Feasibility, validation and application of digital tools for remote monitoring in neuromuscular diseases: the DT4RD protocol.

Abstract

Rare diseases (RDs) affect millions of people worldwide and present major challenges for research due to small patient populations, limited longitudinal data and the difficulty of capturing real-world disease manifestations. Digital technologies provide new opportunities to collect multimodal data directly from patients and their environments. In particular, video recordings, wearable-based physical activity monitoring and digital questionnaires can generate detailed, longitudinal information on symptoms, functional abilities and daily-life impact. The digital tools for rare disorders (DT4RD) protocol aims to develop and evaluate a digital framework that integrates these technologies to support data collection and analysis in RD research. DT4RD will implement a technology-driven platform designed to collect and analyse multimodal patient-generated data. The protocol includes three main components: (1) structured video capture to document clinical signs and functional performance, enabling remote assessment and computational analysis; (2) continuous physical activity monitoring using wearable sensors to quantify mobility and daily activity patterns and (3) digital questionnaires to capture patient-reported outcomes and contextual information. These data streams will be integrated within a dedicated digital infrastructure supporting secure data collection, storage and analysis. This pilot study will be conducted with participants affected by rare neuromuscular diseases to evaluate the feasibility, usability and analytical potential of the platform as well as its ability to generate clinically relevant insights from multimodal digital data anchored to regular hospital visits. The study was approved in France by the <i>Comité de Protection des Personnes Sud-Est III</i> on 21 February 2023 (National Number ID-RCB 2022-A02749-34). UK approval was granted by the Health Research Authority and Health and Care Research Wales on 4 March 2024 (IRAS project ID 331474). The protocol has been registered on ClinicalTrials.gov under the number NCT05798325. All participants will be provided with verbal and written information about the study and its procedures before providing written informed consent. Data will be anonymised and handled in accordance with GDPR, French CNIL regulations (MR-001) and applicable national data-protection requirements. Results will be communicated through peer-reviewed publications, conference presentations and lay reports. NCT05798325.