Exploring Patient and Caregiver Perspectives on Burden Associated with Friedreich Ataxia in the USA

Speaker(s)

Lawson R1, Setyawan J2, Natarajan S3, Martin ML4, Correll J4, Clark A4, Bushnell DM4, Khan S2
1Biogen, Gaithersburg, MD, USA, 2Employee of Reata Pharmaceutical at the time of this study. Reata was acquired by Biogen (Cambridge, MA) in 2023, Plano, TX, USA, 3Biogen, Cambridge, MA, USA, 4Evidera, a PPD Business, Bethesda, MD, USA

Presentation Documents

OBJECTIVES: Friedreich ataxia (FA) is a hereditary neurodegenerative disease characterized by progressive gait and limb ataxia with additional clinical manifestations in multiple organs. This study aimed to characterize the burden of FA symptoms and impacts from patient and caregiver perspectives.

METHODS: A sample of 20 FA patients and 11 caregivers from the US were recruited from the Friedreich Ataxia Research Alliance (FARA) registry and FA Facebook communities. Individual qualitative interviews (<45 minutes) were conducted via telephone by trained qualitative research interviewers to last no more than 45 minutes. Audio files were transcribed and coded to group concepts by similarity of theme or concept using ATLAS.ti software.

RESULTS: The 20 patients interviewed ranged from 22 to 36 years of age (mean 28.45), 75% were female and seven (35%) were still working full-time. The patients required an average of 55.5 hours per week of assistance from a caregiver. The most frequently reported symptoms were impaired speech (n=14; 70%), loss of balance (n=10; 50%) and decreased muscle coordination (n=8; 40%).

Negative impacts of symptoms included limited function in activities of daily living such as walking (n=15; 75%), dressing (n=11; 55%), limited social activities (n=11; 55%), personal care and hygiene (n=8; 40%), and falls (n=6; 30%). Additionally, 91% of caregivers reported observing falls, and 73% reported issues with patient personal care and hygiene.

Patients rated their symptom bothersomeness at 6.7, impact of FA on their ability to live their daily lives at 7.1, and their financial burden due to FA at 6.5, all on a 9-point scale where higher scores indicate greater negative impact.

CONCLUSIONS: From both the patient and caregiver perspective living with FA is highly burdensome for patients, negatively impacting their daily lives, and limiting their ability to lead a functional life, in areas like mobility and self-care.

Code

PCR39

Topic

Clinical Outcomes, Economic Evaluation, Patient-Centered Research, Study Approaches

Topic Subcategory

Patient Engagement, Performance-based Outcomes, Surveys & Expert Panels, Work & Home Productivity - Indirect Costs

Disease

Neurological Disorders, Rare & Orphan Diseases