Developing an imaging biomarker in spinal and bulbar muscular atrophy (SBMA)
Candidate therapeutic strategies have been tested in preclinical models of SBMA, and
potential disease-modifying therapies will soon be evaluated in future clinical trials.
However, without appropriate biomarkers to assess disease progression reliably over a short
period of time, studies would require a large sample size and long duration to evaluate
efficacy. The goal of this study is to identify neuromuscular ultrasound (NMU) parameters
that serve as sensitive, reproducible, and cost-effective disease biomarkers for evaluating
efficacy in future therapeutic studies in spinal and bulbar muscular atrophy (SBMA). In
addition, the project will develop an ultrasound protocol to be used by neuromuscular
specialists in clinical practice to improve diagnostic accuracy and result in an earlier
diagnosis.
