Neuromuscular disorders (NMDs) are generally variably progressing, rare diseases causing devastating skeletal muscle injury resulting in severe disability and even death. In the intensive search for treatments and cures, MRI has emerged as a promising clinical and drug development tool that can detect early disease progression and treatment effects before loss of muscle function or disability can be observed with clinical assessments.
Muscle atrophy and muscle fat replacement are hallmarks of NMDs. Most NMDs are characterized by heterogeneity in the pattern and timing of muscle involvement among patients. This causes significant variability and leads to challenges in the assessment of potential treatment effects. Recent technical advances have led to the development of muscle biomarkers based on whole-body water and fat separated MRI that can describe the distribution and progression of muscle atrophy and fat replacement with high precision and accuracy. Imaging the whole body enables the identification of a personalized set of affected muscles, decreasing the variability and increasing the sensitivity of efficacy assessment.
In this webinar, two experts review techniques for whole-body MRI and its application in NMD clinical research. Technical aspects are discussed, including:
- Practical implementation of MRI scanning protocols
- Image analysis techniques
- Biomarker definitions
- How challenges related to multi-site implementation can be addressed
Further, featured speakers discuss how measurements from multiple muscles based on a whole-body MRI scan can be combined into composite scores optimized to describe specific aspects of disease onset pattern, functional impairment, and disease progression between scans. Finally, experiences from recent clinical trials in facioscapulohumeral muscular dystrophy (FSHD) is discussed exemplifying how such composite scores can be used as endpoints.
