Establishing Walking-related Digital Biomarkers in Rare Childhood Onset Progressive Neuromuscular Disorders

Establishing Walking-related Digital Biomarkers in Rare Childhood Onset Progressive Neuromuscular Disorders

The purpose of this research is (1) to identify disease specific walking-related digital biomarkers of disease severity, and (2) monitor longitudinal changes in natural environments, for extended periods of time, in DMD and SMA.

Spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD) are genetic disorders that often result in progressive weakness and impaired function. Our recent findings suggest that novel machine-learning (ML)-based abstraction models may map noisy signals from foot-worn sensors (namely, instrumented insoles developed by the project team) into accurate and clinically relevant spatiotemporal and kinetic gait parameters. These gait parameters derived from instrumented insoles may serve as functional biomarkers to detect changes in real world function. All participants will be observed and measured while wearing the instrumented insoles in the lab and in real-life environments.

Inclusion Criteria:

• Genetic confirmation of disease (DMD, SMA) or healthy control
• Able to walk independently at least 25 meters
• Ongoing corticosteroids therapy or initiation of corticosteroid therapy in the previous 3 months for DMD
• Stable dose of FDA approved SMN up-regulator therapy or in an open-label extension phase of a study treatment for at least 6 months for SMA or gene replacement at enrollment for SMA or DMD participants.

Exclusion Criteria:

• Use foot orthoses or assistive devices for community ambulation or a mobility device for community navigation
• Use investigational medications intended for treatment of NMD within 30 days
• Prior to study entry had an injury or surgery that would impact gait within the previous 3 months