To evaluate how disease burden in Friedreich’s ataxia (FA) changes overtime and identify factors associated with progression of disease using a remote, longitudinal study of caregivers and individuals with FA. 

In accordance with FDA guidelines, we previously developed and validated a regulatory-grade disease-specific PRO (the FA-HI) and observer-reported outcome measure (the FACR-HI) for assessing FA symptomatic health.

Baseline enrollment consisted of 47 individuals and caregivers of individuals with FA. Of these, 66% identified as female, with a mean age of 40 years old (SD = 13) for individuals with FA and 44 years old (SD = 6) for caregivers. At the interim 6-month assessment, participants identified the FA-HI and FACR-HI as better tools for addressing the most important symptoms in FA when compared with the SF-36 and PedsQL. The FA-HI and FACR-HI and their subscales were successfully completed by all participants using the remote platform.  A full analysis of the 18-month natural history data is forthcoming and will be presented at the conference. 

Point-in-time assessments of multifactorial patient disease burden can be obtained using the FA-HI and FACR-HI using a remote platform.  A thorough understanding of how FA symptomatic burden changes overtime and the availability of instruments capable of quantifying these changes is needed in preparation for future therapeutic trials.