Delphi study to elicit expert consensus around decision-making in the treatment of Friedreich ataxia

Sheng-Han Kuo¹Cuixia Tian²James McKay³Sarah M England³Monica Simon³Marlon Graf^4*Iris P Brewer⁴Natalie Land⁴Jacquelyn W Chou⁴Richard Lawson³

• ¹Columbia University Medical Center, New York, NY, United States
• ²Cincinnati Children's Hospital Medical Center & University of Cincinnati, College of Medicine, Cincinnati, OH, United States
• ³Biogen Inc, Cambridge, MA, United States
• ⁴Precision AQ, Bethesda, MD, United States

Introduction: Friedreich ataxia (FA) is a rare neurological disease. This study aimed to understand current FA management and treatment practices among neurologists. Methods: An online, modified Delphi study consisting of 34 United States (US)-based neurologists with varying levels of FA experience was conducted. The Delphi questionnaire consisted of likelihood, ranking, and parameter estimation questions related to FA decision-making practices. Data collection occurred in 3 sequential rounds: completion of Delphi questionnaire, webinar discussion, and re-completion of the questionnaire. Consensus was reached in Round 3 if the inter-quartile range [IQR] was ≤25 around the median group response [MED] (scaled 0-100) or if ≥75% of panelists ranked an option in the top-2. Results were analyzed for the full panel and separately for experienced FA-treaters. Results: Panelists strongly agreed overlapping symptoms with other ataxic or neurologic conditions is a key diagnostic challenge (MED=90, IQR=1.7) with misdiagnosis being the most important driver in delayed FA diagnoses (MR=1.7, 65% top-2). General neurological exams were the most frequently used tool to assess FA disease progression (MED=100, IQR=0) whereas panelists were largely unfamiliar with any of the clinical outcome assessment scales provided (MED range: 5-10, IQR range: 20-23). Experienced FA-treaters' responses were largely consistent with the full panel; however, some differences were observed. Discussion: Consensus was reached on a portion of questions regarding FA diagnosis and assessment, perhaps due to the rarity of disease and panelists' varying FA experience. To improve and standardize management of FA, it is important to establish best practices and educate potential FA treaters as new therapies emerge.