Indelicato, E;
Reetz, K;
Maier, S;
Nachbauer, W;
Amprosi, M;
Giunti, P;
Mariotti, C;
... Boesch, S; + view all
(2023)
Predictors of Survival in Friedreich's Ataxia: A Prospective Cohort Study.
Movement Disorders
10.1002/mds.29687.
(In press).
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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 < 0.001). Conclusions: Arrhythmias, progressive neurological disability, and diabetes mellitus influence the overall survival in FA. We built a survival prognostic score which identifies patients meriting closer surveillance and who may benefit from early invasive cardiac monitoring and therapy. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
| Type: | Article |
|---|---|
| Title: | Predictors of Survival in Friedreich's Ataxia: A Prospective Cohort Study |
| Location: | United States |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1002/mds.29687 |
| Publisher version: | http://dx.doi.org/10.1002/mds.29687 |
| Language: | English |
| Additional information: | © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made. |
| Keywords: | Friedreich's ataxia, cardiomyopathy, diabetes mellitus, disability stage, survival |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10184905 |
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