We are delighted that the ground-breaking KineDMD activity monitoring study we funded has been published in the prestigious scientific journal Nature Medicine. As the publication succinctly states: “Artificial intelligence has the potential to revolutionise healthcare.”

The Duchenne Research Fund is enormously proud to have funded and helped drive this vision to revolutionise drug development for Duchenne and beyond.

The study has been covered by the BBC: ‘Motion capture tech from Avatar films used in disease research’ – and also featured on BBC Breakfast on 22 January.

Also Faisal on BBC

Valeria Ricotti on BBC

The 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. 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 predictions of 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.

The son of the DRF’s co-founders Gavriel Rosenfeld was a participant in the study, while his brother Joshua participated as a healthy control subject (pictured below).

One of the major challenges in Duchenne drug development is linking measurable clinical trial endpoints with actual quality of life benefits. Each boy declines in a unique way, which can be hard to measure through classic functional tests.

“Using wearable motion tracking is a game changer,” explains the Director of the NIHR Great Ormond Street Hospital Biomedical Research Centre Professor Thomas Voit, who oversaw patient assessment in the study.

“We have long known that current assessments in drug trials such as the ‘six-minute-walk-test’ are inadequate because they are motivation- and collaboration-dependent, but also dependent on how patients feel on the day of examination.

“This inadequacy entails two risks: a drug that might have helped can fail; and a drug that may not bring benefit can score wrongly-encouraging results. To overcome both risks large patient cohorts are necessary, increasing costs and slowing down drug development. The new technology we have developed with support from the DRF can change this predicament: it is objective, quantifiable, motivation-independent, and provides results faster and on smaller patient cohorts. It can be a game changer for drug development for Duchenne and other diseases affecting motor behaviour.”

Dr Valeria Ricotti, Honorary Clinical Lecturer at UCL added: “I am very excited by the results of this new technology as it will significantly impact drug development for Duchenne. DRF’s involvement in this project has enabled us to develop disease-specific AI-derived biomarkers that will expedite the development and approval of novel therapies for the Duchenne community.”

Imperial’s Dr Aldo Faisal explained: “This AI technology will help revolutionise the way we assess and monitor the progression of Duchenne. It makes it easier on the children and paves the way to enable clinical assessments in the home. The precision of the technology in detecting disease progression can thereby make treatment trials shorter and cheaper, hopefully enabling more treatments to be developed faster. Thanks to the vision of the Duchenne Research Fund in supporting us, we were able to develop this breakthrough technology to help people with Duchenne.”

Dr Sarah Shelley, medical trustee at the Duchenne Research Fund said: “The need to accurately measure statistically significant improvement and understand disease progression has never been more important. The Duchenne Research Fund is proud to have supported the teams at GOSH and Imperial to progress our vision of helping create more accurate clinical trials for all ages and phases of Duchenne muscular dystrophy.”

Read the publication in Nature Medicine.

Great Ormond Street researchers Dr Valeria Ricotti, Prof Thomas Voit and physiotherapist Vic Selby explain more about the study.

Read the BBC’s coverage of the project.

Learn more about the DRF’s funding of the KineDMD project.

Background:

The children were assessed by physiotherapist Victoria Selby at the National Institute for Health Research (NIHR) Clinical Research Facility at GOSH, overseen by Professor Thomas Voit and Dr Valeria Ricotti, who worked with Dr Aldo Faisal and his team at the Departments of Computing and Bioengineering at Imperial College London.

Images courtesy of T Voit/V Ricotti