For people with rare hereditary movement disorders, such as ARSACS, SPG7, and SCA1, no curative treatments exist and reliable methods to monitor disease progression are limited. This research developed the SPAX-app, a smartphone application in which patients perform tasks related to walking, balance, finger movements, and hand movements. The app clearly distinguished patients from healthy controls, and four key outcome measures proved reliable and strongly correlated with disease severity. In addition, gait parameters measured with wearable sensors in SCA1 patients were more sensitive to changes over one year than traditional clinical scales. Home measurements using the SPAX-app closely matched clinical assessments, with finger and hand tasks being particularly feasible. These results demonstrate that digital biomarkers can be effectively applied in patients’ daily lives. For successful implementation, it is crucial that patients and healthcare professionals are involved from the start, ensuring the technology fits clinical practice and supports daily functioning.
Ilse Willemse (1994) studied Technical Medicine at the University of Twente. She graduated in 2020 after developing a neural network to predict intracranial pressure at the ICU of Radboudumc. She then started her PhD at the Center of Expertise for Parkinson’s Disease and Rare Movement Disorders, focusing on digital biomarkers in rare movement disorders and coordinating local activities within the international PROSPAX consortium.