making muscle wasting history

By Kate Bushby
Action Research, Professor of Neuromuscular Genetics
Newcastle University, UK

The standard of care received by Duchenne patients in different countries and within countries can be something of a lottery dependent upon where they live. Apart from being very unfair to patients, this is also having an adverse effect on finding effective treatments for the condition. Part of the problem in starting trials for treatments for Duchenne is that the baseline for care of Duchenne patients is not the same from place to place. In some cases the differences in care from different clinics could even mask the effect of a drug going into trial.

Typically drugs and treatments in common conditions are evaluated in clinical trials, and when a number of trials have been done they can be analysed together leading to clear guidance being available to doctors. However, assessing treatments for a condition like Duchenne is not so easy because the condition is relatively rare, not very many trials have been performed in DMD in the past, and there are many facets of the condition that need to be addressed, requiring many different specialist skill sets. Therefore the process of generating a comprehensive set of guidelines required for the care of Duchenne patients has been complex. By producing a definitive Standards of Care document we are aiming to create a level playing field for patients and families, and raise standards across the board. The Standards of Care document will provide a tool with which to lobby health care providers and it will provide a basis for the introduction of trials and new treatments.

The TREAT-NMD network of excellence has been funded by the EU to make the pathway to trials in muscle diseases like Duchenne easier and faster and part of that process is getting care standards better agreed across the board. TREAT-NMD is working with the Centres of Disease Control (CDC) in Atlanta, USA, on an international Care Considerations project to generate a set of Standards of Care for Duchenne. CDC was mandated by the US Congress to do this and received funding for this project from the US government.

CDC has pulled together a team of over 80 experts from all over the world who have been working to agree a consensus for the best treatment practices for Duchenne. The process has been running for three years and is now approaching a conclusion. The panel of experts was recruited from as broad a range of disciplines and countries as possible, and they gathered evidence from literature where it already exists, as well as using a special methodology called the RAND/UCLA appropriateness method as an unbiased way to build consensus. As you can imagine getting opinions from over 80 people and compiling them has been hard work! The process has been extremely rigorous to ensure that the resulting document carries as much credibility and weight as possible so that it cannot be ignored or sidelined. This document will help to build the case for multi-disciplinary teams, so that for instance, heart and lung specialists, along with others, are included within effective treatment programmes for all Duchenne patients.

The core document is currently in the last stages of preparation and it is hoped and anticipated that it will be ready for publication at the end of February once it has received approval from CDC. The team is already working on how we will disseminate the information in a ‘family friendly’ format and will be working with Action Duchenne and other interested parties to ensure that the information is shared. There will be an announcement on the Action Duchenne website. TREAT-NMD has already published a set of interim guidelines for care for Duchenne in order to put as much information into the public domain as it becomes available. For more details please visit linktext