Onset of Cardiomyopathy and Cardiovascular Disease-Related Burden in Friedreich Ataxia: Real-World Data From Medical Claims
Author(s)
Sheng-Han Kuo, MD1, Boyang Bian, PhD2, Sarah M. England, PhD2, Daniel R.J. Gomes, MSc3, Jim McKay, PhD2, Tony Wang, MSc3, Robin L. Avila, PhD2, Susan Perlman, MD4.
1Columbia University Medical Center, New York, NY, USA, 2Biogen, Inc., Cambridge, MA, USA, 3Voxanalytica, San Francisco, CA, USA, 4Ronald Reagan UCLA Medical Center, Los Angeles, CA, USA.
1Columbia University Medical Center, New York, NY, USA, 2Biogen, Inc., Cambridge, MA, USA, 3Voxanalytica, San Francisco, CA, USA, 4Ronald Reagan UCLA Medical Center, Los Angeles, CA, USA.
Presentation Documents
OBJECTIVES: Friedreich ataxia (FA) is a rare genetic, progressive, neurodegenerative condition leading to impaired muscle coordination and other systemic complications. The primary cause of death for FA is cardiomyopathy (CM) progressing to heart failure (HF). There is limited information on the natural progression of CM and FA, particularly based on US real-world data.
METHODS: We conducted a retrospective study based on de-identified US medical claims data linked to mortality data from October 2015 to March 2024. We stratified patients according to the age at FA diagnosis: 0-7, 8-14, 15-24, and 25-39 years. Key endpoints included age at first encounter for the composite of CM, HF, or death (CM/HF/Death) +/- cardiomegaly, as well as incidence of any cardiovascular (CV)-related health care encounters.
RESULTS: We identified 927 patients with FA in the medical claims data. The median age at first encounter for CM/HF/Death was 9.8, 15.4, 26,4, and 44.8 years for patients with FA diagnosed at age 0-7, 8-14, 15-24, and 25-39 years, respectively. Signs of CM occurred between 1-3 years earlier when cardiomegaly was included; burden related to encounters for any CV disease started at age 7.0, 12.6, 20.7, 33.7 years for patients in the respective age cohorts. Other common cardiovascular complications included arrhythmias, rhythm disorders, and heart valve disorders.
CONCLUSIONS: These data show the natural progression of CV events in FA. Our findings demonstrate that patient burden related to progressive CM begins at an early age and that other cardiac disease, particularly arrhythmias and rhythm and heart valve disorders, may begin 2-11 years prior to CM, with CV onset as early as age 7 in the youngest patients. These data have limitations in older populations and those in Medicare but provide previously unavailable data on the onset of CM and CV disease in patients with FA based on real-world data from US medical claims.
METHODS: We conducted a retrospective study based on de-identified US medical claims data linked to mortality data from October 2015 to March 2024. We stratified patients according to the age at FA diagnosis: 0-7, 8-14, 15-24, and 25-39 years. Key endpoints included age at first encounter for the composite of CM, HF, or death (CM/HF/Death) +/- cardiomegaly, as well as incidence of any cardiovascular (CV)-related health care encounters.
RESULTS: We identified 927 patients with FA in the medical claims data. The median age at first encounter for CM/HF/Death was 9.8, 15.4, 26,4, and 44.8 years for patients with FA diagnosed at age 0-7, 8-14, 15-24, and 25-39 years, respectively. Signs of CM occurred between 1-3 years earlier when cardiomegaly was included; burden related to encounters for any CV disease started at age 7.0, 12.6, 20.7, 33.7 years for patients in the respective age cohorts. Other common cardiovascular complications included arrhythmias, rhythm disorders, and heart valve disorders.
CONCLUSIONS: These data show the natural progression of CV events in FA. Our findings demonstrate that patient burden related to progressive CM begins at an early age and that other cardiac disease, particularly arrhythmias and rhythm and heart valve disorders, may begin 2-11 years prior to CM, with CV onset as early as age 7 in the youngest patients. These data have limitations in older populations and those in Medicare but provide previously unavailable data on the onset of CM and CV disease in patients with FA based on real-world data from US medical claims.
Conference/Value in Health Info
2025-05, ISPOR 2025, Montréal, Quebec, CA
Value in Health, Volume 28, Issue S1
Code
RWD132
Topic
Real World Data & Information Systems
Topic Subcategory
Health & Insurance Records Systems
Disease
SDC: Neurological Disorders