A Prospective, Longitudinal and Decentralised Study Investigating the Motor Development of Patients With Spinal Muscular Atrophy Identified by Newborn Screening Age 4 Years and Below: Active-NBS UK

What this Trial Is About

This research aims to evaluate muscle development in young children diagnosed with spinal muscular atrophy (SMA) at birth. The study focuses on tracking motor progress in patients identified early through newborn screening or family history, including those treated with disease-modifying therapies and those untreated but with different genetic markers. The goal is to understand when motor development differs from typical children and to help identify the best timing for future treatments to support muscle health. Participants include children with SMA aged from under 4 months up to 4 years, as well as typically developing children under 4 years serving as controls. The study uses wearable devices, called Syde and Motor Assessment of an Infant in a Jumpsuit (MAIJU), to collect movement data remotely without extra hospital visits. These devices are used regularly throughout the study period, which can last up to 30 months. Participants will be monitored closely over this time with frequent assessments of motor function using the wearable technologies at specified intervals. Data collection includes monthly and quarterly measurements to validate tools for tracking motor development. The study is conducted internationally with data managed by the University of Oxford, aiming to establish normal and delayed motor patterns in this young population for future clinical use.

An International Federated Model for Wearable-derived Remote Longitudinal Motor Monitoring in Young Children With Spinal Muscular Atrophy Compared With Healthy Controls: Active-NBS Study (UK)