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.

Run by health technology company Aparito using the Atom5™ clinical trial 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

Laurent Servais, Professor of Paediatric Neuromuscular Diseases at the MDUK Oxford Neuromuscular Centre

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.

Dr Elisa Ferrer Mallol, Patient Engagement Manager at Aparito

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.

Facts and figures about DMD

What is DMD?
DMD is a genetic disease that is typically diagnosed in childhood between the age of three and six. It causes muscle weakness and wasting. It eventually affects all the muscles in the body, including the heart and lungs.
What causes DMD?

It is caused by a fault, known as a mutation, on the dystrophin gene. Dystrophin is a protein that protects muscles; without it, muscles are easily damaged, and their strength and function is weakened.
DMD is the most common and severe form of muscular dystrophy.DMD almost always affects boys and can affect any ethnicity. There are 2,500 people in the UK living with DMD.

There is currently no cure for Duchenne, but there are treatments and therapies that can slow down DMD progression and improve quality of life.
Current assessments 
Routine care and clinical trials frequently use the following clinical outcome assessment to evaluate disease progression: the 6MWT (six-minute walk test), NSAA (North Star Ambulatory Assessment) and PUL (Performance of Upper Limb scale).

About Aparito
Aparito’s mission is to digitize clinical trials and accelerate drug development for patients with life-limiting diseases by supporting patient-centric clinical trials with innovative treatments. Clinical trials can be conducted within patients’ homes by leveraging our Atom5™ platform incorporating disease-specific smartphone apps, video assessments and wearable technology to deliver digital clinical trials using novel eCOA to generate continuous real-world data. Aparito’s patient-generated data platform is disease-agnostic and scalable, ready for rapid deployment in global rare disease studies.

Aparito logo

About Duchenne UK

Duchenne UK is a charity that was set up in 2012 by Emily Reuben and Alex Johnson following both of their sons being diagnosed with DMD. They set up Duchenne UK to tackle some of the big challenges in drug development in their search to accelerate the development of treatments. In 11 years, Duchenne UK has raised more than £20 million and used this money to:   

  • Fund clinical trials of medicines that are now showing promise for DMD 
  • Set up DMD Care UK, a national care programme for patients with DMD to stop patients with DMD from dying too young because they were not getting the right care. The programme establishes best practice across all the disciplines involved in DMD care and works to ensure all medical professionals and parents know precisely what treatment children and adults with DMD need. 
  • Create a DMD medical research hub with hospital sites across the country, which has led to more trials for DMD treatments than ever before.  
  • Develop innovative technologies, the SMART Suit and Dream Chair, to support the independence of people with DMD.  

You can find out more about the work of Duchenne UK at duchenneuk.org