Thrombophilia

In parallel with the growth of ATHN's clinical studies, the number of new therapies for all blood disorders is increasing significantly. Some of the recently FDA-approved therapies for congenital and acquired hematologic conditions have not yet demonstrated long-term safety and effectiveness beyond the pivotal trials that led to their approval. In addition, results from well controlled, pivotal studies often cannot be replicated once a therapy has been approved for general use.2,3,4,5 In 2019 alone, the FDA has issued approvals for 24 new therapies for congenital and acquired hematologic conditions.6 In addition, almost 10,000 new studies for hematologic diseases are currently registered on www.clinicaltrials.gov.7 With this increase in potential new therapies possible, it is imperative that clinicians and clinical researchers in the field of non-neoplastic hematology have a uniform, secure, unbiased, and enduring method to collect long-term safety and efficacy data. As emphasized in a recently published review, accurate, uniform and quality national data collection is critical in clinical research, particularly for longitudinal cohort studies covering a lifetime of biologic risk.8

This observational case-control study aims to develop a multidimensional risk assessment model for thrombophilia-related abnormalities in females with polycystic ovary syndrome (PCOS). The study will analyze endocrine, metabolic, and genetic factors associated with decreased protein C and/or protein S levels in participants with PCOS. The results are expected to provide evidence for risk stratification and individualized management in this population.

This is an observational study designed to evaluate the effectiveness and safety of direct oral anticoagulants (DOACs) compared with vitamin K antagonists (VKAs) for the secondary prevention of thrombosis in patients with low-risk thrombotic antiphospholipid syndrome. Antiphospholipid syndrome is an autoimmune disorder associated with an increased risk of thrombotic events. Although VKAs have traditionally been the standard treatment, DOACs are increasingly used in clinical practice in selected patients, despite limited evidence in this setting. This study includes patients with previous venous thrombosis and a low-risk serological profile who are treated with either DOACs or VKAs according to routine clinical practice. The primary objective is to compare thrombotic recurrence and bleeding events between both treatment strategies. The results of this study will contribute to improving knowledge about the use of DOACs in patients with low-risk thrombotic antiphospholipid syndrome.

In parallel with the growth of ATHN's clinical studies, the number of new therapies for all blood disorders is increasing significantly. Some of the recently FDA-approved therapies for congenital and acquired hematologic conditions have not yet demonstrated long-term safety and effectiveness beyond the pivotal trials that led to their approval. In addition, results from well controlled, pivotal studies often cannot be replicated once a therapy has been approved for general use.2,3,4,5 In 2019 alone, the FDA has issued approvals for 24 new therapies for congenital and acquired hematologic conditions.6 In addition, almost 10,000 new studies for hematologic diseases are currently registered on www.clinicaltrials.gov.7 With this increase in potential new therapies possible, it is imperative that clinicians and clinical researchers in the field of non-neoplastic hematology have a uniform, secure, unbiased, and enduring method to collect long-term safety and efficacy data. As emphasized in a recently published review, accurate, uniform and quality national data collection is critical in clinical research, particularly for longitudinal cohort studies covering a lifetime of biologic risk.8

This study focuses on patients who have a condition called extrahepatic portal vein obstruction (EHPVO), where a blood clot blocks the portal vein outside the liver. This blockage can cause problems like an enlarged spleen, bleeding from swollen veins in the digestive system, and low blood cell counts. Many of these patients may have hidden blood disorders that increase the risk of clotting, such as myeloproliferative neoplasms (MPNs), antiphospholipid syndrome (APS), or paroxysmal nocturnal hemoglobinuria (PNH). This study will collect and analyze blood test results-such as complete blood count (CBC), liver function tests (LFTs), and clotting tests-from patients with EHPVO. The aim is to find patterns that may suggest an underlying blood disorder, even if the patient doesn't show obvious symptoms.By understanding these patterns early, doctors may be able to diagnose and treat the root causes of clotting in these patients more accurately, helping prevent complications and improve outcomes.

This is a multicenter, prospective, longitudinal, observational cohort study to investigate thrombosis and hemostasis diseases in Chinese patients. This study will collect basic information, diagnostic and treatment information, as well as medical expense information of patients from medical records.The incidence and risk factors of thrombosis and hemostasis diseases, the treatment methods, prognosis and medical expenses of these patients in China will be analyzed. The study will use questionnaire to measure the exposure of patients, and prospectively follow-up to collect the prognosis information.

BACKGROUND: Worldwide, 2 million patients aged 18-50 years suffer an ischemic stroke each year with an increasing trend over the past decade due to yet unknown reasons. Whereas prognosis and antithrombotic treatment in older patients with cardiovascular disease are among the best studied topics in clinical medicine, this does not hold true for patients at young age. It is of great importance to treat these patient groups correctly to prevent recurrence and bleeding complications. However, previous research have shown that there is a long-term increased risk of recurrent ischemic events despite the secondary prevention and a subsequent increased bleeding risk. To tailor effective antithrombotic therapy to the individual patient, it is essential to understand the underlying pathogenesis and identify modifiable risk factors in young patients for recurrence or bleeding. It is thought that abnormalities of hemostasis may play a key role in early-onset ischemic stroke. First, prothrombotic conditions are associated with an increased risk for ischemic stroke at young age. In addition, disturbance of the hemostatic balance due to one or several triggers can activate the coagulation cascade, which on its turn can lead or contribute to clot formation and subsequent arterial occlusion. In previous study, there were indications that trigger factors such as fever and/or an infection in the days prior to the stroke may play a role in the pathogenesis. This suggests that an interaction between inflammation, endothelial damage and coagulation may lead to the formation of a clot. In this observational study we aim to investigate the role of the immune system, endothelial damage and coagulation in the pathogenesis and prognosis of stroke in young patients. OBJECTIVE: To investigate the role of hemostasis, inflammation and endothelial activation in the etiology and prognosis in an acute ischemic stroke (or TIA) in young stroke patients. STUDY DESIGN: Multicentre prospective observational study STUDY POPULATION: All patients aged between 18 and 50 years old with a first-ever ischemic stroke or TIA who are admitted to the neurology ward or seen at the outpatient clinic of one of the participating centers. Main exclusion criteria are: history of clinical TIA, ischemic stroke or intracerebral hemorrhage. A intracerebral hemorrhage resulting from trauma, known aneurysm or underlying intracerebral malignancy. A venous infarction, retinal infarction and amourosis fugax. Inadequate control of the Dutch language to reliably sign an informed consent from and/or participate in the follow-up. Patients are excluded if they have a contra indication for 3T MRI. In addition 60 healthy controls (18-50 years old) will be included. MAIN STUDY ENDPOINTS: 1. Baseline and 3 months coagulation profile: Whole blood and platelet poor plasma thrombin generation, platelet function tests, and coagulation biomarkers, screening for thrombophilia. 2. Baseline and 3 months inflammation/endothelial activation profile: Cytokines/chemokines, expression of receptors/cofactors related to hemostasis on peripheral blood mononuclear cells (PBMCs), stimulation tests of PBMC's to assess trained immunity. 3. Vessel wall enhancement on 3 Tesla MRI 4. Questionnaire trigger factors