DMD research

Decentralised study to validate new home-based video assessment of DMD

On World Duchenne Awareness Day, Duchenne UK and Aparito announce a new study to help validate a new approach, the DMDhome digital platform, to testing drugs in clinical trials.

The DMDhome platform is the result of a successful collaboration between Duchenne UK and Aparito which uses video capture and computer vision analysis to measure limb function in Duchenne muscular dystrophy (DMD). The study will aim to validate this new approach for use in clinical trials and potentially in the approval of new medicines for DMD.

Assessing upper and lower limb function in DMD

Run by health technology company Aparito using its Aparito Atom5 TM software platform and co-funded by Duchenne UK and Joining Jack, the study will focus on assessing upper and lower limb function in DMD, particularly in the transfer phase which is the transition from the ambulant (walking) to non-ambulant (non-walking) stage.

The study will be fully decentralised which means that those taking part can do so in their home as opposed to having to travel to a clinical site.

DMDhome – a new electronic clinical outcome assessment

DMDhome was developed following Duchenne UK being chosen to join Aparito’s Patient Group Accelerator Programme in 2020 with the intention of devising a patient centred electronic clinical outcome assessment (eCOA), which was able to capture changes in functional ability and their impact on meaningful daily-life activities.

The aim of the video capture and computer vision assessment was to identify disease features specific to DMD and the best way to capture and measure them.

This initial work found that the DMDhome platform is a viable way to give and record instructions for motor tasks to participants via video, and to collect the results that participants report, including quality of life data capture using the DMD Quality of Life Measure (DMD QoL).

The proof of concept data was published in 2022.

Aims of DMD validation study

A rigorous clinical validation approach to test DMDhome will be rolled-out in a natural history study (a study that tracks the course of a disease over time) to assess the clinical significance and reliability of new electronic clinical outcome assessments (eCOAs) compared to the traditional assessments currently used. As in the previous study, quality of life data from participants and their families will also be captured, using the DMD QoL.

It is expected that the study will lead to a comprehensive data set to support the use of DMDhome video assessments as digital endpoints in DMD clinical trials to assess both disease progression and potential drug benefit, and ultimately, in time, support its qualification as a eCOAs by medicines regulators.

Importance of study

Emphasising the importance of this work and its significance for people with DMD and their families, Alessandra Gaeta, Director of Research at Duchenne UK, said:

“The DMD ‘transfer stage’, which sees the transition from the ambulant to the non-ambulant stage of the disease, involves a huge change in quality of life for people living with the condition and their carers. Despite this, there is no validated assessment in the clinic yet that captures this stage accurately and consistently. That’s why, once validated, DMDhome has the potential to become an important tool in the toolkit to assess and measure changes in motor function at this stage, supporting the understanding of impact of new treatments on the disease and on quality of life.”

The study has been designed by Aparito in collaboration with the University of Oxford. Laurent Servais, Professor of Paediatric Neuromuscular Diseases at the MDUK Oxford Neuromuscular Centre, who is the Principal Investigator, outlines its aims:

“It is very exciting to take part in new developments in the field of digital outcomes. We need more granularity when we assess our patients - in order to build shorter and more efficient clinical trials. I am very happy to see the focus on a population that we neglect too often in outcome development and thus in clinical trial - the population of patients in transition.”

Dr Elisa Ferrer-Mallol from Aparito said that the study would be significant, because:

“This study represents the consolidation of the partnership between Aparito and Duchenne UK and a great achievement for Aparito’s Patient Group Accelerator Programme, which supports the co-creation process of new eCOAs and digital endpoints with patients. Validating DMDhome will be a major step towards the acceptance and use of patient-centric digital outcome measures in rare disease medicine development.”

Recruitment for DMD Home validation study

The study will open recruitment of eligible participants over the next few months. This will be announced via the DMD Hub.

Published on 7 September 2023

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