Abstract Details

Title Progression of Friedreich Ataxia to Scoliosis and Cardiomyopathy: Utility of Real-World Data From Medical Claims

Topic Movement Disorders

Presentation(s) P12 - Poster Session 12 (11:45 AM-12:00 PM)

Poster/Presentation
Number 5-032

Objective

To evaluate the utility of US claims data for the progression of Friedreich ataxia (FA) and to understand patient characteristics at time of diagnosis for a broad range of patients.

Background

Prospective studies from FA centers of excellence, such as the Friedreich Ataxia Clinical Outcome Measures Study (FA-COMS) and the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS), have greatly enhanced our understanding of the natural history of FA. However, we are not aware of disease progression studies in FA based on real-world data from medical claims.

Design/Methods Retrospective study based on de-identified claims data linked to mortality data covering October 2015 to March 2024. The cohort was stratified according to age at FA diagnosis, based on International Classification of Diseases coding for FA: 0-7, 8-14, 15-24, and 25-39 years. Key endpoints included time to scoliosis and a cardiomyopathy (CM) composite (CM/heart failure [HF]/death).

Results The cohort for analysis included 927 patients with an FA diagnosis based on ≥2 medical claims for FA (ICD10 G11.11). The median (IQR) age at development of scoliosis was 9.3 (7.2-11.3), 13.4 (11.3-16.2), and 24.2 (17.2-not available [NA]; as <75% of patients had an event) for patients aged 0-7, 8-14, and 15-24 at diagnosis, respectively. The median (IQR) age at development of CM/HF/death was 9.8 (7.9-12.1), 15.4 (11.4-20.6), 26.4 (19.8-NA), and 44.8 (36.2-NA) for patients aged 0-7, 8-14, 15-24, and 25-39 at diagnosis, respectively. These real-world claims data have limitations in older populations, most of whom are in Medicare, but align with previously published data from FA-COMS on time to scoliosis in younger age groups.

Conclusions

Real-world data from medical claims can augment evidence from natural history studies in FA to allow for analyses of a broader range of commercially insured patients and explore patient characteristics, practice patterns, and outcomes not currently available.

Authors/Disclosures
Jim McKay, PhD (Reata Pharmaceuticals) PRESENTER	Dr. McKay has received personal compensation for serving as an employee of Biogen. Dr. McKay has or had stock in Biogen.
Pravin Khemani, MD, FAAN (Swedish Neuroscience Institute)	Dr. Khemani has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Cala Trio. Dr. Khemani has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Amneal. Dr. Khemani has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Neurocrine.
Shakti Nayar, MD	Dr. Nayar has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Biogen. Dr. Nayar has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Kyverna. Dr. Nayar has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for ArgenX. Dr. Nayar has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Sanofi.
Boyang Bian	Boyang Bian has received personal compensation for serving as an employee of Biogen. Boyang Bian has stock in Biogen.
Daniel Gomes	Mr. Gomes has received personal compensation for serving as an employee of Voxanalytica. Mr. Gomes has stock in Biogen. Mr. Gomes has stock in Roche. Mr. Gomes has stock in Novartis. Mr. Gomes has stock in Merck & Co. Inc.. Mr. Gomes has stock in Pfizer. Mr. Gomes has stock in Eli Lilly. The institution of Mr. Gomes has received research support from Biogen.
Sarah England, PhD (Biogen)	Dr. England has received personal compensation for serving as an employee of Biogen. Dr. England has stock in Biogen.
ZIYI YANG, MASTER	Ms. YANG has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Voxanalytica.
Robin L. Avila, PhD (Biogen)	Mrs. Avila has received personal compensation for serving as an employee of Biogen. Mrs. Avila has stock in Biogen.

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