About Duchenne muscular dystrophy
Around 100 boys are born with DMD each year in the UK. Right now, there are about 2,500 boys and young men living with the condition. DMD is a muscle wasting condition caused by the lack of the protein dystrophin. This lack of dystrophin means muscle fibres break down and are replaced by fatty tissue which causes muscles to gradually weaken.
Progression of the condition can be slowed down by steroids and some boys with a particular genetic change called a nonsense mutation, may benefit from the drug Translarna. Lots of research and many clinical trials have been carried out but there’s currently no cure.
About the NorthStar programme
The NorthStar programme has two parts:
The natural history study
Researchers are monitoring a group of more than 1,500 boys and young men with DMD over time, measuring the progression of their condition and its effect on them. This information is collected by healthcare professionals at clinic appointments. Anonymised data is then made available on request to researchers at universities and the pharmaceutical industry to help speed up new research discoveries, which could ultimately lead to new treatments.
The NorthStar clinical network
This clinical network is made up of consultants, physiotherapists and other healthcare professionals from 23 specialist centres across the UK. Its overall aim is to optimise the care of people with DMD by gaining an agreement on best clinical management, so everyone gets the same assessment and care no matter where they’re treated.
Our investment
Our financial investment includes support for a small team to work with the NorthStar clinical network. The team are responsible for coordinating the activity of the network and making sure data is entered into the network database so it’s available to support clinical trials and studies. There’s also a physiotherapist who updates and develops physiotherapy protocols and training modules.
The committee that oversees the NorthStar programme includes people with DMD and parents of children with the DMD. They help ensure decisions about the programme account for the views of people affected.
“We set up The NorthStar Network nearly 20 years ago to improve standards of care for boys with Duchenne muscular dystrophy across the entire country. Today, the improved standards have helped many boys with DMD extend their lives into adulthood. MDUK support has helped us to establish standardised outcome measures for treatments and therapies, driving faster more effective research. We are proud of how far we have come and excited for the future.”
Professor Francesco Muntoni, Paediatric Neurologist at Great Ormond Street Hospital, and Chief Investigator for NorthStar, and Dr Adnan Manzur, consultant paediatrician at Great Ormond Street Hospital, and co-Principal Investigator for NorthStar
Progress to date
The NorthStar Ambulatory Assessment
One of the most significant achievements from the NorthStar clinical network is the development of the NorthStar Ambulatory Assessment (NSAA). A rating scale which uses 17 tests that only take 10 minutes to complete and assess the abilities of boys with Duchenne not using a wheelchair. The NSAA is now widely used to keep track of the progression of DMD, and as a tool in clinical trials, for example to assess the benefits of treatments.
In 2016 researchers from the NorthStar clinical network published a study using the NSAA to detail the ‘natural history’ of DMD − how the condition normally changes over time. This information has been hugely helpful in designing clinical trials, providing a ‘baseline’ against which researchers can measure changes in the condition.
It could also help to reduce the number of boys recruited to take part in ‘placebo’ parts of clinical trials – where those receiving a treatment are compared to those receiving a placebo (dummy version of the drug being tested). This could make it much quicker for clinical trials to get started and achieve results. Read more about the study here.
Steroids for treating Duchenne
One of the most impressive achievements ever demonstrated at a national level came from research published in 2013 using NorthStar data from the natural history study, which provided detailed information on the benefits and side-effects of glucocorticoid (steroid) treatment in boys with DMD. Showing the real-world benefits of steroid treatments, the study convinced clinics across the country to use steroids to manage the condition. As a result, children with DMD are now walking for around 3.5 years longer than in the previous decade.
Researchers have since used data from the NorthStar natural history study to understand the long-term impact of continuous steroid use. Dr Federica Trucco and colleagues looked at the impact of steroids on heart and lung health. They found that steroids delayed the need for breathing support (like a facemask) and the onset of heart problems.
On the other hand, Dr Shuko Joseph and colleagues have found that glucocorticoids increase the chances of bone fractures, and different glucocorticoids affect that risk by different amounts (original article). Knowing this will lead to improved care for people with DMD to try to counteract the effect of steroids on bone health.
More recently, the NorthStar network has been involved in a study looking at an experimental drug called Vamorolone, which is currently being appraised by NICE to see if it should be available on the NHS to treat DMD.
Mapping Duchenne muscular dystrophy condition progression
Clinicians and parents have known for a long time that every boy with Duchenne is different, and how their condition progresses varies from person to person. Researchers from the NorthStar network have used the data for 395 boys from the natural history study to map out how the condition changes over time. They grouped the changes of these boys into four clusters, depending on the severity of their disease and how rapidly their condition progresses. This information will help doctors to counsel boys with Duchenne and their families about the long-term impact of the condition, and tailor care and support more effectively. It will also help in the design of clinical trials, and make sure that boys with Duchenne of all severities are included.
Expanding the NorthStar programme to adults with Duchenne muscular dystrophy
Improvements in care over the past decade mean people with DMD are living longer. But there are fewer clinical trials available for adults than children living with the condition. To address this, NorthStar has expanded to include the collection of information from adults, to establish best-practice guidelines for care and support and to support future clinical trials. This was initially made possible by our funding for a PhD research co-ordinator who led on the collection of data for adults. In 2022 this funding was renewed to further grow the adult network.
“Thanks to funding from Muscular Dystrophy UK, we have established the Adult NorthStar Network for young men and adults with Duchenne. This will help the monitoring and implementation of optimal standards of care for this group, providing a strong foundation for clinical trial in the future.”
- Professor Ros Quinlivan, University College London Hospital
This has led to the development of the first-ever clinical care guidelines for adults with Duchenne. Improving the standards of care and support for men with the condition will help to improve their life expectancy and quality of life.
The real impact NorthStar is making
As you can see, it has taken a clinical research team right across the UK working together with hundreds of boys and men with DMD and their families to collect natural history data about this condition. The data from all this work has been so instrumental in improving the quality of life for boys and men living with the condition and influencing best practice in care nationally . It is also helping to accelerate the development of treatments, by providing data to improve the design and evaluation of clinical trials.