MSOT As Non-invasive Biomarker for Diagnosis and Monitoring of Neuromuscular Diseases

Multispectral Optoacoustic Imaging (MSOT) As Non-invasive Biomarker for Diagnosis and Monitoring of Neuromuscular Diseases (MSOT-NMD)

The goal of this study is to learn if Multispectral Optoacoustic Tomographs (MSOT) works to diagnose and follow the course of neuromuscular diseases (NMDs) in children. MSOT scans will be obtained from muscle region to measure hemo/myoglobin, collagen and lipid content/signal and oxygenation in patients with neuromuscular diseases. No additional research activities -other than MSOT - will be done during this study. Existing clinical, laboratory and imaging data from standard-of-care procedures will be correlated with the MSOT data. The expected total duration of the study is approximately 36 months. Repeated measurements will be done to evaluate disease progression and the value of MSOT in NMD.

Study Overview

• Status: Recruiting
• Conditions: Neuromuscular Diseases
• Intervention / Treatment: Device: Multispectral Optoacoustic Tomography (MSOT)

• Study Type: Observational
• Enrollment (Estimated): 240

Contacts and Locations

• Study Contact: Name: Hanns Lochmuller, Dr.; Phone Number: (613) 737-7600; Email: hlochmuller@toh.ca

Study Locations

• Canada
  • Ontario
    • Ottawa, Ontario, Canada, K1H 8L1
      • Recruiting
      • CHEO
      • Contact: Ozge Aksel Kilicarslan; Phone Number: 6051 613-737-7600; Email: oakselkilicarslan@cheo.on.ca
      • Contact: Tamara Burgess; Phone Number: 4017 613-737-7600; Email: tburgess@cheo.on.ca
      • Contact: Hugh McMillan, MD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Children with various neuromuscular diseases who are seen at the Children's Hospital of Eastern Ontario will be offered to participate in the study as part of their diagnostic work-up and at regular intervals during their ongoing care.

Description

Inclusion Criteria:

Patients with neuromuscular disease

• Children (from birth (infants that are born term) to 18 years of age) participants or consent through authorized guardian
• Confirmed or suspected diagnosis of a neuromuscular disease (through molecular genetics, biopsy, clinical examination)

Exclusion Criteria:

Participants:

• Diagnosis is not consistent with a confirmed or suspected neuromuscular disease
• Patients with active skin lesions (e.g. infections, trauma) or confirmed genetic disorders (e.g. epidermolysis bullosa) that predisposes to skin lesion
• Medically unstable patients
• Tattoo on skin overlying the area to be examined
• Missing consent form
• Exclusion due to safety concerns of the investigator (subject who has any condition, including any physical, psychological, or psychiatric condition, which in the opinion of the Investigator, would compromise the safety of the subject or the quality of the data and renders the subject an unsuitable candidate for the study)
• Medication leading to increased light sensitivity

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Patient with neuromuscular disease; Muscle regions of the patients with neuromuscular diseases will be imaged using the MSOT device. Repeated measurements will be done after 6-12 months.	Device: Multispectral Optoacoustic Tomography (MSOT); MSOT scans will be obtained from two muscle region to measure hemo/myoglobin, collagen and lipid content/signal and oxygenation in patient with neuromuscular diseases.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Comparison of the quantitative proportion of collagen, lipid, and hemo/myoglobin signal	Comparison of the quantitative proportion of collagen, lipid, and hemo/myoglobin signal determined by MSOT in muscle tissue of patients with different neuromuscular diseases with their clinical data.	Every 6-12 month, assessed up to 36 months. Some people might be in the study for a very short time, some might be in it for 36 months depending on the time they join the study

