By Emily Heathward, Policy Officer, AMRC

Published: 29 February 2024

It can take over 5 years for rare disease patients in the UK to get a proper diagnosis, only 5% of rare diseases have approved treatments, and the UK lags behind other countries in providing access to these treatments.

More than 3.5 million people across the UK, 30 million across Europe, and 300 million worldwide are living with one of over 7,000 rare diseases. Around 80% of these diseases are inherited and predominately affect children, 30% of whom will die before their fifth birthday.

These complex, chronic, and disabling conditions exact a great burden on the lives of patients, their families, and carers. They reduce life expectancy and quality of life, with physical and psychological symptoms that seriously impact day-to-day activities, independence, and well-being.

So how do we tackle the unmet needs of the rare disease community? Research. Research shaped and driven by those with experience of the diseases.

Unfortunately, research faces a major challenge: a lack of information on the natural progression of rare diseases. This limits the design of new therapies and clinical trials and impacts the ability of clinicians to monitor the condition. Charities are working hard to bridge this information gap, funding studies such as the NorthStar programme for Duchenne Muscular Dystrophy (DMD), a muscle wasting disease affecting 2,500 people in the UK.

Bridging a gap

Established in partnership with Muscular Dystrophy UK in 2004, the NorthStar programme is the world’s largest natural history study of boys and men with DMD, with a network of clinical healthcare specialists from 23 centres across the UK.

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. It is then anonymised and made available on request to researchers in universities and the pharmaceutical industry to help speed up new research discoveries. 

NorthStar has been hugely successful, having impact on a national level. It demonstrated the real-world benefits of steroid treatments, resulting in their use in the management of the condition and enabling children with DMD to walk for 3.5 years longer than the previous decade.

The programme also led to the development of the ‘NorthStar Ambulatory Assessment’, a simple rating scale which uses 17 tests to assess the abilities of boys with Duchenne not using a wheelchair. It’s now widely used to track the progression of DMD and to help better design clinical trials.

A pivotal moment for NorthStar included the creation of the first ever national Standards of Care for adults with Duchenne. This will help to improve life expectancy and quality of life for those with the condition.

NorthStar continues to be an invaluable resource for improving care, support, and research for DMD patients.

Driving change

Muscular Dystrophy UK is one of many charities that have been leading the way for decades, supporting vital research into rare diseases and accelerating breakthroughs. Just take a look at our new report!

Over the last ten years, 82% (143) of AMRC charities have funded over £2.1 billion in rare disease research. They contribute half of public investment in UK rare disease research, funding across the pipeline from fundamental science to clinical trials.

Driven by patient priorities, they are building capacity in the workforce, developing research resources, improving diagnosis, transforming clinical trials, accelerating access to treatments, and catalysing partnerships across the sector.

There have also been many significant investments beyond the charity sector. Since 2021, the National Institute for Health and Care Research and the Medical Research Council have invested £14 million into the UK Rare Disease Research Platform; LifeArc provided £100 million for rare disease research including £40 million for a network of Translational Rare Disease Centres; and government published the UK Rare Disease Framework, and two Rare Diseases Action Plans. We look forward to seeing what further commitments 2024 will bring.

The charity, public and industry sectors must continue to work together to build, shape, and strengthen the UK’s rare disease research landscape. It is only by combining resources and adopting innovative approaches that we can accelerate the delivery of the diagnostics, treatments and care that rare disease patients deserve.