Timing and Frequency of Onset Symptoms in Friedreich Ataxia Based on Real-world Medical Claims Data
Pravin Khemani1, Shakti V. Nayar2, Boyang Bian3, Daniel Gomes4, Sarah England3, James McKay3, Tony Wang4, Robin L. Avila3
1Swedish Neuroscience Institute, 2Medstar Georgetown University Hospital, 3Biogen, INC, 4Voxanalytica
Objective:
To estimate age at onset and evaluate the frequency of onset symptoms and other related medical events for Friedreich ataxia (FA) based on real-world data from US medical claims.
Background:
FA is a rare genetic condition with progressive neurological impairment. Natural history studies have evaluated FA onset symptoms collected in baseline interviews based on patient and provider recall. However, we are not aware of studies capturing FA onset events at the time of presentation for medical encounters based on real-world data from medical claims.
Design/Methods:
Retrospective cohort study of de-identified claims from October 2015 to March 2024. Cohort required ≥2 claims for FA (ICD10 G11.11), ≥1 year claims history prior to first claim for FA onset symptom or related conditions, FA diagnosis, or Medicare entry; stratification was based on age at FA onset 0-7, 8-14, 15-24, 25-39, and ≥40 years. Key endpoints included timing of FA onset symptoms and other related conditions, and median age at onset.
Results:
The cohort included 608 patients; median age at onset was 22 years (range, 1-86). The median age at first FA onset symptom was 4.0 (1.8-6.7), 11.5 (10.4-13.2), 19.1 (17.1-22.8), 30.7 (27.2-34.0), and 54.7 (46.6-61.4) for patients aged 0-7, 8-14, 15-24, 25-39, and ≥40 years, respectively. Ataxia/gait instability was the most common symptom before diagnosis (75%, n=454). Other conditions with medical encounters before FA diagnosis included asthenia (32%, n=196), clumsiness (21%, n=126), arrhythmia (13%, n=79), scoliosis (12%, n=74), and cardiomyopathy (10%, n=62). For patients who had available information on FA onset symptoms, 90% (n=149/404 patients) of first symptoms were neurological.
Conclusions:
Real-world data from medical claims can augment evidence from prospectively designed natural history studies in helping to identify FA-related events at the time of disease onset and prior to FA diagnosis, allowing for additional insights on the early burden of disease.
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