The LifeArc Centre for Acceleration of Rare Disease Trials brings together a consortium of three universities from across the UK. Queen’s University Belfast, Newcastle University, and University of Birmingham are pooling their expertise in a partnership.

Globally, there are more than 300 million people living with rare diseases. However, clinical trials for rare diseases are challenging and can be a major limiting step in getting new treatments to patients. The research can be fragmented, and researchers sometimes lack access to specialist facilities, as well as advice on regulation, trial designs, preclinical regulatory requirements, and translational project management.

This £12M Centre will focus on improving the efficiency of rare disease trials and increasing the number of opportunities for patients to take part. Researchers will develop a UK ‘4 nations’ approach to deliver trials of new treatments using ‘one stop’, patient friendly models. The team will do this by creating a rare disease trial recruitment portal and will design and deliver trials in partnership with patients. This will speed up the delivery of clinical trials for people with rare diseases and enable more rapid approval of new therapies for use in the NHS.

Professor Amy Jayne McKnight from the School of Medicine, Dentistry and Biomedical Sciences at Queen’s, who is co-lead in the project said: “Across Northern Ireland (NI), there are more than 110,000 people living with rare conditions. That is one in every 17 people in our population.  Less than 5% of rare diseases have an approved therapy, so more trials with innovative designs are urgently required. I’m looking forward to sharing expertise with colleagues including Professor Dave Jones and Volker Straub, Newcastle University and Professor Tim Barrett, University of Birmingham, as we establish and develop this crucial rare disease initiative.

“For NI, we are also supported by Health and Social Care Research and Development. This new Centre will establish a collaborative NI rare disease trials hub that will support in building local infrastructure and skills and allow capacity for trial design and delivery. In addition, the Centre will aid in the development of practical tools to support patients and doctors in participating in research, creating opportunities for international research and further investment, whilst ensuring the voices of patients and families remain at the centre of this progress.  Lived experience from patients and their families across NI was crucial in helping shape the design of this Centre to be of maximum benefit.”

Kerry Leeson-Beevers is the parent of a child with the rare genetic condition, Alström Syndrome, which often causes loss of vision and hearing, and can lead to serious life-threatening problems with the heart, liver and kidneys. Kerry, who is also CEO of Alström Syndrome UK, said: “We have no specific treatment for Alström Syndrome and when my son, Kion, was a baby, I was told it could take around 10 years for any treatment to be developed. 20 years later, we are still waiting. People living with rare conditions don’t have the luxury of time and the mainstream way of delivering healthcare and drug development rarely works for people with rare conditions. As a mum and the Chief Executive of Alström Syndrome UK, having a centre that will deliver a coordinated, inclusive and supportive approach to accelerate clinical trials gives me great hope.”

Professor Ian Young, Chief Scientific Advisor to the Department of Health and Director of Research for Health and Social Care, said: “As Chair of the Northern Ireland Rare Diseases Implementation Group (NIRDIG), I very much welcome this announcement which will have enormous benefit for people, and their families, living with a rare condition in NI.

“Improving access to specialist care, diagnosis and treatments, and increasing participation in rare disease research are key priorities for the NI Rare Diseases Action Plan. Today’s announcement will drive forward those actions, harnessing rare disease expertise from across the UK to improve design of translational rare disease research studies, facilitate delivery of clinical trials, build much needed local capacity, and improve access to innovative and specialist rare disease treatments for our patients. I would like to thank Professor McKnight and her colleagues, for their leadership, hard work and commitment in making this exciting opportunity a reality for NI.”

Dr Patricia O’Hare, NI Paediatric Clinical Lead for rare diseases said: “I am delighted with the announcement of this successful funding for rare disease trials in NI.  As a paediatrician involved in clinical trials, I have seen how research can change our ability to treat rare diseases in real time.  Bringing effective treatments to children and adults with a rare disease or condition, in addition to opportunities to participate in research, is at the core of what we are working towards in NI.  The LifeArc centre for acceleration of rare disease trials will demonstrate the benefit of collaborative research and we are excited to be involved in this innovative centre.”

Dr Catriona Crombie, Head of Rare Disease at LifeArc, says: “We’re extremely proud to be launching four new LifeArc Translational Centres for Rare Diseases. Each centre has been awarded funding because it holds real promise for delivering change for people living with rare diseases. These centres also have the potential to create a blueprint for accelerating improvements across other disease areas, including common diseases.”

The LifeArc Centre for Acceleration of Rare Disease Trials, along with the the LifeArc Centre for Rare Respiratory Diseases, LifeArc Centre for Rare Kidney Diseases, and LifeArc Centre for Rare Mitochondrial Diseases, has been awarded a share of nearly £40M over five years from the not-for-profit medical research charity, LifeArc. Each centre will tackle an area of unmet need, to unlock science, accelerate medical progress, and have the greatest impact for patients.