KINEDMD study: developing an activity monitoring biomarker

Using novel algorithms to chart daily activities of ambulant and non-ambulant boys

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.

Biomarker research

£320,000 in 2017-19

£210,000 in 2019-22

London, UK

Learn more about this ground-breaking technology

The development and approval of disease-modifying treatments is often slowed down by the fact that it takes a long time to determine if a treatment works well or not for a group of patients. Many gold-standard methods for tracking disease progression rely on judgements ‘by eye’ in the clinic. This is especially true in ‘slow’ degenerative disorders such as Duchenne. We have now the unique opportunity to translate our artificial intelligence technology to the monitoring of Duchenne progression. We will give Duchenne boys wearable sensors (in the form of Apple watches), which will capture their arm and leg movement where it matters most to them: at home and in school. This movement data is collected discreetly, 24/7, and will be analysed by our artificial intelligence technology. This is a bit like having a personal neurologist looking after you day and night, day after day, who can notice even subtle changes in movement ability. We hope that these novel approaches will significantly improve the accuracy and reduce the time it takes to detect disease progression, potentially reducing the duration of future clinical trials and the cost of treatment development. We are delighted to have a forward looking clinical partner in Great Ormond Street’s Clinical Research Facility, with whom we will be working closely.

Click here to learn more about Dr Faisal’s work

Dr Aldo Faisal

Associate Professor in Neurotechnology jointly at the Department of Bioengineering and the Department of Computing at Imperial College London

Why are we supporting this project?

Despite the significant acceleration of therapeutic developments in the field of Duchenne in the last few years, a number of issues remain to be solved and require dedicated support and attention. We need better and more reliable outcome measures for boys with Duchenne, which is an area that has been insufficiently explored in the field so far. Characterisation of better outcome measures will enable the field to monitor disease progression and benefits of any therapeutic strategies in a more coherent and reliable manner. The newly funded projects supported by the Duchenne Research Fund will address those shortcomings and I am confident that the successful completion of those will make seminal contributions to the field of Duchenne.
Dr Ronald Cohn

Head of the DRF Scientific Advisory Board; Chair, Department of Paediatrics, University of Toronto; President and CEO, The Hospital for Sick Children, Toronto

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