University Hospital of Wales

Posted 11 months ago by Wales Gene Park

CAEB1102-300A is a multi-center randomized, double-blind, placebo-controlled study to evaluate the safety and efficacy of pegzilarginase in patients with ARG1-D. This study will consist of a screening period; a randomized, double-blind treatment period; a long-term extension; and a follow up visit for final safety assessments. CAEB1102-300A is a multi-center randomized, double-blind, placebo-controlled study to evaluate the safety and efficacy of pegzilarginase in patients with ARG1-D. This study will consist of a screening period; a randomized, double-blind treatment period; a long-term extension; and a follow up visit for final safety assessments. Subjects will be randomized to treatment following completion of all screening assessments and confirmation of study eligibility in a 2:1 ratio to receive weekly IV infusions of pegzilarginase plus individualized disease management (IDM) or placebo plus IDM during the 24-week double blind treatment period. After completion of the 24-week double-blind treatment period, each subject will enter the long term, open-label...

 Hyperargininemia /  University Hospital of Wales

Posted 1 year ago by Wales Gene Park

Analysis of genes and their functions in patients with primary lymphoedema The aim of this study is to Identify new genes linked with unexplained lymphoedema

 Milroy Disease /  University Hospital of Wales

Posted 1 year ago by Wales Gene Park

EuroNet-PHL-C2: Second International Inter-Group Study for Classical Hodgkin's Lymphoma in Children and Adolescents Treatment for Hodgkin lymphoma is often very successful, and has given us high cure rates. Standard treatment is chemotherapy, and in children and young people, additional radiotherapy is sometimes needed. Unfortunately, radiotherapy can lead to long-term side effects, such as cardiovascular system disease and increased risk of secondary cancers later on in life. In this trial, researchers want to individually tailor treatment for each child and young person, effectively treating Hodgkin lymphoma, but avoiding over-treatment and thereby reducing the late side-effects. the main goal is to further reduce the use of radiotherapy, thereby avoiding the long-term side effects often seen with radiotherapy. The aim of this study is to: Reduce numbers of children needing radiotherapy and minimise the extent of irradiation Investigate if intensifying chemotherapy in children with intermediate/advanced Hodgkin lymphoma will compensate for the reduction in radiotherapy

 Classic Hodgkin lymphoma /  University Hospital of Wales

Posted 1 year ago by Wales Gene Park

PHITT: Paediatric Hepatic International Tumour Trial Liver cancer in the paediatric population is rare with an incidence approximately 1 - 1.5 million population. The commonest tumour seen in the childhood population is hepatoblastoma (HB), usually seen in young children and infants. Much rarer (about 10% of paediatric liver cancers) is hepatocellular carcinoma (HCC), usually seen in the teenage population and sometimes associated with underlying cirrhotic liver diseases. The ChiLTERN project builds on a unique opportunity to undertake a comprehensive research program linked to an ambitious global partnership which will see the single largest clinical trial (the Paediatric Hepatic International Tumour Trial - PHITT) ever undertaken in this population of patients, with several randomised questions in six subgroups of patients. PHITT and ChiLTERN will allow us to move towards an era of personalised therapy in which each patient will receive the correct amount of chemotherapy and will undergo the best surgical operation...

 Hepatic Cancer /  University Hospital of Wales

Posted 1 year ago by Wales Gene Park

We are carrying out research into conditions that affect the brain and / or the immune system. The disorders that we are interested in most likely arise due to changes in genes (or DNA); genes are like recipe books, telling the cells in our body how to make chemicals called proteins. The aim of our work is to understand how changes in the genes and proteins involved in these conditions cause disease. This is not understood at present, and so this research will provide new and important information. We believe that a better understanding of the cause of these diseases will bring us closer to developing ‘smart’ treatments for people affected by, or at risk of, these genetic conditions. The study is likely to take several years to complete and there may be no direct benefit from this research to your child. There would also not be any financial benefit....

 Neurology /  University Hospital of Wales

Posted 1 year ago by Wales Gene Park

Cystic fibrosis (CF) is an inherited condition where the lungs and digestive system become clogged with mucus. Lung infection is common and needs to be treated aggressively with antibiotics even if it isn’t causing many symptoms. Doctors need to use different antibiotics for different types of infection. In order to identify which bacteria is causing the infection, the child is often asked to give a cough swab, so that a sample of their airway liquids can be sent to the lab to see if anything grows. Cough swabs are relatively easy to obtain but are not as good a test as bronchoscopy, where a fibre-optic camera is put down into the large airway of the lungs so that mucus samples can be taken directly from the lower airway. Obviously having a bronchoscopy is a much larger procedure than having a cough swab, but sometimes it is necessary. Some CF centres...

 Cystic Fibrosis /  University Hospital of Wales

Posted 1 year ago by Wales Gene Park

A prospective study of Thrombotic Thrombocytopenic Purpura in the UK This is a UK based registry, involving all sites treating newly presenting Thrombotic Thrombocytopenic Purpura (TTP). From this registry, important epidemiological data will be obtained. Admission and remission samples will be collected. DNA will be collected and analysed from patients wishing to participate to determine if any link exists between mutations/polymorphisms and the risk of TTP. As part of NHS commissioning, this study will be undertaking long term follow up, to understand the impact of acute TTP on morbidity and mortality.

 Immune thrombocytopenia /  University Hospital of Wales

Posted 1 year ago by Wales Gene Park

Pustular psoriasis: eLucidating Underlying Mechanisms Pustular forms of psoriasis are characterised by painful, intensly inflamed, red skin studded with sterile pustules. The disease may be chronic and localised, typically to the hands and feet, or, more rarely, more generalised across the body and potentially life-threatening. Although pustular psoriasis accounts for less than 10% of psoriasis cases it consistently ranks highest among all variants in terms of symptoms and functional impairment. There is recent evidence, including work from our own group, to suggest that distinct underlying genetic and molecular pathways found in patients with pustular disease could be responsible for this particular disease presentation. The poor response to therapies used to great effect in other types of psoriasis may also be expla In PLUM we aim to identify and understand the genes that may have an influence on the development of pustular psoriasis, related immune pathways and responses to treatment. We...

 Generalized pustular psoriasis /  University Hospital of Wales


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