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Provider Perspectives on Friedreich Ataxia: A Cross-Sectional Survey to Assess Disease Familiarity and Decision-Making in the US

Year: 2026

Type: article

Abstract: Purpose: Friedreich ataxia (FA) is a rare degenerative neurological disease. This study assessed knowledge of FA disease characteristics and decision-making practices among healthcare providers (HCPs) in real-world clinical settings. Methods: During November 2024, we conducted a cross-sectional survey of US-based HCPs. Descriptive statistics were produced to characterize prior FA experience and baseline knowledge regarding FA diagnosis, management, and monitoring practices. Results: This sample included 392 HCPs, including 204 general providers and 188 neurologists. Overall, 74% of HCPs reported experience managing at least one patient with FA, however, over half (62%) indicated only being somewhat confident or not at all confident with identifying FA symptoms. A third (33%) of HCPs estimated an average FA diagnosis takes over 6 months to achieve. The majority indicated that a delayed FA diagnosis has a significant impact on a worse QoL and delays in treatment initiation. The most important treatment objective for HCPs was improving QoL, followed by improving function. Conclusion: Findings highlight that HCPs had limited familiarity with FA disease characteristics and management, which may contribute to challenges associated with the diagnostic journey, treatment initiation, and patient QoL. As additional therapies emerge, increased education for HCPs may help support optimal care and improve QoL for patients with FA.

Source: Degenerative Neurological and Neuromuscular Disease

DOI: 10.2147/dnnd.s627960