Progression of Friedreich Ataxia to Scoliosis and Cardiomyopathy: Utility of Real-World Data From Medical Claims
Pravin Khemani1, Shakti Nayar2, Boyang Bian3, Daniel Gomes4, Sarah England3, James McKay3, Ziyi Yang4, Robin L. Avila3
1Swedish Neuroscience Institute, 2Medstar Georgetown University Hospital, 3Biogen, INC, 4Voxanalytica
Objective:
To evaluate the utility of US claims data for the progression of Friedreich ataxia (FA) and to understand patient characteristics at time of diagnosis for a broad range of patients.
Background:
Prospective studies from FA centers of excellence, such as the Friedreich Ataxia Clinical Outcome Measures Study (FA-COMS) and the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS), have greatly enhanced our understanding of the natural history of FA. However, we are not aware of disease progression studies in FA based on real-world data from medical claims.
Design/Methods:
Retrospective study based on de-identified claims data linked to mortality data covering October 2015 to March 2024. The cohort was stratified according to age at FA diagnosis, based on International Classification of Diseases coding for FA: 0-7, 8-14, 15-24, and 25-39 years. Key endpoints included time to scoliosis and a cardiomyopathy (CM) composite (CM/heart failure [HF]/death).
Results:
The cohort for analysis included 927 patients with an FA diagnosis based on ≥2 medical claims for FA (ICD10 G11.11). The median (IQR) age at development of scoliosis was 9.3 (7.2-11.3), 13.4 (11.3-16.2), and 24.2 (17.2-not available [NA]; as <75% of patients had an event) for patients aged 0-7, 8-14, and 15-24 at diagnosis, respectively. The median (IQR) age at development of CM/HF/death was 9.8 (7.9-12.1), 15.4 (11.4-20.6), 26.4 (19.8-NA), and 44.8 (36.2-NA) for patients aged 0-7, 8-14, 15-24, and 25-39 at diagnosis, respectively. These real-world claims data have limitations in older populations, most of whom are in Medicare, but align with previously published data from FA-COMS on time to scoliosis in younger age groups.
Conclusions:
Real-world data from medical claims can augment evidence from natural history studies in FA to allow for analyses of a broader range of commercially insured patients and explore patient characteristics, practice patterns, and outcomes not currently available.
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