Patients with the rare inherited bleeding disorders, afibrinogenaemia and dysfibrinogenaemia commonly require concentrated fibrinogen therapy to treat or prevent bleeding. Recent studies have highlighted that each type of fibrinogen treatment works a little differently, in particular in the degree to which a strong blood clot, that doesn't dissolve rapidly, is formed. We have recently studied the different effects of two commercial fibrinogen concentrates (Riastap®and Fibryga®) on clot formation in a patient with afibrinogenaemia. Our report suggests that the specific choice ...

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This is a study putting together large numbers of patients with or without a hereditary risk of adrenal tumours including tumours such as adrenocortical carcinoma and phaeochromocytoma/paraganglioma. The purpose is to answer questions about the survival of patients with these rare tumours and to do this, we will collect information on diagnosis and management of these tumours. This data will be best assessed by combing these rare cases at a national level recruiting from centres throughout UK and Ireland. The ...

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Millions of people suffer due to cardiac arrest every year and in many cases, the cause of the cardiac arrest is related to a disorder of the electrical activity of the heart. Calcium Release Deficiency Syndrome (CRDS) is a recently discovered electrical heart disorder that develops due to a genetic change in the RyR2 gene resulting in the low activity of RyR2 protein. Currently, CRDS needs genetic testing to be diagnosed and then the identified RyR2 genetic change needs to ...

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There are many types of dementia. This research studies the family of illnesses known as Frontotemporal type of dementia. This devastating group of illnesses change behaviour, language, and movement. Frontotemporal dementia often affects younger adults and runs in families. There is long running inflammation in the brain with Frontotemporal dementia – suggesting that anti-inflammatory treatments might slow or prevent decline. However, no two people are the same in their symptoms, or in what drives inflammation. For example, genetics, lifestyle, ethnicity ...

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We aim to establish a registry of children young people and adults who are IAb positive. We will use the registry to address the following research questions: 1. What is the lived experience of being IAb positive,or having a child who is IAb positive? 2. What are IAb positive individuals’ and their families’ information and support needs? 3. What are the frequency and risk factors associated with clinical outcomes,including progression to Stage 3 T1D in a UK cohort 4. How does the UK IAb positive cohort compare ...

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We are conducting a study to gather more information on the safety and effectiveness of Xromi (hydroxyurea), a liquid medicine licensed to treat sickle cell disease (SCD) in children from 9 months of age. We aim to understand its safety profile and efficacy in preventing serious SCD complications (e.g., pain crises, acute chest syndromes, stroke) in children under 2 years when used in standard care. We will compare medical information collected during routine clinical appointments of children under 2 years who ...

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Patients with chronic obstructive pulmonary disease-obstructive sleep apnoea (COPD-OSA) overlap syndrome have higher rates of COPD exacerbations compared to patients with similar severity COPD without OSA. It is currently not known whether treating OSA in those with COPD-OSA overlap reduces exacerbation rates. COPD exacerbations are characterised by acute transient worsening of symptoms such as dyspnoea, sputum production, sputum purulence and cough which are above the normal day to day variation in symptom burden and are usually associated with escalation of ...

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The purpose of this study is to measure the PK, PD, safety, tolerability, and immunogenicity of efgartigimod PH20 SC in pediatric participants with gMG aged 2 to < 18 years. The primary goal is to confirm an appropriate dose of efgartigimod PH20 SC for pediatric patients using PK and PD results from this study. Participants will receive 4 once-weekly injections of efgartigimod PH20 SC and will be monitored for safety until the end of the study. At the end of ...

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Despite the lack of evidence on safety or efficacy, many clinicians offer whole body therapeutic hypothermia to infants with mild hypoxic ischaemic encephalopathy, and even to those without any encephalopathy. Such a wide variation in clinical practice within the NHS not only leads to poorer outcomes and may harm infants who would have otherwise done well, but masks improvements in obstetric care and increase litigations. The COMET trial will establish the safety and efficacy of whole-body hypothermia for mild hypoxic ischaemic ...

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The main purpose of the trial is to determine when the most beneficial time for people to start or restart a DOAC after their head injury is. People will be asked to start the medication either 1 week or 4 weeks after their head injury. This will be randomly assigned by a computer. They will then be followed closely for 12 weeks and any major bleeding events or a blood clots (thrombotic events) such as a stroke or heart attack ...

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