SCA1, SCA2, SCA3, and SCA6 Through the Eyes of Patients: Illness Burden and Quality of Life



Poster Number: M271


Lauren Seeberger, MD, Department of Neurology, Veterans Affairs Medical Center, Boise, ID, Melissa Beiner, MD, Biohaven Pharmaceuticals, Inc., Michele Potashman, M.S., PhD, Biohaven, Anne Neumann, BSN, Biohaven, Skyler Jackson, BA, Engage Health, Inc., Austin Letcher, MS, Engage Health, Inc., Patti Engel, BSN, Engage Health, Inc., Lauren Moore, PhD, National Ataxia Foundation, Julie Greenfield, PhD, Ataxia UK, Giovanni Ristori, MD, Sant’Andrea Hospital, Sapienza University of Rome and Fondazione Santa Lucia IRCCS, Laura Heller, PharmD, Biohaven

Background: Spinocerebellar ataxias (SCAs) are ultra-rare, debilitating, neurodegenerative disorders with no available treatments to slow or halt disease progression. Data capturing the lived experiences of persons living with SCA (PWSCA) are essential for understanding the longitudinal impact of this disease and developing patient-centered treatments.

Objective: This study describes burden-of-disease experiences of PWSCA and their caregivers.

Methods: This global, cross-sectional, mixed-methods study included participants with confirmed SCA1, SCA2, SCA3, or SCA6 (or their caregivers) who used a secured, HIPPA/GDPR-compliant, online portal to provide demographic data, complete the SF-36® quality-of-life (QOL) measure, and report functional status. Afterwards, participants engaged in semi-structured telephone interviews with qualitative researchers and completed follow-up surveys to further describe their experiences with SCA.

Results: 80 participants from 15 countries completed both online surveys and qualitative interviews. Participants included 77 PWSCA (PWSCA1 = 19, PWSCA2 = 19, PWSCA3 = 19, PWSCA6 = 20; 57.5% female; mean age, 54 years) and 3 caregivers (SCA1 = 1, SCA2 = 1, SCA3 = 1). Mean SF-36 physical and mental component summary scores were <50 for all SCA subtypes and lowest in PWSCA3 (36.7 and 45.4, respectively). Participants ranked issues regarding independent living (12.3% of points), speech (13.9%), and gross motor function (42.2%) as their 3 highest burdens. In follow-up surveys (n = 70), 75.7% of participants experienced ≥1 fall over the past year; 81.2% of PWSCA3 experienced ≥5 falls. Among participants, 91.4% would consider an approved medication that slowed or stabilized disease progression “extremely meaningful” (5 on a scale of 0 to 5). More than 50% of PWSCA3 and PWSCA6 rated the importance of falling as an outcome of an approved therapy as 10, “extremely important” on a scale of 1-10. Conclusion: PWSCA reported experiencing significant disease-related physical morbidity, especially gross motor burdens, including falls, that markedly impacts QOL.