Active clinical trials for "Polycythemia"

The study will look at the risk factors for pulmonary hypertension (high blood pressure in the lungs) in children and adolescents with sickle cell anemia (SCA) and examine the role of hypoxia (oxygen shortage) in the disease. In patients with SCA, red blood cells become sickle-shaped and tend to form clumps that get stuck in blood vessels, blocking blood flow to the limbs and organs. Blocked blood vessels can cause pain, serious infections, and organ damage. Many patients with SCA also develop pulmonary hypertension. Children and adolescents with SCA or Chuvash polycythemia (another blood disorder that carries an increased risk for pulmonary hypertension) may be eligible for this study. Participants undergo the following procedures at the beginning (baseline) and end of the study: History, physical examination and blood tests . Echocardiography (ultrasound study of heart function). Transcranial doppler (brain ultrasound study to measure brain blood flow). Lung function tests. 6-minute walk (measure of the distance covered in 6 minutes of walking). In addition, patients are followed by telephone or by clinic visits every 6 months for a review of their medical history and medications. A physical examination is also done at 12 months.

Myeloproliferative neoplasms (MPN) such as Polycythemia Vera (PV) and, Essential Thrombocythaemia (ET) are rare clonal myeloid neoplasms associated with an increased risk of both venous and arterial thrombosis. Thrombotic complications are the main determinant of morbidity and in a less extend mortality. Routine haemostasis analysis (TP, aPTT) are usually normal and are useless to demonstrate a hypercoagulable state. However, previous evidence suggests that global coagulation tests such as thrombin generation or thromboelastometry are able to detect signs of procoagulant imbalance in MPN. Similarly, current data seems to demonstrate that fibrin clot properties (clot permeability, turbidimetry, clot lysis time) properties is altered suggesting an hypercoagulable state. Goals of PV and ET treatments are to control blood count to reduce the risk of thrombotic events. Moreover, new drugs such as Janus Kinase Inhibitors (JAKi) were recently licensed for PV and are under investigations on clinical trial for ET. It is currently unknown if treatments that were used for ET and PV, and especially JAKi are able to modify the hypercoagulable state that is observed in those diseases, and if there is difference between drugs. To evaluate impact of MPN treatment on prothrombotic haemostatic profile, we propose to evaluate global coagulation and fibrin clot properties in MPN, depending on the treatment.

This was an analytical and descriptive, non-interventional, retrospective cohort study of PV patients aged ≥ 18 years in the US using a secondary data source, Optum EHR database.

The prospective multicenter observational cohort study will be offered consecutively to any patient with primary or secondary myelofibrosis or with Polycythemia Vera who has initiated therapy with ruxolitinib, prescribed as part of the normal course of care and completely independent of study participation. The main purpose is to assess adherence to ruxolitinib using the ARMS questionnaire. Each individual patient will be administered the questionnaire at the first convenient opportunity, regardless of when ruxolitinib is started, and again after 4, 8, 12, 24, and 48 weeks, in conjunction with drug procurement.

The incidence of secondary cancer (SC) in patients with myeloproliferative neoplasms (MPN) is high and comparable to that of thrombosis. However, the identification of patient subgroups that might be at increased susceptibility of developing SC has not been systematically addressed. This international case-control study (MPN-K) is aimed to elucidate the prognostic role of JAK2V617F mutation in predicting the occurrence of SC in patients with classical MPN, polycythemia vera (PV), essential thrombocythemia (ET) and myelofibrosis (MF)

The purpose of this project is to find genes whose mutations cause Polycythemia Vera, Essential Thrombocythemia and Primary Myelofibrosis.

Chuvash polycythemia (CP) is a rare form of congenital polycythemia caused by mutations in the VHL gene. Currently, there are no therapies that have proven effective for CP. Recent studies have demonstrated that VHL (von Hippel-Lindau tumor suppressor) regulates the activity of JAK2 (Janus kinase 2). In mouse models, inhibition of JAK2 reverses the CP phenotype. Therefore, the investigators hypothesize that JAK2 inhibition may have significant clinical benefits for CP patients.

Jakavi® therapy for polycythemia vera (PV) has so far been studied exclusively in clinical trials and at selected clinical trial centres. This observational study is intended to document the therapy of PV in daily practice with a broad patient population and a geographically representative selection of German centres (both hospitals and practices). The prospective mapping of daily practice reality is thus the main goal of this project.

Myeloproliferative disorders occur in families, thus giving rise to the theory that it is a genetic disease that may be caused by an abnormal gene in the DNA that can be passed from one generation of family members to another. DNA can be gathered from family members through blood samples and the investigators will investigate (through DNA testing) to see if there are abnormal genes that may be responsible for causing the MPDs. Understanding which genes are responsible for causing MPDs can help develop ways to identify people who may be at risk for developing an MPD, allow for the development of better treatments, possibly a cure, or even prevent the development of MPDs.

This is a clinical study to evaluate the effect of CMPN (Chronic myeloproliferative neoplasm) to the bone. The hypothesis is that patients with CMPN have a higher fracture-rate compared to the background population. We expect to find a lower BMD using conventional DXA scan (dual energy x-ray absorptiometry), and a change in other parameters using HR-pQCT (high-resolution peripheral quantitative computerized tomography).Biochemical bone markers is measured to support the hypothesis.