View clinical trials related to Hemophilia A.
Filter by:The main purposes of this study are to determine if use of emicizumab prophylaxis treatment reduces number of bleeding episodes, if it improves quality of life of individuals and if improves arthropathy in persons with hemophilia A.
Cerebral microbleeds (CMBs) are haemosiderin deposits, resulting from the leakage of erythrocytes from small cerebral vessels, which can be detected noninvasively using susceptibility-sensitive magnetic resonance imaging (MRI) techniques. CMBs are commonly observed in daily practice: their prevalence range from five percent in healthy individuals over 65 years old to 50% in patients with a history of stroke. CMBs are associated with intracerebral hemorrhage (ICH) and also cognitive impairment and dementia. The pathophysiology of CMBs is thought to primarily involve damage to brain microvasculature but the exact underlying cascade of events, including a potential role for haemostasis, has yet to be elucidated. Haemostatic defects (congenital or acquired) may contribute to an increased number and importance of CMBs. Congenital bleeding disorders such as haemophilia or von Willebrand disease (vWD), populations at high risk of ICH, are unique conditions that may give us further insights into a potential role of haemostatic defects in the pathophysiology of CMBs. CMBs might be the missing link between severe haemostatic defects, ICH risk and cognitive function. We hypothesized that severe congenital haemostatic defects could contribute to an increased prevalence and number of CMBs, with an impact on cognition in adulthood.
Recent technological innovations have enabled the creation of portable and easy-to-wear sensors with incredible potential to alter the clinical practice of rehabilitation. Using wearable sensors we have gathered preliminary data in the clinical setting measuring walking ability and function. Preliminary data shows that these wearable sensors can detect improvements in walking ability and function after a 12-week physiotherapy exercise programme in boys with haemophilia. In this proposal, we want to test the use of these wearable sensors in the patient's home to remotely monitor joint health and the effects of rehabilitation for people with haemophilia. We expect that wearable sensor technology is an efficient and promising tool to evaluate and monitor joint health and pain in persons with haemophilia. If usable in the home setting, the wearable sensors have the potential to provide immediate real-time feedback on joint health and rehabilitation goals to the patient and their haemophilia care team without the patient having to leave their home. The project will also support educational activities with researchers and patients to ensure that the use of this new type of rehabilitation will be fully integrated with their future treatment and management.
The goal of this observational study is to learn about the changes in coagulation factor VIII and IX levels in patients undergoing liver transplantation to help guide future management of coagulation factor replacement in patients with hemophilia and liver disease. The question we aim to answer is: should the recommendations for factor replacement in patients with hereditary bleeding disorders be altered in the setting of end stage liver cirrhosis? Participants will be asked to provide two blood samples, one at the beginning of their liver transplant, and one after their liver transplant.
The aim of our study is to evaluate the viscoelastic properties of lower extremity muscles in patients with hemophilia A and hemophilia B secondarily to compare them with their healthy peers.
Hemophilia A and B are congenital, recessive X-linked disorders caused by lack or deficiency of clotting factor VIII (FVIII) or IX (FIX), respectively. The severity of the disease depends on the reduction of levels of FVIII or FIX, which are determined by the type of the causative mutation in the genes encoding the factors (F8 and F9, respectively). The hallmark clinical characteristic, especially in untreated severe forms, is bleeding (spontaneous or after trauma) into major joints such as ankles, knees and elbows, which can result in the development of arthropathy. Intracranial bleeds and bleeds into internal organs may be life-threatening. The median life expectancy was ~30 years until the 1960s, but improved understanding of the disorder and development of efficacious therapy based on prophylactic replacement of the missing factor has caused a paradigm shift, and today individuals with hemophilia can look forward to a virtually normal life expectancy and quality of life.
Recombinant factor VIII for the prevention of bleeding in women/girls with haemophilia A undergoing major surgery
This observational study will obtain liver biopsy samples and evaluate the long-term effect of adeno-associated virus (AAV)-mediated gene therapy on the liver tissue in adult patients with hemophilia A or hemophilia B who have previously been treated with a factor VIII or factor IX gene-containing AAV-vector for liver-targeted gene transfer. Participants are from a cohort of patients treated with AAV-mediated gene transfer and at least 6 months after vector infusion
Nine Multiple Sclerosis (MS) patients suffering an acute relapse from the outpatient or inpatient settings will be consented to be followed prospectively for three months post relapse, in an effort to identify markers of incomplete relapse recovery. Factor VIII-related labs will be drawn for three months without influencing standard of care treatment decisions. During this time, patients will be followed with clinical and diagnostic assessments in addition to blood tests including: Expanded Disability Status Scale (EDSS), Multiple Sclerosis Functional Composite (MSFC), recovery surveys, and MRIs of the brain, cervical spine, and thoracic spine with and without contrast. Clinical, imaging, and Factor VIII-related lab data individually or in aggregate will be correlated with relapse presence, severity, and extent of recovery following standard treatment interventions.
This study aimed to establish the validity and reliability of the Turkish version of the Pediatric Haemophilia Activities List (short - PedHALshort) questionnaire.