Neuromuscular Diseases
Conditions
Brief summary
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.
Interventions
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.
Sponsors
Children's Hospital of Eastern Ontario
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
No minimum to 18 Years
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Comparison of the quantitative proportion of collagen, lipid, and hemo/myoglobin signal | 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 collagen, lipid, and hemo/myoglobin signal determined by MSOT in muscle tissue of patients with different neuromuscular diseases with their clinical data. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Comparison of the quantitative proportion of oxygenated/deoxygenated hemo/myoglobin signal | 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 in muscle tissue of children with different neuromuscular diseases. |
| Comparison of the quantitative amount of oxygenated/deoxygenated hemo/myoglobin signal | 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 determined by MSOT in muscle tissue of children with different neuromuscular diseases |
| Comparison of the MSOT-determined quantitative amount of hemo/myoglobin, lipid, and collagen signal at different positions /muscle groups intraindividually | 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 in children with different neuromuscular diseases, to identify disease specific distribution patterns |
| Comparison of the quantitative proportion of oxygenated/deoxygenated hemo/myoglobin, lipid, and collagen signal determined by MSOT at different positions /muscle groups intraindividually | 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 in children with different neuromuscular diseases, to identify disease specific distribution patterns |
| Correlation of the collagen signal | 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 clinical assessments performed on a routine level during visits. |
| Correlation of the oxygenated/deoxygenated hemo/myoglobin signal determined with MSOT clinical assessments | 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 performed on a routine level during visits. |
| Comparison of the quantitative amount of lipid and collagen signal | 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 lipid and collagen signal determined by MSOT in muscle tissue of children with different neuromuscular diseases. |
| Correlation of the oxygenated/deoxygenated hemo/myoglobin signal determined by MSOT with routine laboratory tests | 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 such as blood CK levels, transaminases. |
| 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 collagen signal determined with 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 oxygenated/deoxygenated hemo/myoglobin signal determined by MSOT with patient reported outcome measures. |
| Correlation of the collagen signal determined with MSOT with the current treatment regimen | 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 in patients with NMD. |
| Correlation of the oxygenated/deoxygenated hemo/myoglobin signal determined by MSOT with the current treatment regimen | 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 in patients with NMD. |
| Correlation of the collagen signal determined with MSOT with routine laboratory tests | 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 such as blood creatine kinase (CK) levels, transaminases. |
Countries
Canada
Contacts
Primary ContactHanns Lochmuller, Dr.
Outcome results
None listed