 2

Arm Type

Other

Other

Arm Label

Patients

Controls

Arm Description

Patients with FSHD

Healthy volunteers

Outcomes

Primary Outcome Measures

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.

Secondary Outcome Measures

Medical Research Council (MRC) Muscle Strength Grades
Correlation of spectra detected by MSOT with clinical scores
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).
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)
Dynamometer test of muscle strength
Correlation of spectra detected by MSOT with muscle strength (in N) assessed using a hand held dynamometer
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)
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

Full Information

First Posted
April 27, 2023
Last Updated
July 5, 2023
Sponsor
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
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1. Study Identification

Unique Protocol Identification Number
NCT05902884
Brief Title
New Biomarkers in Facioscapulohumeral Muscular Dystrophy, Multispectral Optoacoustic Tomography.
Acronym
MSOT-FSHD
Official Title
New Biomarkers in Facioscapulohumeral Muscular Dystrophy, Multispectral Optoacoustic Tomography.
Study Type
Interventional

2. Study Status

Record Verification Date
April 2023
Overall Recruitment Status
Recruiting
Study Start Date
June 26, 2023 (Actual)
Primary Completion Date
September 30, 2023 (Anticipated)
Study Completion Date
December 30, 2023 (Anticipated)

3. Sponsor/Collaborators

Responsible Party, by Official Title
Sponsor
Name of the Sponsor
Fondazione Policlinico Universitario Agostino Gemelli IRCCS

4. Oversight

Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No

5. Study Description

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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
FSHD

7. Study Design

Primary Purpose
Other
Study Phase
Not Applicable
Interventional Study Model
Parallel Assignment
Masking
None (Open Label)
Allocation
Non-Randomized
Enrollment
20 (Anticipated)

8. Arms, Groups, and Interventions

Arm Title
Patients
Arm Type
Other
Arm Description
Patients with FSHD
Arm Title
Controls
Arm Type
Other
Arm Description
Healthy volunteers
Intervention Type
Device
Intervention Name(s)
MSOT Acuity Echo
Intervention Description
Imaging of muscles applying Multi-spectral optoacoustic tomography (MSOT)
Primary Outcome Measure Information:
Title
Optoacoustic Absorption Spectrum (peaks at different wavelengths in arbitrary units) in FSHD muscles
Description
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 Outcome Measure Information:
Title
Medical Research Council (MRC) Muscle Strength Grades
Description
Correlation of spectra detected by MSOT with clinical scores
Time Frame
6 months
Title
Disease severity (Clinical Severity Scale CSS)
Description
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
Title
Phenotyping (FSHD Comprehensive Clinical Evaluation Form CCEF)
Description
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
Title
Dynamometer test of muscle strength
Description
Correlation of spectra detected by MSOT with muscle strength (in N) assessed using a hand held dynamometer
Time Frame
6 months
Title
Magnetic resonance imaging
Description
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
Title
Intraclass correlation coefficient
Description
Evaluation of intra and inter-observer agreement in the estimate of Optoacoustic Absorption Spectra using Intraclass correlation coefficient (ICC) of the repeated measurements
Time Frame
6 months

10. Eligibility

Sex
All
Minimum Age & Unit of Time
18 Years
Maximum Age & Unit of Time
65 Years
Accepts Healthy Volunteers
Accepts Healthy Volunteers
Eligibility Criteria
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
Central Contact Person:
First Name & Middle Initial & Last Name or Official Title & Degree
Mauro Monforte
Phone
+390630154155
Email
mauro.monforte@policlinicogemelli.it
Facility Information:
Facility Name
Fondazione Policlinico Gemelli IRCCS
City
Rome
Country
Italy
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Mauro Monforte

12. IPD Sharing Statement

Learn more about this trial

New Biomarkers in Facioscapulohumeral Muscular Dystrophy, Multispectral Optoacoustic Tomography.

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