MyGauchTM: a patient-centered digital health app for Gaucher disease.

Background: Gaucher disease (GD) is a rare genetic disorder caused by variants in the GBA1 gene, leading to a deficiency of β-glucocerebrosidase. This enzyme deficiency results in glucocerebroside accumulation in macrophages, forming "Gaucher" cells and causing symptoms such as hepatosplenomegaly, anemia, thrombocytopenia, and severe bone issues like osteonecrosis. While enzyme replacement therapy (ERT) and substrate reduction therapy (SRT) have improved the management of non-neuronopathic GD, type 1 Gaucher disease (GD1), patients still face significant challenges. Digital health technologies offer potential solutions by enabling continuous patient monitoring, treatment adherence, and patient-reported outcome measures. The aim of this study was to evaluate the use of a GD-specific app in adults with GD1. Methods: With input from GD experts and patient groups, the INTEGRATM platform was customized to meet the needs of patients with GD, resulting in the development of the MyGauchTM v1.0 app. This app, integrated with the INTEGRATM platform, facilitated patient care through the capture of genetic, clinical, laboratory, and biomarker data and secure data transmission. The app included components for tracking pain, fatigue, physical activity, nutrition, and medication adherence. It featured a structured GD-specific patient-reported outcome measurements (PROMs) questionnaire assessing disease burden and treatment satisfaction. Additional tools included medication reminders, communication with the Gaucher clinic, access to lab results, and educational resources. All components were integrated into a centralized dashboard. Adults (≥18 years) with GD1, access to a mobile phone, and receiving ERT or SRT at enrollment were eligible for the study. Improvement in satisfaction with GD treatment was assessed using a question on treatment satisfaction from the electronic PROMs questionnaire. Results: The study enrolled 90 adults with GD1 who received ERT or SRT and had access to the necessary technology. The improvement in satisfaction with the medical management of the GD with the use of MyGauchTM was modest and not associated with demographic, disease, or treatment-related factors. The high non-participation rate, limited use of the app's features, and lack of personalized feedback on physical activity and nutrition were noted as limitations. Conclusions: Although the development of MyGauchTM v1.0 represents a novel approach, low user engagement highlights the need for a newer app with improved features and patient education that would enhance patient's health. Future research should prioritize understanding and overcoming obstacles to successfully adopting digital tools in rare disease management and creating more comprehensive self-management solutions tailored to patient behaviors and needs.