Rare Disease Groups Unite For Apps and Research

Rare Disease Day – February 28th 

To begin with, rare disease groups have been quick to realise that digital health offers a direct way to reach, support and unite scattered patients who face challenges in accessing diagnosis and treatment. They have also been pragmatic and innovative about how they develop and apply these technologies.

Recently, one rare disease group, Duchenne UK has:

  • Firstly, united with other patient groups to develop an `Accident Emergency’ app for patients with Duchenne Muscular Dystrophy
  • Secondly, brought together major pharma companies to take a shared approach to Health Technology Assessments for new potential treatments
  • Thirdly, embarked on a wearables development project.
Pooling patient group expertise 

Following on, rare disease patient groups can be quite adept at working together to develop resources. One example is an app which gives people with Duchenne and their families and carers a way of taking all their medical information with them wherever they go.

This app and its accompanying website aims to:

  • enable medical staff in Accident and Emergency Departments to access information immediately relevant to patients with Duchenne Muscular Dystrophy
  • provide the patient’s most up to date clinical information to A&E staff, recorded and updated by patients and their carers
  • help clinicians understand the specific needs of persons with Duchenne when formulating a response to an A & E admission.

Furthermore, the app, Duchenne A&E Pack was a collaboration between a team of patient groups including Duchenne UK and Action Duchenne, Alex’s Wish, DMD Pathfinders, Duchenne Now, The Duchenne Research Fund, Harrison’s Fund, PPMD and MDUK.

Uniting pharmacos for HTAs

Duchenne UK which contributed to the app, also leads Project HERCULES, a collaboration with seven pharmaceutical companies developing medicines to treat Duchenne Muscular Dystrophy, DMD

Duchenne UK is investing £200,000 in the initial stages of the project, which will help companies to work together to develop a shared model that will focus on developing common tools and practices.

The aim is to:

  • generate, align and share disease-level data for Health Technology Assessments (HTA) for medicines for Duchenne Muscular Dystrophy (DMD)
  • build the evidence base for new therapies required by health authorities, such as the UK’s National Institute of Health and Care Excellence
  • increase the chances of patients with DMD of accessing innovative treatments.

This united approach could bring mutual benefits for patients and industry:

“With HERCULES, we have a patient organisation taking the lead to solve a problem that the industry has talked about for a long time, but where limited progress has been made to date. HERCULES gives us the opportunity to develop a much more robust evidence base for Duchenne muscular dystrophy.” – Fleur Chandler, Future Pipeline Head, VEO at GSK R&D and a member of Duchenne UK’s Patient Advisory Board

Targeted research in wearables

Duchenne UK is also supporting the development of aparito, which can combine a wearable device with an app, to:

  • One, monitor patient activity in real time and real life, outside of the hospital clinic
  • Two, capture information relevant to the impact that Duchenne Muscular Dystrophy has on patients’ lives
  • Three, record specific events that are important for Duchenne patients, such as falls or near falls or missed school days
  • Fourth, record medication taken, prescribed or bought over the counter, and visits to health professionals
  • And finally, record Patient Reported Outcomes (PROs) in the form of short questionnaires.

The patient group sees this research project as part of its wider strategy for involvement in research at “every stage of the clinical development pipeline:

“Duchenne UK is now planning a small feasibility study that will recruit around 10 DMD patients via two UK centres to help us develop aparito for DMD. The data generated from our study will be sufficient to produce a publication that will outline the findings, and make future recommendations about best practice use of mHealth and wearable devices in DMD.” – Duchenne UK


Find out more about Rare Disease Day…

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Find out more about the Duchenne Accident and Emergency app on the myhealthapps.net…

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Download the Duchenne A&E pack app…

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Find out more about Duchenne UK’s initiative to enable pharma collaboration for Health Technology Assessments…

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Find out more about Duchenne UK’s wearables research project…

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