Objective: To evaluate cardiac specific markers and clinical metrics associated with Friedreich’s Ataxia (FA) and FA cardiomyopathy severity and progression.

Background: Friedreich’s Ataxia is a rare recessive neuromuscular disorder typified by progressive ataxia caused by extended GAA repeats in the frataxin gene. In addition to neurologic features, cardiomyopathy is a common finding in FA contributing to increased mortality.  Research has focused on neuromuscular symptoms and indicators, however identifying effective cardiac markers and associated clinical metrics may help predict who will develop cardiac disease and benefit from early treatment.

Method: As part of a multi-year cohort, FA patients and related heterozygous carriers had history, blood markers, and cardiac diagnostics (ECG, Echocardiogram, Magnetic Resonance Imaging) evaluated. Neurologic and cardiac clinical status were evaluated via the FA Functional staging score, FA Rating Score- Activities of Daily Living (FARS-ADL), Scale for the Assessment and Rating of Ataxia (SARA), and the Kansas City Cardiomyopathy Questionnaire-12 (KCCQ-12). Results were predicted from regression models using 242 markers with GLMnet from initial year-one data.

Results: KCCQ-12 scores were lower in the FA group versus heterozygous carriers. Low KCCQ values correlated with a high functional staging score (Spearman’s rho=-0.62, p<0.001) and FARS-ADL (Spearman’s rho=-0.67, p<0.001) indicating advanced neurologic disease, however there was variability when compared to other neurologic metrics. In the FA group, those with low KCCQ-12 scores were more likely to have abnormal cardiac parameters including left ventricular volume and chamber size.

Conclusion: These preliminary findings suggest that the KCCQ-12 may have promise as a clinical metric for FA cardiac disease however, further evaluation is needed as the contribution of significant neurologic dysfunction to the overall score is not known. Additionally, with robust clinical, translational and molecular data points, this study provides the foundation for creation of a multi-measurement, integrated cardiac specific metric in FA to identify early heart disease and monitor progression.  Future research will focus on evaluating longitudinal data and clarifying associations with both neurologic and cardiac clinical metric assessments with imaging and blood biomarkers.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/evaluation-of-cardiac-markers-and-clinical-metrics-in-friedreichs-ataxia/