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@ARTICLE{Weinreich:282301,
author = {Weinreich, Marcel and McDonough, Harry and Heverin, Mark
and Domhnaill, Éanna Mac and Yacovzada, Nancy and Magen,
Iddo and Cohen, Yahel and Harvey, Calum and Elazzab, Ahmed
and Gornall, Sarah and Boddy, Sarah and Alix, James J P and
Kurz, Julian M and Kenna, Kevin P and Zhang, Sai and
Iacoangeli, Alfredo and Al-Khleifat, Ahmad and Snyder,
Michael P and Hobson, Esther and Chio, Adriano and
Malaspina, Andrea and Hermann, Andreas and Ingre, Caroline
and Costa, Juan Vazquez and van den Berg, Leonard and
Panadés, Monica Povedano and van Damme, Philip and Corcia,
Phillipe and de Carvalho, Mamede and Al-Chalabi, Ammar and
Hornstein, Eran and Elhaik, Eran and Shaw, Pamela J and
Hardiman, Orla and McDermott, Christopher and Cooper-Knock,
Johnathan},
title = {{O}ptimised machine learning for time-to-event prediction
in healthcare applied to timing of gastrostomy in {ALS}: a
multi-centre, retrospective model development and validation
study.},
journal = {EBioMedicine},
volume = {121},
issn = {2352-3964},
address = {Amsterdam [u.a.]},
publisher = {Elsevier},
reportid = {DZNE-2025-01271},
pages = {105962},
year = {2025},
abstract = {Amyotrophic lateral sclerosis (ALS) is invariably fatal but
there are large variations in the rate of progression. The
lack of predictability can make it difficult to plan
clinical interventions. This includes the requirement for
gastrostomy where early or late placement can adversely
impact quality of life and survival.We designed a model to
predict the timing of gastrostomy requirement in ALS as
indicated by $5\%$ weight loss from diagnosis. We considered
>5000 different prediction model configurations including
spline models and a set of deep learning (DL) models
designed for time-to-event prediction. The optimal
prediction model was chosen via a Bayesian framework to
avoid overfitting. Model covariates were measurements
routinely collected at diagnosis; a separate longitudinal
model also incorporated weight at six months. We employed a
training dataset of 3000 patients from Europe, and two
external validation cohorts spanning distinct populations
and clinical contexts (United States, n = 299; and Sweden, n
= 215). Missing data was imputed using a random forest
model.The optimal model configuration was a logistic hazard
DL model. The optimal model achieved a median absolute error
(MAE) between predicted and measured time of 3.7 months,
with AUROC 0.75 for gastrostomy requirement at 12 months. To
increase accuracy we updated predictions for those who had
not received gastrostomy at six months after diagnosis: here
MAE was 2.6 months (AUROC 0.86). Combining both models
achieved MAE of 1.2 months for the modal group of patients.
Prediction performance is stable across both validation
cohorts. Missing data was imputed without degrading model
performance.To enter routine clinical practice a prospective
study will be required, but we have demonstrated stable
performance across multiple populations and clinical
contexts suggesting that our prediction model can be used to
guide individualised gastrostomy decision making for
patients with ALS.Research Ireland (RI) and Biogen have
supported the PRECISION ALS programme.},
keywords = {Humans / Gastrostomy: methods / Amyotrophic Lateral
Sclerosis: diagnosis / Amyotrophic Lateral Sclerosis:
surgery / Amyotrophic Lateral Sclerosis: therapy / Machine
Learning / Male / Female / Retrospective Studies / Middle
Aged / Aged / Europe / Bayes Theorem / Amyotrophic lateral
sclerosis (ALS) (Other) / Gastrostomy (Other) / Machine
learning (Other) / Personalised medicine (Other) /
Time-to-event prediction (Other)},
cin = {AG Hermann},
ddc = {610},
cid = {I:(DE-2719)1511100},
pnm = {353 - Clinical and Health Care Research (POF4-353)},
pid = {G:(DE-HGF)POF4-353},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:41075354},
pmc = {pmc:PMC12547709},
doi = {10.1016/j.ebiom.2025.105962},
url = {https://pub.dzne.de/record/282301},
}