Behçet’s syndrome is a rare, multi-system inflammatory condition characterised by recurrent oral ulceration, genital ulceration, eye and skin involvement. There is currently very little data on incidence and prevalence of Behçet’s syndrome in children and young people, particularly within the UK and ROI population.
BPSU Behçet’s study.
The purpose of this study is to establish the current UK and ROI incidence and prevalence of Behçet’s syndrome and to describe the burden of disease in children under 16 years of age in the UK. This study has completed follow up (CI: C. Pain).
Childhood Renal Inflammatory Programme
Childhood Immunoglobulin A vasculitis (IgAV, previously known as Henoch Schonlein Purpura)
Immunoglobulin A vasculitis is the most common form of childhood vasculitis. Glomerulonephritis occurs in 30-50% of patients and it can cause long lasting renal damage. Understanding the scientific origin of this disease is important in order to develop new, more targeted treatments. We are currently looking at how the disease may originate from an abnormal production of immunoglobulin A (glycosylated versions) which is often co-located with complement products such as C3.
Working towards a diagnostic test to enable stratification of children with IgA vasculitis (HSP)
This study, funded by Vasculitis UK, investigates proteomic techniques that are capable of identifying the abnormal immunoglobulin products (CI: L. Oni).
Preliminary investigation to study children with inflammatory renal diseases and the role of complement protein C5
This study is funded by the Alder Hey Children’s Kidney Fund and aims to develop laboratory techniques to measure complement products which could allow us to link these to clinical phenotypes in children with IgAV (CI: L. Oni).
Childhood Lupus Nephritis – Renal Inflammation
We are investigating whether it is possible to predict a lupus renal flare earlier than using standard markers in clinical practice in the programme of work based on discovering 'Renal biomarkers in juvenile onset systemic lupus erythematosus'. Scientific investigation is continuing in the laboratory using immortalised renal cell lines to establish whether any of the specific biomarkers are arising directly from the kidney cells.
Through collaboration with Lupus UK and the UK JSLE Cohort Study group we have recently undertaken a patient awareness survey titled ‘Lupus and the Kidney’s’ to help us identify key targets for educating patients on the importance of renal health in lupus (CI: L .Oni).
Molecular mechanisms of bronchial inflammation
Does inhalation therapy enhance bronchial inflammation in viral bronchiolitis?
Small airway inflammation (bronchiolitis) is the most common cause of hospital admission in the first year of life. Currently, there are no specific treatments for this condition other than management based on supportive measures that can include inhalation treatment. This is thought to induce cough as a clearing mechanism for mucus that would otherwise obstruct airways, but its effectiveness as a treatment for bronchiolitis is currently unknown. This study will help to understand mechanisms of airway inflammation during virus infection, and whether inhalation treatment helps or hinders these mechanisms (CIs: C. Hedrich and P. McNamara).
Systemic inflammation in Cystic Fibrosis
Cystic fibrosis (CF) is a heritable and devastating multisystem disease, particularly involving the lungs and gastrointestinal tract. Tissue inflammation is a central contributor to disease expression and organ damage in CF, but the exact mechanisms triggering inflammation remain unclear.
Since a subset of CF patients develop joint pain and/or inflammation (arthritis), and some patients even develop symptoms of vasculitis (blood vessel inflammation), uncontrolled activation of immune cells appears likely to be involved in the pathophysiology of CF and its sequelae. In this project, we investigate molecular mechanisms contributing to bronchial and systemic inflammation (CIs: C. Hedrich and P. McNamara).
Juvenile dermatomyositis (JDM)
Juvenile dermatomyositis (JDM) is an autoimmune, inflammatory disease of the muscle, skin, and blood vessels. It is a rare condition that affects approximately 3 million children in the UK each year and girls are twice as likely to be affected as boys.
Juvenile Dermatomyositis National (UK and Ireland) Cohort Biomarker Study and Repository for Idiopathic Inflammatory Myopathies
This UK network is collecting data and samples from JDM cases to be used to used questions about JDM (Investigator L. McCann).
Development of an internationally agreed minimal dataset for Juvenile Dermatomyositis (JDM).
The JDM minimal dataset study aims to get international agreement on a core set of information (data) that clinicians and researchers need to collect on all patients with JDM (CI: L. McCann).