Results from a Remote 18-month Longitudinal Study in Friedreich’s Ataxia (LEOPARD-FA)
Judith Monickaraj1, Christina Shupe1, Jamison Seabury1, Anika Varma1, Spencer Rosero1, Jennifer Weinstein1, Charlotte Engebrecht1, Charlotte Irwin1, Preshetha Kanagaiah1, Jane Larkindale2, Susan Walther3, Ellen Wagner4, Nuran Dilek5, John Heatwole6, Christine Zizzi1, Courtney Park7, Mackenzie Wells7, David Lynch7, Chad Heatwole1
1University of Rochester Center for Health + Technology, 2PepGen Biotech Company, 3Friedreich’s Ataxia Research Alliance, 4University of Rochester, Department of Neurology, 5University of Rochester School of Medicine and Dentistry, 6College of Agriculture and Life Sciences, Cornell University, 7Children’s Hospital of Philadelphia
Objective:
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.
Background:
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.
Design/Methods:
We conducted an 18-month longitudinal study with patients and caregivers of FA. Participants were evaluated every six months using a remote REDCap platform. Participants provided demographic information and serially completed the FA-HI and FACR-HI, as well as the SF-36, PedsQL, global impression of change forms, and outcome preference questionnaires. Multifactorial disease burden was tracked using the FA-HI and FACR-HI, the minimal clinically important difference (MCID) was determined for each instrument, and demographic features were assessed for potential associations with faster or slower disease progression.
Results:
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.
Conclusions:
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.
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