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Motor neuron disease (MND) is a devastating and debilitating disease with poor prognosis; most patients die from progressive respiratory failure within three years of onset. A randomised controlled trial conducted in Newcastle provided robust evidence that non-invasive ventilation for patients with MND can significantly improve quality of life and increase survival (216 days with non-invasive ventilation compared to 11 days without). Findings from this trial underpinned recommendations concerning the use of non-invasive ventilation in MND in clinical guidelines internationally, and use in clinical practice has increased in the UK, across Europe, and in the US and Australasia. In the UK, the number of MND patients successfully established on non-invasive ventilation in 2009 had increased 3.4-fold since 2000 and since 2009 has further increased almost two-fold.
Congenital myasthenic syndromes (CMS) are inherited neuromuscular disorders caused by defects at neuromuscular junctions, which are often a result of acetylcholine receptor gene mutations. A subset of CMS patients (around 14% in the US and Europe) have limb-girdle myasthenia (LGM). This disease can be highly disabling with symptoms including increasing weakness of skeletal muscles. As a result of collaborative work between Newcastle and Oxford, it was determined that many LGM patients have a mutation of the Dok-7 gene (unrelated to the acetylholine receptor), and do not, therefore, respond to standard CMS treatments. Since then, a number of additional mutations have been discovered, and genetic testing is now available for the majority of known LGM-causative genes. Crucially, Dok-7 patients, and those with other non-receptor related mutations, can now be diagnosed accurately and treated effectively, with ephedrine and salbutamol (in the US, albuterol). This significantly improves these patients' quality of life by enabling them to walk and breathe unassisted.
Work on better management and identification of Medically Unexplained Symptoms (MUS) has led to the introduction of new treatments in primary care in England through the Improving Access to Psychological Treatment (IAPT) programme as well as having an impact on service planning and commissioning. These approaches have also been implemented into the routine training and practice of General Practitioners (GPs) in parts of Europe. A clinical and economic evaluation of a psychosocial approach to chronic fatigue syndrome using general nurses and development of a cognitive behaviour therapy approach has changed general practice and enhanced the patient experience for those with MUS.
Through the mathematical modelling of biomedical processes, outcomes for patients with multiple myeloma (a form of bone cancer that can lead to kidney failure, a major cause of morbidity) have been vastly improved, with the result that dialysis treatment may no longer be necessary alongside their myeloma treatment. Regaining kidney function for these patients improves their quality of life and results in significant cost savings for the NHS. Research into the modelling of the kinetics of whole antibodies produced by multiple myeloma patients (and others) has also had an impact on patient outcomes and clinical decisions. There have also been economic benefits for Gambro, a German company that sells products developed on the basis of the research results.
Research at the University of Nottingham has defined the clinical phenotype and management of lymphangioleiomyomatosis, a rare and often fatal multisystem disease affecting 1 in 200,000 women worldwide. The group has led the development and evaluation of new therapies and diagnostic strategies which are now part of routine clinical care. The research has underpinned the transformation of this previously under recognised and untreatable disease into a condition recognised by respiratory physicians, with international clinical guidelines, patient registries, clinical trials, specific treatments and a UK specialist clinical service.
Research on Congenital Adrenal Hyperplasia (CAH) at the University of Sheffield has resulted in both health and commercial impacts. The research has led to a new drug treatment, Chronocort®, being developed for CAH. Chronocort® has been tested in CAH patients with the positive outcome of improved disease control.
Commercial impact arose from the creation of a spin-out company, Diurnal Ltd, in 2004 which has raised investment of £3.8M since 2008, including £0.4M from pharmaceutical industry sources, and (as an SME partner) a €5.6M Framework 7 grant to develop a paediatric treatment for CAH. Diurnal has created five new jobs and has contracts with six UK companies worth £2.7M.
As a result of University of Sheffield research in 1995-2002, a new gold standard treatment for major bleeding on warfarin has been established, ensuring the more effective treatment of tens of thousands of patients requiring emergency anticoagulation reversal each year in the UK alone. The treatment, using prothrombin complex concentrate (PCC) was demonstrated to be superior to fresh frozen plasma (FFP), the standard alternative at the time, and two PCCs have now been licensed for this indication in the UK.
UK and international guidelines now recommend PCC over FFP.
Research conducted by Professor Tim Goodship and co-workers at Newcastle has had a profound effect on the prognosis for patients with atypical haemolytic uraemic syndrome (aHUS). By engaging in research on the genetic factors underlying the disease they developed an understanding of the molecular mechanisms responsible. Identifying that the majority of patients with aHUS have either acquired or inherited abnormalities of the regulation of complement (part of the immune system) led to the establishment of a UK national service for genetic screening and treatment with the complement inhibitor eculizumab. As eculizumab is now available to patients in England, the progression to end-stage renal failure can be prevented and patients already on dialysis will soon be successfully transplanted.
Between 1996 and 2013 researchers at Swansea University evaluated service initiatives and changing professional roles associated with the management of patients with debilitating gastrointestinal disorders. This work showed the clinical and cost effectiveness of two main innovations: open access to hospital services for patients with inflammatory bowel disease; and increased responsibility for nurses, particularly as endoscopists. Our evidence has had a broad, significant impact on: national policy through incorporation in NHS strategies, professional service standards and commissioning guides; service delivery through the provision of increasing numbers of nurse endoscopists and the wide introduction of nurse-led open access to follow-up; and patient care, as documented in sequential national audits in 2006, 2008 and 2010.
Lung transplants represent the last hope for cystic fibrosis patients with end-stage lung disease. However, since the mid-1990s, other than in large research centres, some cystic fibrosis patients were not offered this treatment because of the variable and often poor outcome of surgery. This patient group carried a difficult to treat bacterial infection caused by the Burkholderia genus. In 2001 researchers in Newcastle published findings that demonstrated that one particular species, Burkholderia cenocepacia, was responsible for the poor outcomes and that other species of Burkholderia were not as dangerous. This finding was incorporated into international guidelines and since 2008 most transplant centres worldwide have adopted a risk stratification approach to listing patients for transplant. Consequently, more than 30 people per year worldwide now get transplants that would otherwise have been denied.