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.

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