Wrexham, UK — February 12, 2024 09:00 GMT

DMDhome, an innovative platform designed to revolutionise the assessment of Duchenne muscular dystrophy (DMD), is now part of a groundbreaking decentralised study to validate its efficacy.

Led by Prof. Laurent Servais and Charlotte Lillien, MPT, of the Specialised Translational Research Oxford Neuromuscular Group at the University of Oxford, this pioneering study represents a significant step forward in addressing the urgent need for reliable and accessible assessments in DMD, a devastating genetic muscle-wasting disease predominantly affecting young boys.

DMDhome offers a promising solution to the challenges posed by DMD assessment. By leveraging video capture and computer vision analysis, the platform enables remote monitoring of upper and lower limb function with a focus on tasks relevant to the transfer phase of the disease. This approach not only enhances the accuracy and accessibility of assessments but also provides valuable insights into disease progression and treatment efficacy.

The primary objective of the study is to monitor changes in upper and lower limb assessments over 24 months, compared with conventional assessments, with secondary objectives focusing on validating new DMDhome electronic clinical outcome assessments (eCOAs). These eCOAs will be evaluated for their test-retest reliability, sensitivity to change, and minimally clinically important differences, providing valuable insights into disease progression and treatment response.

The decentralised nature of the study allows participants to perform assessments in the comfort of their own homes, eliminating the need for frequent clinic visits and reducing the burden on patients and caregivers. Through the use of Aparito’s DMDhome app built on the Atom5™ platform, participants can easily record and upload video tasks, complete patient-reported outcome measures (PROMs), and undergo remote screening and eligibility assessments.

The study aims to enrol a diverse cohort of participants, including 28 patients in the late ambulatory stage of DMD, 16 non-ambulant patients, and 15 age- and gender-matched healthy controls. These participants will undergo a series of upper and lower limb tasks, which will be compared against established assessments such as the North Star Ambulatory Assessment (NSAA) and the Performance of the Upper Limb (PUL2.0).

The Transfer Stage is such an important time for people with Duchenne muscular dystrophy and their families. Their life changes significantly during it. It is therefore crucial that the impact of treatments during the Transfer Stage is fully understood.

DMDhome’s electronic clinical outcome assessment in a home setting will give valuable real-world insight to help with that understanding. We are very pleased that the validation study of DMDhome has now opened to recruitment and excited to see this progress to generate important data to support the wider use of this assessment in drug development.

Dr Alessandra Gaeta, Director of Research and Development at Duchenne UK

We are extremely excited to launch the recruitment for the DMDhome study, which results from longstanding co-creation efforts between Aparito and Duchenne UK to develop innovative, objective digital outcome assessments for the Duchenne community, particularly the patients in transition.

We hope that the results of this study will support the use of DMDhome eCOAs in future clinical trials to measure motor function during the transfer stage.

Dr Elisa Ferrer Mallol, Head of Patient-led eCOAs at Aparito

The study is now live, with initial participants already enrolled. Prospective participants can join the study or request more information at DMDhome or by contacting dmdhome @ aparito.com.

Moving forward, the team behind DMDhome intends to establish its video tasks as validated eCOAs, offering valuable insights into disease progression, particularly as patients transition to the non-ambulant stage of DMD. These efforts align with broader objectives to generate reliable data for healthcare decision-making and drive advancements in DMD treatment and care.

About Aparito

Aparito’s mission is to digitise 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.

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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 12 years, Duchenne UK has raised more than £27 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 to support the independence of people with DMD.  

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

About MDUK Oxford Neuromuscular Centre

The MDUK Oxford Neuromuscular Centre is a partnership between Muscular Dystrophy UK and the University of Oxford. It was established in January 2019 and aims to drive forward the development of novel experimental therapies and increase national clinical trial capacity in neuromuscular diseases.

Learn more about the work of MDUK Oxford Neuromuscular Centre at onmc.ox.ac.uk

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