Artificial Intelligence, Connected Care, and Enabling Digital Health Technologies in Rare Diseases With a Focus on Lysosomal Storage Disorders: Scoping Review.
WHY IT MATTERS
If you have a lysosomal storage disorder, this research could lead to faster diagnosis, better remote monitoring through connected devices, and AI tools that help your doctors catch problems earlier—potentially improving your long-term care and quality of life.
Researchers reviewed studies from the past 10 years about how artificial intelligence and connected care technologies can help patients with rare diseases, especially lysosomal storage disorders (LSDs)—conditions where the body can't break down certain substances properly. The review found that while these digital health tools show promise for helping doctors diagnose and manage these complex diseases, there are still big gaps in the research and not enough real-world examples of these technologies being used in patient care.
Artificial Intelligence, Connected Care, and Enabling Digital Health Technologies in Rare Diseases With a Focus on Lysosomal Storage Disorders: Scoping Review. Abstract: Rare diseases affect more than 300 million people globally, and only about 5% have approved therapies. Lysosomal storage disorders (LSDs) exemplify the diagnostic and long-term care complexity typical of rare diseases, and digital health technologies (DHTs), especially artificial intelligence (AI) and connected care (CC), are emerging tools to support LSD management. We aimed to map and synthesize peer-reviewed and gray literature from the past decade on DHTs relevant for LSD care, with a primary analytic focus on AI-enabled and CC solutions and a contextual mapping of other enabling DHTs. Evidence distribution was charted by population, care-journey phase, and outcome domains to identify gaps, methodological limitations, and timely priorities relevant for research, clinical practice imple Authors: Spreafico et al. Journal: Journal of medical Internet research MeSH: Humans, Artificial Intelligence, Rare Diseases, Lysosomal Storage Diseases, Biomedical Technology, Digital Technology, Digital Health