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Abstract Details

Onset of Bulbar Symptoms in Patients with Friedreich Ataxia: Analysis of U.S. Medicare Claims Data
Movement Disorders
P4 - Poster Session 4 (8:00 AM-9:00 AM)
16-008
To quantify age at onset of bulbar symptoms and loss of bulbar function in patients with Friedreich ataxia (FA) using real-world data from US Medicare claims.

FA is a rare genetic neurodegenerative disease leading to impaired muscle coordination and systemic complications. Bulbar symptoms (impairments in speech, swallowing, or breathing function) are key progression milestones and represent significant loss of independence for patients with FA. Limited data exist on age at which patients experience such bulbar impairments following entry into Medicare.

This retrospective study used de-identified medical claims and vital statistics (2005-2023) for patients with FA entering Medicare due to disability. Patients were stratified by age at disability/Medicare entry: 18-24, 25-34, 35-44, 45-54, and 55-64 years (age ≥65 excluded). Endpoints included time from entry to bulbar impairment (breathing, speech, swallowing) and loss of bulbar function (severe breathing impairment requiring ventilation, severe swallowing impairment requiring tube feeding, or loss of speech function including need for speech generation devices).

Among 6551 patients with FA, median age at disability/Medicare entry was 27.8 years; 49.3% were women. By age strata, median age at disability/Medicare entry was 20.0, 27.4, 37.2, 47.3, and 57.3 years, respectively. Bulbar impairment occurred in 88.5%, 88.9%, 90.8%, 92.3%, and 92.6% of patients by age strata, respectively. Estimated ages at onset by age strata were 33.8, 41.0, 46.7, 54.6, and 63.2 years for any bulbar impairment, and 40.6, 47.5, 51.2, 59.8, and 67.6 years for loss of bulbar function.

Claims data show bulbar impairment is a key disease progression milestone in FA, with symptoms emerging ≈8-13 years after Medicare entry and persisting ≈4-7 years before loss of bulbar function. These impairments mark a profound loss of independence and are associated with increased clinical complexity and healthcare resource use. These data provide insights on bulbar symptom progression in later-stage FA patients in Medicare.

Authors/Disclosures
Gyang Dareng (Biogen)
PRESENTER
Dr. Dareng 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.
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.
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.
Nicholas D'Alberto, PhD Dr. D'Alberto has stock in Biogen.