Every year, 100 newborn boys in the UK inherit Duchenne muscular dystrophy (DMD), a condition that progressively destroys their muscles and cuts their lives short by early adulthood. The problem is that promising new drugs cannot be tested in the youngest patients—those under four—because no reliable way exists to measure whether the drugs are working in toddlers. This study aims to fix that. Researchers will give 30 boys with DMD and 30 typically developing boys, aged one to three, a watch-like ankle device to wear at home for three separate month-long periods. The device continuously tracks how fast they walk, producing a metric called stride velocity 95th centile (SV95C). If SV95C proves accurate and sensitive to change over six months, it could become the standard yardstick for clinical trials in very young children. If successful, this work would remove a major bottleneck in DMD drug development. Pharmaceutical companies could test therapies earlier, before irreversible muscle damage sets in, potentially transforming outcomes for these children. It would also make trials less burdensome—families would not need to travel to unfamiliar clinics for assessments. The same remote monitoring approach could eventually streamline routine NHS paediatric neuromuscular care.
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Background Duchenne muscular dystrophy (DMD) is a rare, life-limiting neuromuscular disease which affects 100 newborn boys every year. They cannot produce functional dystrophin, an essential muscle protein. This causes progressive muscle degeneration, weakness, and disability. Patients do not survive beyond early adulthood. Steroids and multidisciplinary care can only delay disease progression. Until recently, clinical trials of promising therapies have mostly included boys over 5 years old. However, treating younger pre-symptomatic patients, before irreversible muscle damage has occurred, could maximise treatment effects and transform outcomes. Therefore, there is increasing pressure from patient groups, academics and clinicians to test treatments in younger patients. The major barrier to progress is the lack of age-appropriate outcome measures. Tests of motor function validated in older children require attention, comprehension, cooperation and maximal effort in an unfamiliar testing environment. Fortunately, wearable technology can be used to continuously monitor a child s gait in their own environment. Stride velocity 95th centile (SV95C) can be calculated and reflects the child s maximum ambulatory ability. It is highly reliable, sensitive, and is used as a primary outcome measure in trials in children over four. Aims and Objectives Given the urgent need to test drugs in younger patients, the TODDLER study aims to validate this remote digital functional outcome measure (SV95C) in ambulant boys with DMD under the age of four. We will determine whether SV95C is acceptable to patients and families, reliable, discriminative, correlated with other functional measures and sensitive to change over six months. Methods This is a fully decentralised remote longitudinal observational cohort study. We will recruit 30 boys with DMD and 30 boys with normal neurodevelopment aged 1-3 across the UK. Following eligibility assessment and consent, children will receive watch-like ankle devices to wear for three 28-day periods over six months. Data will be continuously recorded and automatically uploaded. At months 1 and 6, a physiotherapist will travel to DMD participants homes to perform a neurodevelopmental assessment and North Star Ambulatory Assessment, a standard DMD motor function test validated in older children. To further investigate the reliability of remote testing, this test will also be performed online within 2 weeks of the home visit (randomised order). The study will be delivered over 2.5 years, including 14 months of recruitment. Dissemination We designed the study with parents of children with DMD. We will work with parent representatives and Duchenne UK to develop study materials, hold workshops, and optimise recruitment and communication. Results will be widely disseminated through publications, academic and patient conferences, press releases, and social media. Anticipated Impact The study will advance our understanding of the natural history of DMD. It will directly address a significant barrier to progress in the treatment of patients with DMD by validating an outcome measure with which we can test therapies in younger children. Remote assessments have the potential to make DMD therapeutic clinical trials more inclusive, more efficient, and less burdensome for patients and families. Future adoption of such assessments in clinical practice could increase paediatric neuromuscular service efficiency and accessibility.
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