Development of at-home speech and wearable sensor biomarkers for ataxia-telangiectasia

Awardee: Anoopum Gupta

Institution: Massachusetts General Hospital and Harvard Medical School

Award Amount: $129,898

Funding Period: February 1, 2021 - January 31, 2022


Final Report Lay Summary:

Promising disease-modifying therapies are being developed for ataxia-telangiectasia and other pediatric neurological diseases, but current assessment tools are very insensitive at determining efficacy, resulting in large and expensive trials. This project aimed to develop precise motor outcome measures, using inexpensive and widely accessible digital technologies, that can sensitively determine if a therapy is effective in children of a l ages. We co lected continuous wrist accelerometer data from 31 individuals with ataxiatelangiectasia and 27 controls aged 2-20 years old. Longitudinal wrist sensor data were colected in 14 ataxia-telangiectasia participants and 13 controls. A novel algorithm was developed to extract wrist movement patterns the accelerometer data. Wrist sensor features were compared with caregiver-reported motor function and ataxia severity on neurologist-performed ataxia rating scales. We found that these wrist sensor-based features show strong potential as novel disease measures for clinical trials: they demonstrate high reliability, correlate with clinician assessments of motor severity and caregiverreported motor function, and show potential to sensitively quantify disease progression. By passively measuring everyday activity, the information obtained can be more ecologica ly valid and comprehensive than task-specific measurements and is applicable in young children as we l in older, non-ambulatory individuals.

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Determination of the retinal functions of VPS13B using a murine model and assessment of exon-skipping as a therapeutic strategy for Cohen Syndrome in patient-derived cells