Advanced Imaging Using Multispectral Optoacoustic Tomography to Study Centronuclear Myopathy in Patients and Healthy Controls

What this Trial Is About

Centronuclear myopathy CNM is a rare congenital muscle disorder characterized by muscle weakness and abnormal placement of nuclei in muscle cells. This research aims to gather detailed molecular information about muscle degeneration in CNM patients using a new imaging method called multispectral optoacoustic tomography MSOT. The study includes 20 CNM patients and 20 healthy individuals matched by age and sex to compare muscle characteristics. Participants will undergo physical exams, clinical and functional tests, and MSOT imaging at various muscle sites including paraspinal, trapezius, deltoid, forearm flexors, quadriceps, adductor, hamstrings, triceps surae, and tibialis anterior muscles. MSOT is a non-invasive technique using near-infrared light pulses to produce ultrasound waves, enabling detailed visualization of muscle components like collagen, myoglobin, and hemoglobin. The study will collect data during a single visit on day 1. During the visit, researchers will measure muscle strength, perform timed functional tests, and conduct MSOT scans at predefined muscle locations. They will analyze optoacoustic spectra and compare signals from hemoglobin, myoglobin, lipids, and collagen. Correlations with disease duration, age, and muscle strength will also be assessed. Participation involves one study day with examinations and imaging, with no invasive procedures or anesthesia required.

Multispectral Optoacoustic Tomography for Advanced Imaging of Centronuclear Myopathy