Abstract Details

Title Timing and Frequency of Onset Symptoms in Friedreich Ataxia Based on Real-world Medical Claims Data

Topic Movement Disorders

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

Poster/Presentation
Number 5-031

Objective To estimate age at onset and evaluate the frequency of onset symptoms and other related medical events for Friedreich ataxia (FA) based on real-world data from US medical claims.

Background

FA is a rare genetic condition with progressive neurological impairment. Natural history studies have evaluated FA onset symptoms collected in baseline interviews based on patient and provider recall. However, we are not aware of studies capturing FA onset events at the time of presentation for medical encounters based on real-world data from medical claims.

Design/Methods

Retrospective cohort study of de-identified claims from October 2015 to March 2024. Cohort required ≥2 claims for FA (ICD10 G11.11), ≥1 year claims history prior to first claim for FA onset symptom or related conditions, FA diagnosis, or Medicare entry; stratification was based on age at FA onset 0-7, 8-14, 15-24, 25-39, and ≥40 years. Key endpoints included timing of FA onset symptoms and other related conditions, and median age at onset.

Results The cohort included 608 patients; median age at onset was 22 years (range, 1-86). The median age at first FA onset symptom was 4.0 (1.8-6.7), 11.5 (10.4-13.2), 19.1 (17.1-22.8), 30.7 (27.2-34.0), and 54.7 (46.6-61.4) for patients aged 0-7, 8-14, 15-24, 25-39, and ≥40 years, respectively. Ataxia/gait instability was the most common symptom before diagnosis (75%, n=454). Other conditions with medical encounters before FA diagnosis included asthenia (32%, n=196), clumsiness (21%, n=126), arrhythmia (13%, n=79), scoliosis (12%, n=74), and cardiomyopathy (10%, n=62). For patients who had available information on FA onset symptoms, 90% (n=149/404 patients) of first symptoms were neurological.

Conclusions Real-world data from medical claims can augment evidence from prospectively designed natural history studies in helping to identify FA-related events at the time of disease onset and prior to FA diagnosis, allowing for additional insights on the early burden of disease.

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.
Tony Wang, PhD	Dr. Wang has nothing to disclose.
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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