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The UCL Centre for Amyloidosis and Acute Phase Proteins has designed and developed new chemical entities targeting serum amyloid P component (SAP), C-reactive protein (CRP) and transthyretin, for novel therapeutic approaches to amyloidosis, Alzheimer's disease, cardiovascular and inflammatory diseases. The UCL spin out company, Pentraxin Therapeutics Ltd, founded by Sir Mark Pepys to hold his intellectual property (IP), has licensed two programmes to GlaxoSmithKline (GSK). These highly synergistic, collaborative multi-million pound developments, strikingly exemplify new working relationships between academia and the pharmaceutical industry.
The UCL Centre for Amyloidosis and Acute Phase Proteins has identified the cause and treatment for the prototypical cryopryin associated periodic syndrome (CAPS), and subsequently for a range of other hereditary and acquired autoinflammatory disorders. As a result of the research, canakinumab was licensed for this condition. In recognition, NHS Specialised Services commissioned the UK CAPS Treatment Service in 2010 to deliver life-changing IL-1 blocking therapy to the national caseload of CAPS patients at UCL.
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 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.
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.
Over the past decade our research findings have impacted on the diagnosis and treatment of patients with inherited cardiomyopathies. Our work on risk stratification in patients with hypertrophic cardiomyopathy forms the basis for international guidelines on the use of implantable cardioverter defibrillators. Our research in patients with arrhythmogenic right ventricular cardiomyopathy has led to the development of a new international standard for the diagnosis of disease in patients and relatives. We have contributed to national and European guidelines on genetic testing in these conditions. We have also been influential in changing national policies, service design, and provision of care for inherited heart muscle disease.
Research at the UCL Institute of Child Health (ICH) has led to the successful treatment of children with primary immunodeficiency diseases for whom there was little chance of "cure" by the only other possible means: haematopoietic stem cell transplantation (HSCT). Beginning in 2002, we have treated 32 patients with four different primary immunodeficiency disorders. In total we have treated 12 patients with severe combined immunodeficiency (SCID-X1), 13 patients with adenosine deaminase deficient severe combined immunodeficiency (ADA-SCID), 5 patients with chronic granulomatous disease (CGD) and 2 patients with Wiskott-Aldrich syndrome (WAS). Most of the patients have been successfully treated and are at home, off all therapy. We are now starting to develop this technology to treat a wider range of related disorders.
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.
The production and use of monoclonal antibody, ALK1, by researchers in Oxford has been pivotal in enabling the accurate diagnosis and treatment of Anaplastic Large Cell Lymphoma (ALCL). This research also led to the formal classification of ALK-positive ALCL tumours by the World Health Organization in 2008. While ALCL accounts for 10-20% of paediatric/adolescent non-Hodgkin's lymphoma worldwide, its diagnosis had been problematical due to the absence of suitable reagents. This was remedied in 1997 when Oxford researchers created the first monoclonal antibody, ALK1, recognising anaplastic lymphoma kinase (ALK), a molecule that is associated with up to 90% of ALCL.
Psynova Neurotech is a prize-winning spin-out company founded by Professors Sabine Bahn and Chris Lowe from the University of Cambridge. It focuses on the commercialization of novel blood-based biomarker tests for conditions like schizophrenia, depression and bipolar disorder. Psynova and its partner company Rules Based Medicine (now Myriad RBM Inc.) launched the first commercially available Aid for the Diagnosis of Schizophrenia (VeriPsychTM) in 2010. In June 2011, Psynova and Rules Based Medicine were acquired by Myriad Genetics Inc. for £50 million. In February 2011 Psynova Neurotech and Professor Bahn were announced winner of the ACES best European Life Science spin-out award.