Current Data Collection Efforts in Neuromuscular Disease Research: A Scoping Review

Neuromuscular diseases (NMDs) are rare, progressive, and clinically heterogeneous conditions that pose major challenges for research and data collection. High-quality, interoperable data are essential to advance understanding and support clinical trials, yet current practices remain fragmented. This scoping review, conducted in accordance with PRISMA-ScR guidelines, examines how data are collected and shared in NMD research, with a focus on digital platforms. Searches in Ovid MEDLINE ALL and Ovid Embase identified 4,249 records, of which 110 studies met inclusion criteria. These studies described diverse registries and databases, ranging from disease-specific initiatives to broader NMD efforts. Digital infrastructures included Electronic Data Capture (EDC) systems, online portals, and platforms integrating wearable devices and standardized measures. Such tools offer potential benefits in scalability, accessibility, and real-time monitoring compared with traditional methods. However, persistent issues with data quality, standardization, representativeness, governance, and sustainability limit their impact. Overall, digital platforms are increasingly adopted but lack consistent frameworks for implementation. Future work will expand the literature synthesis and incorporate expert interviews to explore how digital platforms can enhance NMD research and care.