Cardiff University

Posted 1 year ago by Wales Gene Park

FOCUS4: A trial looking at different treatments for different types of bowel cancer Not all bowel cancers are the same and tests can be done on tumour samples from patients with bowel cancer that may help select the best treatment for that individual patient. There are a number of new cancer drugs that may be more beneficial in one type of bowel cancer than another. The FOCUS4 trial programme aims to recruit over 1500 patients at centres across the UK to evaluate how well these new cancer drugs work in different types of bowel cancer. Patients diagnosed with bowel cancer which is not removable by surgery or has spread to elsewhere in their body will be invited to join this programme of trials. Patients who decide to join will be started on a course of chemotherapy (a form of drug treatment aimed to kill the cancer cells) for up to...

 Rare Bowel Cancers /  Cardiff University

Posted 1 year ago by Wales Gene Park

The DOMINO-HD study (Multi-Domain Lifestyle Targets for Improving ProgNOsis) is exploring how digital technologies, such as wearable fitness trackers, can be used to support people with Huntington’s disease (HD). Huntington’s disease (HD) is an inherited neurological condition that causes difficulties with movement and coordination. It also causes cognitive impairment that gets worse over time. Symptoms usually develop when people are between 30 and 50 years old and dementia can occur at any stage of the condition. There are currently no treatments for the condition. Current research suggests strong potential for improving quality of life for those living with neurodegenerative diseases, such as HD, with novel health and social care concepts, and innovations focusing on the preservation of dignity, independence and social inclusion. However, the availability and quality of such services vary considerably across Europe and beyond. The programme seeking to improve quality of life for people with Huntington’s disease. Huntington’s is a...

 Huntington's Disease /  Cardiff University

Posted 1 year ago by Wales Gene Park

Many cancers have hijacked growth factor receptors and or downstream signalling components through mutations that render the pathway constantly active and so drive cancer cells division. Over the last decade, drugs have been introduced that simultaneously inhibit multiple growth factor pathways (such as tyrosine kinase receptor inhibitors), single pathways (vascular endothelial growth factor receptor, transforming growth factor beta receptor, epidermal growth factor receptor and hedgehog pathway antagonists), mutated targets (B-Raf inhibitors), and downstream signalling targets (MEK inhibitors). While malignancies in patients often demonstrate an initial response to these drugs, cancer recurrence is frequently observed. My group over the last five years has defined cancer stem cells (CaSC) in the two commonest skin cancers, using internationally agreed assays. We have shown in high impact scientific publications that basal cell carcinoma (BCC) CaSC are resistant to both conventional chemotherapy and the recently approved growth factor inhibitor vismodegib. Microarray analysis of treated and...

 Oncology /  Cardiff University

Posted 1 year ago by Wales Gene Park

We will undertake a prospective study of adult MAP patients with confirmed bi-allelic mutations across collaborating European centres. Data from upper GI surveillance procedures including endoscopy and histopathology findings will be collated as an ongoing process by the Institute of Medical Genetics, Cardiff, UK where it will entered into a database and stored safely. We will also collect prospectively data on other incident cancers diagnosed in these patients. All causes of death and all dates of death will be recorded. Recruitment of patients from the European centres and consent will be obtained using local procedures, and ethical approval will be obtained in each country. As MAP is a rare disorder, and the interval between surveillance procedures may be as much as 5 years, this study is planned to take place over 20 years.

 MUTYH-Associated Adenomatous Polyposis (MAP) /  Cardiff University

Posted 1 year ago by Wales Gene Park

The Genetics of Endocrine Tumours is an observational clinical trial. The study currently has 500 families and 3000 sporadic subjects recruited from almost 50 NHS sites around the country. Any patient with a pituitary tumour is eligible to enrol, though we are particularly interested in the cohort of familial isolated pituitary adenoma (FIPA) patients. FIPA accounts for around 5% of pituitary adenomas with 20% of these patients having a mutation in the gene Aryl Hydrocarbon Receptor Interacting protein (AIP). Our study has helped to characterise AIP and other novel genes that contribute to pituitary tumorigenesis. We are lucky to receive regular bloods and fresh tissue from pituitary tumour patients which are used for DNA/RNA analysis, tissue culture and in-vivo models.

 Genetics /  Cardiff University

Posted 1 year ago by Wales Gene Park

We propose to study a group of genetic conditions, called RAS¬MAPK pathway disorders, in which high rates of congenital abnormalities, learning difficulties, short stature and other health and developmental problems occur (including childhood tumours). The incidence of these various problems is not yet fully known in the different conditions. This study seeks to find out how common these different features are across the conditions. Changes in many different genes cause these disorders. The proteins that these genes code for all work together in a biochemical pathway, called the RAS¬MAPK pathway. We will examine what particular problems are associated with particular changes (mutations) in each of the genes. Some patients with these conditions do not currently have a known genetic reason for their condition, and we shall seek to identify new genes for these conditions. To do this, a group of patients will be studied, and blood and, where available, other...

