Diagnoses and Procedures Observed Prior to Friedreich Ataxia Diagnosis: A Real-World US Medical Claims Analysis

Topic:

Clinical Management

Poster Number: 291 T

Author(s):

Alicia Henriquez, MD, Seattle Children's Hospital, Meredith Hatcher, Texas Movement Disorder Specialists, Georgetown, TX, USA, Sarah Doss, University of Nebraska Medical Center, Omaha, NE, USA, Partha S. Ghosh, MD, Boston Children's Hospital, Pravin Khemani, MD, Swedish Neuroscience Institute, Seattle, WA, USA, Sarah M. England, PhD, Biogen, Inc., Queeny Ip, Komodo Health, Xinshuo Ma, Komodo Health, Saila Chen, Komodo Health, Robin Avila, PhD, Biogen, Alexandra DiDonato, PharmD, Biogen

Background: Friedreich ataxia (FA) is a rare, genetic neurodegenerative disorder typically presenting with progressive ataxia in childhood or adolescence. Time to diagnosis of FA varies; patients aged >20 years having the longest time to diagnosis. Limited data are available on differential diagnoses and procedures received by patients on their journey to definitive FA diagnosis.

Objective: To characterize diagnoses and procedures received by patients prior to diagnosis of FA.

Methods: This retrospective study used de-identified administrative claims data from Komodo Healthcare Map from 1/1/2016 to 12/31/2023. Patients were stratified by age at FA diagnosis. Eligible patients had ≥1 ataxia diagnosis (ICD-10-CM diagnosis code G11.1) from 1/1/2016 to 9/30/2020 and ≥1 FA diagnosis (ICD-10-CM code G11.11) from 10/1/2020 to 12/31/2023, or ≥2 FA diagnoses (G11.11) ≥30 days apart from 10/1/2020 to 12/31/2023. Index diagnosis was considered the first ataxia or FA diagnosis. Diagnoses (ICD-10-CM codes) and procedures (CPT/HCPCS codes) were observed in 3-month intervals in the 18-month pre-index period.

Results: The study included 4142 patients stratified by age at FA diagnosis: 0-17 years (n=727 [17.6%]), 18-25 years (n=537 [13.0%]), 26-39 years (n=896 [21.6%]), 40-59 years (n=1130 [27.3%]), and ≥60 years (n=844 [20.4%]). Diagnoses consistently observed in the 18-month period prior to FA diagnosis included essential hypertension, unspecified ataxia, unspecified hereditary ataxia, unspecified hyperlipidemia, and generalized muscle weakness. Overall, common procedures experienced included blood tests (complete blood count and lipids [cholesterol and triglycerides]), and exercise therapy to develop strength, endurance, range of motion, and flexibility.

Conclusions: Medical claims data enhance our understanding of the clinical journey of patients leading to FA diagnosis. Prior to FA diagnosis, patients encounter various healthcare professionals, receive a variety of diagnoses, and experience a multitude of procedures, which may lead to delayed time to definitive FA diagnosis. Expediting the diagnostic pathway for FA through timely referrals enables earlier intervention, which is imperative for reducing disease burden and enhancing patient quality of life.