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Comparison of the quantitative amount of lipid and collagen signal	Comparison of the quantitative amount of lipid and collagen signal determined by MSOT in muscle tissue of children with different neuromuscular diseases.	Every 6-12 month, assessed up to 36 months. Some people might be in the study for a very short time, some might be in it for 36 months depending on the time they join the study
Comparison of the quantitative proportion of oxygenated/deoxygenated hemo/myoglobin signal	Comparison of the quantitative proportion of oxygenated/deoxygenated hemo/myoglobin signal in muscle tissue of children with different neuromuscular diseases.	Every 6-12 month, assessed up to 36 months. Some people might be in the study for a very short time, some might be in it for 36 months depending on the time they join the study
Comparison of the quantitative amount of oxygenated/deoxygenated hemo/myoglobin signal	Comparison of the quantitative amount of oxygenated/deoxygenated hemo/myoglobin signal determined by MSOT in muscle tissue of children with different neuromuscular diseases	Every 6-12 month, assessed up to 36 months. Some people might be in the study for a very short time, some might be in it for 36 months depending on the time they join the study
Comparison of the MSOT-determined quantitative amount of hemo/myoglobin, lipid, and collagen signal at different positions /muscle groups intraindividually	Comparison of the MSOT-determined quantitative amount of hemo/myoglobin, lipid, and collagen signal at different positions /muscle groups intraindividually in children with different neuromuscular diseases, to identify disease specific distribution patterns	Every 6-12 month, assessed up to 36 months. Some people might be in the study for a very short time, some might be in it for 36 months depending on the time they join the study
Comparison of the quantitative proportion of oxygenated/deoxygenated hemo/myoglobin, lipid, and collagen signal determined by MSOT at different positions /muscle groups intraindividually	Comparison of the quantitative proportion of oxygenated/deoxygenated hemo/myoglobin, lipid, and collagen signal determined by MSOT at different positions /muscle groups intraindividually in children with different neuromuscular diseases, to identify disease specific distribution patterns	Every 6-12 month, assessed up to 36 months. Some people might be in the study for a very short time, some might be in it for 36 months depending on the time they join the study
Correlation of the collagen signal	Correlation of the collagen signal determined with MSOT with clinical assessments performed on a routine level during visits.	Every 6-12 month, assessed up to 36 months. Some people might be in the study for a very short time, some might be in it for 36 months depending on the time they join the study
Correlation of the oxygenated/deoxygenated hemo/myoglobin signal determined with MSOT clinical assessments	Correlation of the oxygenated/deoxygenated hemo/myoglobin signal determined with MSOT clinical assessments performed on a routine level during visits.	Every 6-12 month, assessed up to 36 months. Some people might be in the study for a very short time, some might be in it for 36 months depending on the time they join the study
Correlation of the collagen signal determined with MSOT with routine laboratory tests	Correlation of the collagen signal determined with MSOT with routine laboratory tests such as blood creatine kinase (CK) levels, transaminases.	Every 6-12 month, assessed up to 36 months. Some people might be in the study for a very short time, some might be in it for 36 months depending on the time they join the study
Correlation of the oxygenated/deoxygenated hemo/myoglobin signal determined by MSOT with routine laboratory tests	Correlation of the oxygenated/deoxygenated hemo/myoglobin signal determined by MSOT with routine laboratory tests such as blood CK levels, transaminases.	Every 6-12 month, assessed up to 36 months. Some people might be in the study for a very short time, some might be in it for 36 months depending on the time they join the study
Correlation of the collagen signal determined with MSOT with patient reported outcome measures.	Correlation of the collagen signal determined with MSOT with patient reported outcome measures.	Every 6-12 month, assessed up to 36 months. Some people might be in the study for a very short time, some might be in it for 36 months depending on the time they join the study
Correlation of the oxygenated/deoxygenated hemo/myoglobin signal determined by MSOT with patient reported outcome measures.	Correlation of the oxygenated/deoxygenated hemo/myoglobin signal determined by MSOT with patient reported outcome measures.	Every 6-12 month, assessed up to 36 months. Some people might be in the study for a very short time, some might be in it for 36 months depending on the time they join the study
Correlation of the collagen signal determined with MSOT with the current treatment regimen	Correlation of the collagen signal determined with MSOT with the current treatment regimen in patients with NMD.	Every 6-12 month, assessed up to 36 months. Some people might be in the study for a very short time, some might be in it for 36 months depending on the time they join the study
Correlation of the oxygenated/deoxygenated hemo/myoglobin signal determined by MSOT with the current treatment regimen	Correlation of the oxygenated/deoxygenated hemo/myoglobin signal determined by MSOT with the current treatment regimen in patients with NMD.	Every 6-12 month, assessed up to 36 months. Some people might be in the study for a very short time, some might be in it for 36 months depending on the time they join the study

Collaborators and Investigators

• Sponsor: Children's Hospital of Eastern Ontario

Study record dates

Study Major Dates

• Study Start (Actual): February 7, 2025
• Primary Completion (Estimated): July 1, 2027
• Study Completion (Estimated): July 1, 2028

Study Registration Dates

• First Submitted: May 10, 2024
• First Submitted That Met QC Criteria: May 27, 2024
• First Posted (Actual): June 3, 2024

Study Record Updates

• Last Update Posted (Actual): March 25, 2025
• Last Update Submitted That Met QC Criteria: February 10, 2025
• Last Verified: February 1, 2025

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Nervous System Diseases; Neuromuscular Diseases
• Other Study ID Numbers: MSOT-01

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No