Expert Consensus on Decision-making Practices in the Treatment of U.S. Individuals With Friedreich’s Ataxia – A Delphi Panel

Topic:

Clinical Trials

Poster Number: P182

Author(s):

Sheng-Han Kuo, PhD, Columbia University Medical Center, New York, NY, USA, Cuixia Tian, MD, Cincinnati Children's Hospital Medical Center, James McKay, PhD, Biogen, Inc., 225 Binney St, Cambridge, MA, US, Sarah M England, PhD, Biogen, Cambridge, MA, Monica Simon, PharmD, RPh, MS, Biogen, 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’s ataxia (FA) is a rare genetic neurological disease. In the context of emerging therapies, this study aims to understand current practice of FA management among neurologists.

Methods

Between May and September 2024, a panel of 34 U.S.-based neurologists participated in a 3-round online modified Delphi panel to provide insights and develop consensus regarding management for individuals with FA. Round one consisted of a survey on diagnosis, assessment, treatment, and familiarity/use of Clinical Outcome Assessment Scales (COAS) including the modified Friedreich’s Ataxia Rating Scale (mFARS) and the Scale for the Assessment and Rating of Ataxia (SARA). Round two involved anonymous webinars for panelists to provide feedback and additional context around initial survey responses. In round three, panelists re-completed the original survey. Consensus was reached if ≥75% of respondents ranked an option in the Top-2 or if the Inter-Quartile Range [IQR] was ≤25 around the median group response [MED] scaled 0-100.

Results

Panelists exhibited consensus that difficulty walking (mean rank [MR]=1.8, 82% Top-2) is the initial sign most associated with suspected FA and that a challenge in diagnosing FA is the overlapping preliminary symptoms with other ataxic or neurologic conditions (MED=90, IQR=17). Panelists unanimously agreed they were most likely to assess individuals with FA using a general neurologic exam (MED=100, IQR=0) and were highly unfamiliar with COAS (MED=5-10, IQR=20-23). Panelists strongly agreed a lack of familiarity was a challenge for adoption of COAS (mFARS: MR=1.8, 79% Top-2; SARA: MR=1.8, 82% Top-2).

Conclusion

Within our survey, panelists only reached consensus on a small number of questions regarding FA diagnosis and assessment, possibly owed to the rarity of disease and panelists’ varying FA experience. Neurologists agreed the general neurological exam is most used to monitor FA. It is important to establish best practices and educate potential FA treaters as new therapies emerge.