Establishing Multispectral Optoacoustic Tomography as an Imaging Biomarker

Congenital muscular dystrophies (CMDs) are a group of inherited disorders that cause muscle weakness from birth, which progressively worsens, leading to severe motor disability and related morbidity and mortality. Dr. Orbach expects new treatments for the two most common forms, collagen VI-related dystrophy (COL6-RD) and LAMA2-related dystrophy (LAMA2-RD), to enter human trials soon. "A major challenge in advancing these treatments to clinical practice is the absence of reliable, objective methods to track disease progression and assess treatment effectiveness," she says, noting the key factors for accelerating regulatory approval and ensuring global access to novel therapies.  Through her research, she has found current muscle imaging techniques, such as ultrasound and MRI, to have notable technical and practical limitations.

Dr. Orbach's study investigates the potential of Multispectral Optoacoustic Tomography (MSOT), a fast, non-invasive, radiation-free investigational imaging technology that can be used at the bedside. MSOT can detect and measure changes in muscle composition, including collagen and fat buildup, as the muscle disease progresses. By using MSOT to study patients with COL6-RD, LAMA2-RD, and healthy controls, Dr. Orbach and her team aim to assess this technology's ability to monitor muscular dystrophy severity and progression and compare MSOT's signals with traditional outcome measures, such as muscle MRI measures, motor performance scales, and patient-reported outcomes.

Her study seeks to fill the critical gap in existing methods and enhance clinical trial readiness. "Our goal is to establish MSOT as a safe, reliable, and informative tool for monitoring congenital muscular dystrophies," she says, adding, "Ultimately, MSOT could accelerate the development and approval of treatments for a wide range of muscular dystrophy subtypes." The findings are expected to have broad applicability across various neuromuscular disorders, including genetic myopathies, neuropathies, acquired conditions, and clinical care settings.