Objective: To characterize the patient journey through clinical specialties involved in the intermediate-to-late age at diagnosis of adult patients with Friedreich ataxia (FA) based on US medical claims data.

Background: FA is a rare, genetic, multisystem, neurodegenerative disorder that presents initially with ataxia. Time to diagnosis of FA is variable and dependent on age, with patients aged >20 years typically having the longest time to diagnosis. Limited data are available on the breadth of clinical specialists encountered by patients with FA on their diagnostic journey and initial diagnosis.

Method: This retrospective study used de-identified administrative claims data from Komodo Healthcare Map from 1/1/2016-12/31/2023. Patients were stratified by age at FA diagnosis: 18-25 (intermediate) and 26-39 (late) years. Eligible patients had ≥1 ataxia diagnosis (ICD-10-CM G11.1) from 1/1/2016-9/30/2020 and ≥1 FA diagnosis (G11.11) from 10/1/2020-12/31/2023, or ≥2 FA diagnoses (G11.11) ≥30 days apart from 10/1/2020-12/31/2023. Index diagnosis was considered the first ataxia or FA diagnosis. Referrals were observed in 3-month intervals from 18 months before through 18 months after index. Top ten specialties were captured at each interval.

Results: Among 1433 patients with FA included, the median age at FA diagnosis was 22.0 years for the intermediate cohort (n=537; 37.5%) and 32.0 years for the late cohort (n=896; 62.5%). The top 3 specialties observed in the intermediate cohort were family practice (FP; 21.9%), nurse practitioners (16.9%), and neurology (15.0%) 15-18 months before index; neurology (17.5%), FP (8.8%), and cardiology (6.3%) at index; and neurology (8.6%), FP (5.7%), and cardiology (4.8%) 16-18 months after index. In the late cohort, the respective top specialties observed by index were FP (29.3%), neurology (24.2%), and internal medicine (19.2%); neurology (14.6%), FP (13.8%), and internal medicine (10.8%); and FP (10.2%), neurology (9.9%), and internal medicine (7.4%).

Conclusion: Real-world data from medical claims enhance our understanding of the clinical journey of patients with FA, providing a broader range of patients than clinical trials. Various specialties intersect with patients, pre and post diagnosis, indicating a need for broad HCP educational awareness on signs, symptoms, and management of patients with FA.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/characterizing-the-patient-clinical-journey-before-and-after-diagnosis-of-friedreich-ataxia-and-differences-by-age-at-diagnosis/