@article{ZahnGrotjohannRammetal., author = {Zahn, Robert and Grotjohann, Sarah and Ramm, Heiko and Zachow, Stefan and Pumberger, Matthias and Putzier, Michael and Perka, Carsten and Tohtz, Stephan}, title = {Influence of pelvic tilt on functional acetabular orientation}, series = {Technology and Health Care}, volume = {25}, journal = {Technology and Health Care}, number = {3}, publisher = {IOS Press}, doi = {10.3233/THC-161281}, pages = {557 -- 565}, language = {en} } @article{VuHanSchettinoWeissetal., author = {Vu-Han, Tu-Lan and Schettino, Rodrigo Bermudez and Weiß, Claudia and Perka, Carsten and Winkler, Tobias and Sunkara, Vikram and Pumberger, Matthias}, title = {An interpretable data-driven prediction model to anticipate scoliosis in spinal muscular atrophy in the era of (gene-) therapies}, series = {Scientific Reports}, volume = {14}, journal = {Scientific Reports}, number = {11838}, doi = {https://doi.org/10.1038/s41598-024-62720-w}, abstract = {5q-spinal muscular atrophy (SMA) is a neuromuscular disorder (NMD) that has become one of the first 5\% treatable rare diseases. The efficacy of new SMA therapies is creating a dynamic SMA patient landscape, where disease progression and scoliosis development play a central role, however, remain difficult to anticipate. New approaches to anticipate disease progression and associated sequelae will be needed to continuously provide these patients the best standard of care. Here we developed an interpretable machine learning (ML) model that can function as an assistive tool in the anticipation of SMA-associated scoliosis based on disease progression markers. We collected longitudinal data from 86 genetically confirmed SMA patients. We selected six features routinely assessed over time to train a random forest classifier. The model achieved a mean accuracy of 0.77 (SD 0.2) and an average ROC AUC of 0.85 (SD 0.17). For class 1 'scoliosis' the average precision was 0.84 (SD 0.11), recall 0.89 (SD 0.22), F1-score of 0.85 (SD 0.17), respectively. Our trained model could predict scoliosis using selected disease progression markers and was consistent with the radiological measurements. During post validation, the model could predict scoliosis in patients who were unseen during training. We also demonstrate that rare disease data sets can be wrangled to build predictive ML models. Interpretable ML models can function as assistive tools in a changing disease landscape and have the potential to democratize expertise that is otherwise clustered at specialized centers.}, language = {en} }