Predictors of Survival in Friedreich's Ataxia: A Prospective Cohort Study

ABSTRACT Background Friedreich's ataxia (FA) is a rare multisystemic disorder which can cause premature death. Objectives To investigate predictors of survival in FA. Methods Within a prospective registry established by the European Friedreich's Ataxia Consortium for Translational Studies...

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Published in:Movement disorders 2024-03, Vol.39 (3), p.510-518
Main Authors: Indelicato, Elisabetta, Reetz, Kathrin, Maier, Sarah, Nachbauer, Wolfgang, Amprosi, Matthias, Giunti, Paola, Mariotti, Caterina, Durr, Alexandra, Rivera Garrido, Francisco J.R., Klopstock, Thomas, Schöls, Ludger, Klockgether, Thomas, Bürk, Katrin, Pandolfo, Massimo, Didszun, Claire, Grobe‐Einsler, Marcus, Nanetti, Lorenzo, Nenning, Lukas, Kiechl, Stefan, Dichtl, Wolfgang, Ulmer, Hanno, Schulz, Jörg B., Boesch, Sylvia
Format: Article
Language:English
Subjects:
Ataxia
cardiomyopathy
Diabetes
Diabetes mellitus
disability stage
Echocardiography
Friedreich's ataxia
Heart
Life tables
Medical prognosis
Movement disorders
Neurological complications
Survival
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Summary:ABSTRACT Background Friedreich's ataxia (FA) is a rare multisystemic disorder which can cause premature death. Objectives To investigate predictors of survival in FA. Methods Within a prospective registry established by the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS; ClinicalTrials.gov identifier NCT02069509) we enrolled genetically confirmed FA patients at 11 tertiary centers and followed them in yearly intervals. We investigated overall survival applying the Kaplan–Meier method, life tables, and log‐rank test. We explored prognostic factors applying Cox proportional hazards regression and subsequently built a risk score which was assessed for discrimination and calibration performance. Results Between September 2010 and March 2017, we enrolled 631 FA patients. Median age at inclusion was 31 (range, 6–76) years. Until December 2022, 44 patients died and 119 terminated the study for other reasons. The 10‐year cumulative survival rate was 87%. In a multivariable analysis, the disability stage (hazard ratio [HR] 1.51, 95% CI 1.08–2.12, P = 0.02), history of arrhythmic disorder (HR 2.93, 95% CI 1.34–6.39, P = 0.007), and diabetes mellitus (HR 2.31, 95% CI 1.05–5.10, P = 0.04) were independent predictors of survival. GAA repeat lengths did not improve the survival model. A risk score built on the previously described factors plus the presence of left ventricular systolic dysfunction at echocardiography enabled identification of four trajectories to prognosticate up to 10‐year survival (log‐rank test P 
ISSN:0885-3185
1531-8257
DOI:10.1002/mds.29687