15th July 2020

Background 

In October 2019, we announced a project with the US charity PPMD to create a set of agreed and validated Patient and Caregiver Reported Outcomes (PROs) measures for DMD for use in Europe and the USA.

This project, with Dr Chad Heatwole at the University of Rochester, New York, is creating assessment tools for use in clinical trials to systematically measure small but clinically relevant changes in patient disease burden overtime.  

Our aim is to develop a set of globally applicable, highly sensitive, comprehensive and fully validated patient and caregiver reported outcome measures for Duchenne drug development. This will provide a more patient and caregiver focused evaluation of the effects of Duchenne treatments in clinical trials.

These tools will ultimately be used to help support DMD treatment development through the FDA, EMA, and pharmaceutical partners. For more information about the project, read our announcement here.

Update on project

Dr Heatwole, and his team at University of Rochester NY, have now completed interviews with 15 caregivers of children and young adults with DMD in the US. From these interviews, they have analysed over 1600 direct quotes and identified over 500 potential symptoms of importance to children with DMD.

Research is underway to conduct a large cross-sectional study of caregivers of DMD patients to further identify the DMD symptoms that are most common and important to patients and develop instruments capable of measuring these symptoms overtime in the context of a clinical trial.

Once these instruments are completed, we will work with Dr Heatwole and his research team to translate and validate these tools for use in UK/European clinical trials. Working with local patients and families we will ensure the usability and relevance of these tools for the global DMD community.

We would like to thank our charity partners in this project, PPMD, and each of our charity partners and family funds who have helped fund this key piece of research: Joining Jack, Archie's March, Help Harry, Lifting Louis and Team Felix. 

NOTES FOR EDITORS

What is Duchenne Muscular Dystrophy?

Duchenne muscular dystrophy (DMD) is the most common fatal genetic disease diagnosed in childhood. Children born with DMD cannot produce the protein dystrophin which is vital for muscle strength and function. Muscle weakness starts in early childhood. Many use a wheelchair by around the age of 12. As deterioration continues it leads to paralysis and early death, often in their 20s. It almost exclusively affects boys. There is no treatment or cure. In the UK there are around 2,500 boys affected and around 300, 000 worldwide. It is classified as a rare disease.

Who are Duchenne UK?

Duchenne UK has one clear aim – to end Duchenne. We are the largest funder of Duchenne research in the UK. We connect leading researchers with industry, governing bodies and families to challenge every stage of drug development. Together, we will find treatments and a cure for this generation of patients with Duchenne.

Our president is HRH The Duchess of Cornwall. Our patrons include the broadcasters Krishnan Guru-Murthy and Mary Nightingale, and the sports stars Owen Farrell, Kris Radlinski and Andy Farrell. 

We need your help, because we need to keep funding promising new research.

How to donate?

Duchenne UK is entirely reliant on donations to fund research for treatments and a cure to DMD. This can be done via:

• Direct Debit – Duchenne Direct
• Individual Donation – Donate
• If you are a family or friend affected by DMD you can set up your own fund with Duchenne UK – Family and Friend Funds
• Take part in one of our fundraising events – Events
• Text DUCHENNE to 70085 to donate £5. This costs £5 plus a std rate msg.

For more information visit www.duchenneuk.org