Objective: The aim of HD-RAC studies is to answer focused research questions or collect pilot data for use of digital health technology (DHT) in clinical outcomes assessments (COAs) relating to Huntington’s disease (HD).

Background: The HD Society of America (HDSA) Annual Convention provides a unique opportunity to engage the community and conduct observational research. We describe study design and utility of the HD-RAC study series conducted at the convention by CHDI Foundation Inc. (CHDI), a nonprofit organization dedicated to developing HD therapeutics, over four consecutive years (2022-2025). HDSA support provides space, advertises the study and encourages participation.

Method: HD-RAC studies involve minimal risk IRB approved protocol with waiver of documentation of consent. The convention attracts around 800 people with HD (PwHD) and family members annually. CHDI partners with COA researchers and DHT companies to collect pilot data on traditional and digital COAs assessing motor (fine motor movements, gait or eye movements), speech, and cognition.  Each year (i) 2-4 unique COAs and Functional Rating Scale 2.0 (FuRST 2.0), a novel measure of functional ability, are administered and (ii) biofluid samples are collected.

Results: 156, 205, 179 and 157 participants were recruited respectively from 2022-2025. Average CAP100 score for participants with HD ranges from 90 to 100. Data on (i) ability of DHT based COAs to distinguish between controls and PwHD and track disease progression and (ii) pilot data on novel biomarkers such as GFAP will be presented. Key highlights of analyses from the studies include: Neurofilament light (NfL) levels in simultaneously collected serum and plasma samples are comparable (2022); Novel digital features of finger tapping and pronation-supination  are sensitive to change early in disease progression (2023); FuRST 2.0 is moderately correlated to NfL levels and digital finger tapping score (2022-2025); and, the International Shopping List Test and Hopkins Verbal Learning Test-Revised produce comparable output suggesting potential interchangeability (2024).

Conclusion: CHDI has successfully executed the HD-RAC series and efficiently generated valuable pilot data while engaging the HD community. Protocol-driven research conducted in a family convention setting is feasible and impactful enabling evaluation of novel COAs and biomarkers.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/hd-rac-huntingtons-disease-research-at-convention-series-novel-approach-to-pilot-data-collection-for-outcome-measures-in-huntingtons-disease/