Project 3

Boston Children'S Hospital, Boston MA

Investigators

Abstract

ABSTRACT/SUMMARY: Hereditary spastic paraplegias (HSPs) are a diverse group of over 80 rare neurogenetic disorders, representing the most common cause of inherited spasticity and related disabilities worldwide. All HSPs are characterized by progressive lower limb spasticity, weakness, and significant motor impairment. Clinical Research Project 3 aims to create and validate digital biomarkers that accurately reflect disease progression in HSP, enabling more sensitive and specific outcome measures for clinical trials. Wearable activity monitors and inertial sensors as digital surrogates gather details about disease manifestations in a more individualized and finer-grained way, using sophisticated algorithms harnessing artificial intelligence and machine learning to integrate the resulting wealth of data with other kinds of clinical information. This type of deep phenotyping will provide more specificity, new types of big data, and potential connections between HSP subforms and genetic variations, in support of the genetic Project 2. In summary, Project 3 will significantly improve ‘clinical trial readiness’ for multiple forms of HSPs, add layers of digital phenotypes for improved stratification of different HSP subforms, and potentially simplify future clinical trial data collections - thus aligning with and especially support the goals of Clinical Research Projects 1.