KINEDMD study: developing an activity monitoring biomarker

The ground-breaking KineDMD project is a collaborative effort between Imperial College London, UCL and Great Ormond Street Hospital. The study involved 21 young people with Duchenne wearing full-body sensors while undergoing hospital visits at GOSH.

In January 2023 the ground-breaking research was published in the prestigious Nature Medicine journal, and featured on the BBC.

The study was also previously featured on ITV’s Little Heroes TV show.

Dr Aldo Faisal and his team at the Departments of Computing and Bioengineering at Imperial College London gathered the data from the sensors and together with the UCL team developed novel algorithms to analyse disease progression based on the boys’ movements.

The sensor data obtained during spontaneous play time and movement enabled not only the correct prediction the results boys would achieve on standard tests such as a “six-minute-walk-test” but beyond that also enabled highly accurate predictions of the individual disease course six months down the line.

A total of 17 age matched healthy boys were also monitored at key points in the year, as controls.

Both ambulant and non-ambulant boys with Duchenne aged 5-18 took part. The study was non-mutation specific, and did not require any muscle biopsies or MRI.

Background:

The DRF funded Dr Aldo Faisal’s team at the Departments of Computing and Bioengineering at Imperial College London to develop a novel biomarker to track the progression of Duchenne muscular dystrophy. Dr Faisal’s expertise is in developing novel algorithms to analyse the data gathered from the sensor devices.

One of the major challenges in Duchenne drug development is linking measureable clinical trial endpoints with actual quality of life benefits. While there is a measurable and predictable decline in function during the course of the disease, each boy declines in a unique way, which can be hard to measure through classic functional tests like the six-minute walk test. This vital research aims to complement or even replace classic clinical endpoints, more sensitively capturing functional changes, and increasing the number of boys and young men eligible for clinical trials.

Children were assessed at the National Institute for Health Research (NIHR) Clinical Research Facility at GOSH by physiotherapist Vic Selby overseen by Professor Thomas Voit and Dr Valeria Ricotti, who worked with Dr Faisal’s team at Imperial College London.