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Jayne's team have co-ordinated a sequence of randomised clinical trials, that have defined the standard of care for ANCA vasculitis treatment and shaped national and international guideline statements, NHS national commissioning guidance and an on-going NICE assessment. Together with Ken Smith his group have pioneered the use of the B cell-depleting agent rituximab, in vasculitis, contributing key evidence that led to its licence approval (USA and EU) for this indication. Ken Smith's group supported by Jayne's clinical team have discovered novel therapeutic biomarkers, patented and being assessed in Phase II clinical studies, that promise to deliver "personalised medicine" in this and related conditions. These activities have harmonised the management of vasculitis, are improving patient outcomes, and have provided a resource for on-going scientific and clinical studies.
Investigators at UCL have developed new diagnostic tests, new treatments and new methods for monitoring treatment of inborn errors of metabolism. Certain of these tests are now used to screen all newborns in the UK, all infants with liver disease and all infants with drug-resistant epilepsy. This is improving outcome for >120 UK children per year. For untreatable disorders, prenatal tests prevent the birth of a second affected child in the family.
Research conducted by Professor TM Cox has led to several advances in the management of lysosomal storage disorders; i) development of miglustat (Zavesca®); now available throughout the world (EMA and FDA approved) for adult patients with Gaucher's disease and throughout the European Union and five other countries worldwide for adult and pediatric patients with Niemann- Pick type C disease, ii) development of the potential successor eliglustat; now in Phase 3 clinical trials, iii) identification of a biomarker for Gaucher's: CCL18/PARC, now incorporated into NHS standard operating procedures for monitoring therapeutic intervention. His pre-clinical research into gene therapy for Tay-Sachs disease also helped establish the NIH-funded Gene Therapy Consortium and gain the FDA's pre-IND approval for clinical trials in 2013, which together have raised public awareness of this disease.
Our biomarker research and underpinning technologies have commercially impacted upon the global R&D strategies of Unilever, Philips and Mars, realising new market areas for them, resulting in several million GBP invested in related R&D as well as "claim support" for products both in development and already available on shelves. Unilever have adopted biomarker outcomes as endpoints in clinical trials of new products, and Philips and Mars are developing with us saliva-based near-patient diagnostic tests for the human and small animal markets. We have also spun out two SME's: A) Oral Health Innovations (OHI) Ltd has developed online risk and disease analysis software for oral conditions, which was piloted, adopted and launched by Denplan, the UKs largest dental capitation plan operator (accessing 6500 dentists and 1.8 million patients), at the 2013 annual British Dental Association conference; and B) GFC Diagnostics makes SmokeScreen™ a non-invasive, sensitive and objective saliva test developed from our biomarker research at Birmingham University. Both technologies have already provided demonstrable social and commercial impact and given their uptake to date, will also deliver economic, environmental and health impacts.
Systemic lupus erythematosus (SLE) is a multi-system autoimmune disease that is subject to relapses (flares) and remissions. Measuring disease activity in multiple systems, some of which may be worsening while others are improving, is a challenge in the management of patients with SLE and also in the conduct of clinical trials of new drugs for the treatment of SLE. The British Isles Lupus Assessment Group (BILAG) disease activity index for measuring lupus was developed by Professors Paul Bacon and Caroline Gordon at the University of Birmingham and has been validated and implemented for clinical trials and routine clinical practice. The instrument is able to capture significant improvement or worsening in lupus disease activity on a system based approach, leading to improved management and treatment of patients. It is the preferred disease activity instrument for international SLE trials recommended by the US Food and Drug Administration and European Medicines Agency, demonstrating impact on health and welfare and public policy and health services.
pGALS (paediatric Gait, Arms, Legs, Spine) is a quick, accurate and child-friendly examination technique that identifies children who need to be referred to a paediatric rheumatology specialist. pGALS has been widely disseminated since 2008 and integrated into both undergraduate medical student teaching and the membership examination for the Royal College of Paediatrics and Child Health. pGALS was developed by Newcastle researchers in response to their findings of a self-reported lack of confidence among clinicians when conducting musculoskeletal examinations of children. Research also showed that delays and inappropriate investigations were being conducted before the child was referred to a specialist. pGALS is now taught in at least 15 of the 32 medical schools in the UK and has been described in a number of leading textbooks. It is becoming known and used worldwide, adapted for local cultural and social contexts.
We have made substantial contributions to the diagnosis of lung disease by providing tools to assess and interpret lung function accurately across the entire lifespan. These contributions include: effects of lung disease being more clearly distinguished from those of normal growth, development and aging; increased understanding of the early determinants of adult respiratory disease and improved diagnosis of chronic obstructive lung disease. Commercially available equipment for assessing lung function in infants and preschool children has been developed based on our work and our recently developed multi-ethnic, all-age lung growth charts have been endorsed internationally and are now in widespread use.
Professor Platt and colleagues at the University of Oxford have developed the drug miglustat, the first oral therapy for rare lysosomal storage diseases. These are primarily neurodegenerative diseases that affect 1 in 5,000 live births, always leading to premature death. In 2009, miglustat became the first treatment to be licensed for treating neurological manifestations in Niemann-Pick disease type C (NPC). It is now prescribed for the majority of NPC patients worldwide, and has led to significant improvements in both life expectancy and quality of life. Miglustat was approved for type 1 Gaucher disease in 2002 and, since 2008, has proved an effective treatment for patients previously stabilised with enzyme replacement therapy; miglustat has the additional benefit of improving bone disease. Sales of miglustat since 2008 have generated CHF 315 million in revenues for Actelion, the company sublicensed to sell the drug.
We established a comprehensive international collaboration to develop, validate and apply new scales for the identification and quantification of non-motor symptoms and signs in Parkinson's disease (PD). This was intended to provide tools to assess response to treatment, help define the clinical prodrome of PD and provide a means to evaluate novel therapies designed to modify the course of disease. The scales have been produced, validated and published. They have been incorporated as end points in international clinical trials for PD and have been introduced by specialist societies and NHS commissioners as a standard of care for PD patients.
The University of Liverpool (UoL) research identified corticosteroid treatment for more than 3 consecutive months as a risk for serious sepsis in Crohn's disease and an indicator of poor practice; there are 115,000 Crohn's disease patients in the UK. Following this, national audits of Inflammatory Bowel Disease (IBD), also under UoL leadership, showed reduction in inappropriate long term steroid from 46% of Crohn's disease patients in 2006 to 21% in 2010. These audits led to widespread adoption of National Service Standards for the Care of Patients with IBD. Death and hospital readmission rates for IBD patients were subsequently significantly reduced.