Access to treatments

Duchenne UK and PPMD fund $200,000 to develop an accepted set of Patient Reported Outcomes

2nd October 2019

  • Duchenne UK and PPMD are pleased to announce the joint funding of a project to create a set of agreed and validated Patient Reported Outcomes (PROs) for use in Europe and the USA.
  • The $200,000 grant from Duchenne UK and PPMD is awarded to Chad Heatwole at the University of Rochester, New York.

This project aims to create an additional assessment tool for use in clinical trials to measure and report the small day-to-day benefits a drug might be having on patients with Duchenne muscular dystrophy (Duchenne) and their caregivers. 

Currently it is not possible to record whether, for example, patients on a trial find it easier to get in and out of their car, get themselves dressed or feed themselves.

Since disease progression in Duchenne is complex, there is a need for highly sensitive, disease-specific outcome measures to be developed to identify small, yet significant, treatment benefits. The symptoms of Duchenne are varied, and while very familiar to the patients themselves, have never have been studied to determine how truly common they are and what is most meaningful from the patient’s point of view.

This project aims to develop a set of globally agreed, 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 effect of Duchenne treatments in clinical trials.

Dr. Heatwole will conduct a series of interviews with patients from Europe and the USA to identify symptoms that are important, and using statistical analysis methods, develop a comprehensive set of patient reported outcomes according to FDA and EMA guidelines. Dr. Heatwole and his team will draw from their experience developing Health Indices for close to 30 other diseases. This work will complement awards granted to Dr. Heatwole by other foundations.

We hope that, if successful, this PRO will support drug development by providing novel and sensitive patient and caregiver information that better facilitates clinical trial assessment and subsequent drug approval.

Abby Bronson, PPMD’s SVP of Research Strategy said:

We believe that incorporating the voice of the patient through PROs is an extremely powerful tool to support and accelerate drug development. We are grateful to be working with the Duchenne UK team to develop tools that ensure patients are heard.” 

Emily Crossley, Co-founder, Duchenne UK, said:

“Duchenne UK is committed to accelerating the drug development process in every possible way we can. We are very pleased to be collaborating with our friends at PPMD on this project which we hope will have a global impact on ensuring we can capture all the benefits a drug is having.”

We would like to thank our charity partner and family funds for supporting this project: Joining Jack, Archie's March, Help Harry, Lifting Louis and Team Felix 



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 is a lean, ambitious and highly focused charity with a clear vision: to fund and accelerate treatments and a cure for Duchenne muscular dystrophy.

We are investing millions of pounds in research right now to bring treatments and a cure to help this generation. Duchenne UK is the largest funder of DMD research in the UK. We are also committed to accelerating the pace of research. 90p in every £1 raised is committed to research.

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


About Parent Project Muscular Dystrophy

Duchenne is a fatal genetic disorder that slowly robs people of their muscle strength. Parent Project Muscular Dystrophy (PPMD) is the largest most comprehensive nonprofit organization in the United States focused on finding a cure for Duchenne—our mission is to end Duchenne.

We demand optimal care standards and strive to ensure every family has access to expert healthcare providers, cutting edge treatments, and a community of support. We invest deeply in treatments for this generation of Duchenne patients and in research that will benefit future generations. Our advocacy efforts have secured hundreds of millions of dollars in funding and won two FDA approvals.

Everything we do—and everything we have done since our founding in 1994—helps those with Duchenne live longer, stronger lives. We will not rest until we end Duchenne for every single person affected by the disease. Join our fight against Duchenne at EndDuchenne.org and follow PPMD on Facebook, Twitter, and YouTube.

Published on 10 February 2019

Share this article