Clinical Journey of Patients with Early/Typical-onset Friedreich Ataxia: A Real-world U.S. Claims Perspective
Alicia Henriquez1, Boyang Bian2, Alexandra DiDonato2, Sarah England2, Queeny Ip3, Xinshuo Ma3, Saila Chen3, James McKay2, Robin Avila2, Partha Ghosh4
1Seattle Children's Hospital, 2Biogen Inc, 3Komodo Health, 4Boston Children's Hospital
Objective:
To characterize the patient journey through clinical specialties involved in diagnosis of early/typical-onset Friedreich ataxia (FA) based on US medical claims data.
Background:
FA is a rare, genetic neurodegenerative disorder typically presenting with progressive ataxia in childhood or adolescence. Children and adolescents may encounter multiple specialists requiring significant travel before receiving a definitive diagnosis, which may impact care; however, limited real-world data are available on these aspects of care.
Design/Methods:

This retrospective study used de-identified claims data from Komodo Healthcare Map from 1/1/2016-12/31/2023. Patients with early/typical-onset FA (diagnosed at 0-17) were included. 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 the first ataxia or FA diagnosis. Referrals were observed in 3-month intervals from 18 months before to 18 months after index. The top specialties per interval and geographic distance to referral to ataxia centers of excellence (CoEs; defined as FACOMS or UNIFAI sites) were captured.

Results:

Among 727 patients with early/typical-onset FA, median age at diagnosis was 12.0 years (53.9% male, 73.5% White). The top 3 specialties observed 16-18 months before index were pediatrics (41.6%), assistive therapy (13.3%), and pediatric cardiology (13.3%); at index were pediatric neurology (17.1%), neurology (12.7%), and pediatric cardiology (11.6%); and 16-18 months after index were pediatric cardiology (9.0%), orthopedic surgery (6.2%), and neurology (6.0%). A total of 184/727 patients (25.1%) visited a CoE; the median (IQR) distance from referral HCP to first CoE visit was 331.9 (87.5-645.6) miles.

Conclusions:

Early/typical-onset patients with FA most often encountered pediatricians or pediatric specialists on their diagnostic journey, highlighting the central role of pediatric and subspecialty care in identifying and managing FA. Patients travel significant distances to centers. Increasing access to care is imperative to improving patient outcomes.

10.1212/WNL.0000000000215290
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