Provider Perspectives on Friedreich Ataxia: A Cross-Sectional Survey to Assess Disease Familiarity and Decision-Making in the US.
4 affiliations
- 1Division of Neurology, Cincinnati Children's Hospital Medical Center & University of Cincinnati, College of Medicine, Cincinnati, OH, USA.
- 2Department of Neurology, Columbia University Medical Center, New York, NY, USA.
- 3Biogen, Inc., Cambridge, MA, USA.
- 4Evidence Solutions, Precision AQ, Bethesda, MD, USA.
Abstract
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. 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. 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. 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.
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BibTeX
@article{tian2026provider,
title = {{Provider Perspectives on Friedreich Ataxia: A Cross-Sectional Survey to Assess Disease Familiarity and Decision-Making in the US.}},
author = {Cuixia Tian and Sheng-Han Kuo and James McKay and Sarah M England and Carol M Franceschino and Monica B Simon and Marlon Graf and Iris P Brewer and Natalie Land and Jacquelyn W Chou and Richard Lawson},
journal = {Degenerative neurological and neuromuscular disease},
year = {2026},
month = oct,
doi = {10.2147/dnnd.s627960},
url = {https://europepmc.org/article/MED/42953761},
note = {CC BY-NC},
}
RIS
TY - JOUR
TI - Provider Perspectives on Friedreich Ataxia: A Cross-Sectional Survey to Assess Disease Familiarity and Decision-Making in the US.
AU - Cuixia Tian
AU - Sheng-Han Kuo
AU - James McKay
AU - Sarah M England
AU - Carol M Franceschino
AU - Monica B Simon
AU - Marlon Graf
AU - Iris P Brewer
AU - Natalie Land
AU - Jacquelyn W Chou
AU - Richard Lawson
PY - 2026
DA - 2026/10/24
JO - Degenerative neurological and neuromuscular disease
DO - 10.2147/dnnd.s627960
UR - https://europepmc.org/article/MED/42953761
AB - 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. 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. 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. 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.
SN - 1179-9900
ER -