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Abstract Details

Clinical Journey of Patients with Early/Typical-onset Friedreich Ataxia: A Real-world U.S. Claims Perspective
Movement Disorders
P4 - Poster Session 4 (8:00 AM-9:00 AM)
16-004
To characterize the patient journey through clinical specialties involved in diagnosis of early/typical-onset Friedreich ataxia (FA) based on US medical claims data.
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.

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.

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.

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.

Authors/Disclosures
Elissa Hult, PhD
PRESENTER
Dr. Hult has received personal compensation for serving as an employee of Biogen. Dr. Hult has or had stock in Biogen.
Alicia Henriquez, MD (Seattle Children's Hospital) Dr. Henriquez has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Italfarmaco. Dr. Henriquez has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Scholar Rock. Dr. Henriquez has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Biogen. Dr. Henriquez has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Catalyst. Dr. Henriquez has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Sarepta. Dr. Henriquez has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Biogen.
Boyang Bian Boyang Bian has received personal compensation for serving as an employee of Biogen. Boyang Bian has stock in Biogen.
Alexandra DiDonato, PharmD Dr. DiDonato has received personal compensation for serving as an employee of Biogen.
Sarah England, PhD (Biogen) Dr. England has received personal compensation for serving as an employee of Biogen. Dr. England has stock in Biogen.
Queeny Ip, PhD Ms. Ip has nothing to disclose.
Xinshuo Ma Ms. Ma has received personal compensation in the range of $100,000-$499,999 for serving as a Consultant for Komodo Health.
Wansu Chen, PhD Dr. Chen has nothing to disclose.
Jim McKay, PhD (Reata Pharmaceuticals) Dr. McKay has received personal compensation for serving as an employee of Biogen. Dr. McKay has or had stock in Biogen.
Robin L. Avila, PhD (Biogen) Mrs. Avila has received personal compensation for serving as an employee of Biogen. Mrs. Avila has stock in Biogen.
Partha S. Ghosh, MD, FAAN (Boston Children'S Hospital) Dr. Ghosh has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Sarepta. Dr. Ghosh has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Biogen.