 RAS-MAPK pathway /  Cardiff University

Posted 1 year ago by Wales Gene Park

– For adults with AML or High Risk MDS aged 18 to 60 years, and for patients aged 60 years or over for whom intensive therapy is considered appropriate If you are on the AML 19 trial, you will receive intensive induction chemotherapy like the patients who enter the AML 18 trial, following written consent to enter the study. In this study, the first two courses of treatment, called the induction phase, will consist of two combinations of chemotherapy drugs which are being compared, called DA (Daunorubicin and Ara-C), or FLAG-Ida (Fludarabine, Ara-C, G-CSF and Idarubicin). Both combinations have been widely used and have already been extensively tested and given to hundreds of patients. Again, similar to AML 18, this study will also compare if adding one or two doses of Mylotarg to standard treatment (DA or FLAG-Ida) is better. Therefore, patients will also receive one dose or two doses...

 Myelodysplasic Syndromes /  Cardiff University

Posted 1 year ago by Wales Gene Park

The immune system is complex and involves many chemicals, including type I interferon. The system must be finely balanced as too much interferon can itself cause ill health. Indeed, a change in one of several different genes can cause too much interferon to be produced. The problems that occur due to this differ depending upon which gene is changed, but can include problems with the brain, skin, lungs or bones. These conditions are called type I interferonopathies. For this study we are looking to collect detailed information about the long-term effects of having one of these types of conditions. We hope that by gaining more information about how these types of conditions develop, we will be able to provide better counselling for patients who have been diagnosed and also to design better treatments in the future. We will be approaching patients in 2 ways: New patients that present to their...

 Type I interferonopathies /  Cardiff University

Posted 1 year ago by Wales Gene Park

Relapse (the chance of disease coming back after treatment) is very high in acute myeloid leukaemia even after  curative approaches with intensive chemotherapy and bone marrow transplantation. The bone marrow  microenvironment which includes the stromal cells (MSC) surrounding the blood cells/leukaemia cells is thought to  be a key player in chemotherapy resistance and acts as a sanctuary site for minimal residual disease (MRD) from  which relapse may occur. Once MRD is detectable, frank relapse is likely within a short time-frame affording  insufficient time for effective salvage interventions. In addition, a large proportion of patients there is no informative  MRD marker thus disease relapse can occur with little warning. In this study, we aim to investigate the role of patient  MSC in protecting AML cells at different stages of treatment including post chemotherapy and after stem cell  transplantation. By developing a 3D dynamic model of leukaemia-stroma interactions which can better mimic...

 Acute myeloid leukaemia /  Cardiff University

Posted 1 year ago by Wales Gene Park

PHAZAR: A phase Ib study to assess the safety and tolerability of oral Ruxolitinib in combination with 5-azacitidine in patients with advanced phase myeloproliferative neoplasms (MPN), including myelodysplastic syndromes (MDS) or acute myeloid leukaemia (AML) arising from MPN. Myeloproliferative Neoplasms (MPNs) are uncommon diseases that in some cases will progress to an acute leukaemia which is very difficult to treat. As this often happens to older people, most patients are unsuitable for bone marrow transplant therapy. There are few other treatment options for these patients and survival is only around 6 months. This trial will combine a treatment (ruxolitinib) that is effective at symptom control and may confer a survival advantage in myelofibrosis (an MPN) with azacitidine, a treatment that has proven activity in patients with some types of myelodysplastic syndrome and acute myeloid leukaemia. As these two treatments have not been used together before, the trial will consist of...

 Myelodysplasic Syndromes /  Cardiff University

Posted 1 year ago by Wales Gene Park

Framing the trajectories of decision-making in the context of predictive and prenatal genetic and genomic tests A study to identify the factors that influence the decisions made by genetic counselling patients about proceeding with genetic tests. Background Most genetic tests are carried out to confirm a diagnosis. Some people are offered genetic tests for reasons that are only partly medical and where the patient’s personal views and preferences are as important (if not more important), than any medical reasons. The purpose of this research is to understand how patients make these decisions. Study aim The study aims to identify the factors that influence the decisions made by genetic counselling patients about proceeding with genetic tests. It will also examine to what extent a patient’s decision-making processes are shaped by their conversation with the healthcare professionals in clinics, and to what extent factors from outside the clinic influence this decision. Understanding...

 Cardiff University

Posted 1 year ago by Wales Gene Park

Huntington’s disease (HD) commonly begins in mid-life. However, research over the last 20 years has demonstrated that subtle behavioural and cognitive changes can occur 10 years or more before a formal clinical diagnosis is made, and recent studies have demonstrated the presence of changes on brain imaging 20 years prior to predicted onset of the disease in individuals who are clinically completely normal. This has prompted the question “is the brain ever normal in HD?”. Answering this question and characterising any such changes will be important for A full understanding of the genetic and cellular processes leading to the death of specific brain cells in HD Revealing new therapeutic targets Judging the stage at which various disease-modifying treatments (once available) should be used in clinical trials With the promise of disease-modifying treatments on the horizon, ranging from drugs to infusions of RNAi/ASOs (molecules to suppress the formation of the toxic mutant...

 Huntington's Disease /  Cardiff University

Posted 1 year ago by Wales Gene Park

Enroll-HD is a global observational study for Huntington’s disease families The purpose of this study is to collect information from study participants, allowing researchers to understand more about the disease, with the aim of accelerating the discovery and development of potential treatments for Huntington's Disease (HD). It will monitor how the disease appears and changes over time in different people; those who have a clinical diagnosis and those who are at-risk of developing the disease. ENROLL-HD also collects information from HD family members and carers.  

 Huntington's Disease /  Cardiff University


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