Healthcare provider perspectives on Friedreich ataxia: Disease familiarity and decision-making practices

Topic:

Clinical Management

Poster Number: P172

Author(s):

Cuixia Tian, MD, Cincinnati Children's Hospital Medical Center, Sheng-Han Kuo, PhD, Columbia University Medical Center, New York, NY, USA, James McKay, PhD, Biogen, Inc., 225 Binney St, Cambridge, MA, US, Sarah M England, PhD, Biogen, Cambridge, MA, Marlon Graf, PhD, Precision AQ, Bethesda, MD, USA, Iris Brewer, MS, Precision AQ, Bethesda, MD, USA, Natalie Land, MPH, Precision AQ, Bethesda, MD, USA, Jacquelyn W. Chou, AB, Precision AQ, Bethesda, MD, USA, Richard Lawson, MSc, Biogen, Inc., 225 Binney St, Cambridge, MA, US

Objective
Friedreich ataxia (FA) is a rare genetic neurological disease. In the context of emerging therapies, this study assessed knowledge of FA disease characteristics and clinical decision-making practices of US health care providers (HCPs) in real-world clinical settings.
Methods
During October and November 2024, we conducted a cross-sectional survey of HCPs designed to assess their knowledge about FA and to characterize experiences and decision-making practices for patients with FA. HCPs were asked about their prior FA experience and how they would diagnose, manage, and monitor patients with FA.
Results
The sample included 392 HCPs, including 101 primary care physicians, 103 pediatricians, 28 pediatric neurologists, and 160 adult neurologists who have practiced for ≥5 years post-residency and spend at least 50% of their time in patient care. Overall, 74% of HCPs reported experience managing at least one patient with FA. Slightly over one-third (38%) of HCPs indicated being confident or very confident with identifying the symptoms of FA, while 36% and 25% were somewhat or not at all confident, respectively. A third (32.6%) of HCPs estimated that an average FA diagnosis takes over 6 months while 5.3% estimated a diagnosis taking 2 or more years. The majority indicated a delayed FA diagnosis has an above-average or very high impact on worse quality of life ([QoL], 64%) and delays in treatment initiation (60%). The most important treatment objective for HCPs was improving QoL followed by improving function.
Conclusion
Findings highlight that HCP’s familiarity with FA disease characteristics and management are limited, potentially contributing to delayed diagnoses and treatment, and could negatively impacting patient QoL. As new therapies emerge, increased education for HCPs is crucial to improving patient outcomes and QoL in FA.