View clinical trials related to Sickle Cell Disease.
Filter by:This purpose of this study is to understand the differences between people who have a good response to deferasirox (exjade) compared to people who have a poor response to this medication when used for transfusion-dependent iron overload. The hypothesis is that patients with poor responses have physiologic barriers to deferasirox that may include absorption, pharmacokinetics of drug metabolism, hepatic clearance and/or genetic factors.
Acute chest syndrome (ACS) is a frequent and potentially life-threatening pulmonary illness. It is a complication of sickle cell disease and is the leading cause of death from this disease in adults. Several pathologic processes are recognized causes of ACS, including infectious diseases, hypoventilation secondary to chest pain, in situ thrombosis and pulmonary fat embolism. Inhaled nitric oxide (iNO) has been shown to be a pulmonary vasodilatator with minimal systemic effects and has also been shown to improve gas exchange in both animal and human acute lung injury (ALI). The combined effects of iNO gas of improving pulmonary ventilation to perfusion matching, reducing alveolar and systemic inflammation, modulate the course of acute chest syndrome, which combine the physiopathology of vaso-occlusive crisis and acute lung injury. We hypothesise inhaled NO will improve oxygenation and clinical outcome of sickle cell disease patients with acute chest syndrome.
Sickle cell disease (SCD), also known as sickle cell anemia, is an inherited blood disease that can cause organ damage, stroke, and intense pain episodes. A blood stem cell transplant is a treatment option for someone with a severe form of the disease. Prior to undergoing a transplant, people typically receive a conditioning regimen of high doses of chemotherapy and other medications to prepare the body to accept the transplant. A conditioning regimen that uses lower doses of chemotherapy and medications may be safer for transplant recipients. This study will evaluate the safety and effectiveness of blood stem cell transplants, using bone marrow from unrelated donors, in children with severe SCD who receive a reduced intensity conditioning regimen prior to the transplant.
This is a clinical trial of bone marrow transplantation for patients with the diagnosis of a genetic disease of blood cells that do not have an HLA-matched sibling donor. Genetic diseases of blood cell include: Red blood cell defects e.g. hemoglobinopathies (sickle cell disease and thalassemia), Blackfan-Diamond anemia and congenital or chronic hemolytic anemias; White blood cells defects/immune deficiencies e.g. chronic granulomatous disease, Wiskott-Aldrich syndrome,Osteopetrosis, Kostmann's syndrome (congenital neutropenia), Hereditary Lymphohistiocytosis (HLH); Platelets defects e.g.Congenital amegakaryocytic thrombocytopenia; Metabolic/storage disorders e.g. leukodystrophies,mucopolysaccharidoses as Hurler disease;Stem cell defects e.g.reticular agenesis, among many other rare similar conditions. The study treatment plan uses a new transplant treatment regimen that aims to try to decrease the acute toxicities and complications associated with the standard treatment plans and to improve outcome The blood stem cells will be derived from either unrelated donor or unrelated umbilical cord blood.
This study will determine eligibility for participation in research studies on blood disorders conducted by the National Heart, Lung and Blood Institute and the National Institute of Diabetes, Digestive, and Kidney Diseases. Healthy volunteers, patients with blood disorders under study by NHLBI and NIDDK and potential stem cell donors for patients with blood disorders who are 8 years of age and older may be eligible for this screening protocol. (Healthy volunteers who qualify for research protocols would serve as control subjects.) Participants undergo the following tests and procedures: Healthy Volunteers - Medical history, physical examination, blood tests and urine sample collection. - Buccal mucosa sample collection. (Cells are collected from the inside of the cheek by gentle scraping with a bristly brush.) - Bone marrow aspiration (only for volunteers 18 years of age and older). Potential Stem Cell Donor -Same as for healthy volunteers plus evaluations that may include electrocardiogram, echocardiogram, imaging studies (X-rays, CT scans, MRI scans and others), heart evaluation, and lung function tests. Patient with Blood Disorder - Same as for stem cell donors plus additional evaluations and treatments that may include radiation oncology evaluation, catheter placement, blood transfusions, kidney and liver biopsies. Short courses of drug treatment for induction of fetal hemoglobin in sickle cell patients, and/or iron chelation in patients receiving chronic red cell transfusions may be included as well.
The purpose of this study is to evaluate the FIM™ as a measure of daily function in children with sickle cell disease hospitalized with vasoocclusive pain. Currently, the standard for pain assessment is a rating of pain intensity, as determined by observation (for younger children) or self-report (for older children and adolescents). However, these measures of pain intensity are not effective in recurrent or chronic pain states, and in sickle cell disease in particular. Pediatric patients who are hospitalized with vasoocclusive pain often do not report a decrease in pain intensity; however, other indications of clinical status, such as ambulation, less use of opiates from the patient-controlled analgesia (PCA) pump, increased food intake, and transition to oral pain medication, signify that the patient may be improving. As a result of our inability to get an accurate picture of the patients' condition, we would like to have a summary of improvement that would reflect these changes in clinical status and reflect the reduced impact of sickle cell pain on the patient's life. In this study, we plan to evaluate a standardized functional assessment measure in pediatric patients with sickle cell disease. It is hypothesized that FIM™ scores will correlate with other indicators of clinical status, such as movement, quality of sleep, use of IV opiates from the patient-controlled analgesia (PCA) pump, and use of intravenous vs. oral pain medications. It is also hypothesized that the FIM™ will demonstrate adequate responsiveness to change in functional status within a 3-7 day hospitalization by a progressive increase in scores and associations with other indicators of clinical improvement.
Sickle cell disease (SCD) is the most common inherited disease of the world affecting African and Caribbean populations. SCD is caused by the homozygous inheritance of the gene for sickle hemoglobin (HbS). Most patients with SCD develop abnormal pulmonary function characterized by airway obstruction, restrictive lung disease, abnormal diffusing capacity, hypoxemia and pulmonary hypertension In healthy subjects, lung capillary blood volume (Qc) and membrane diffusing capacity (Dm) can be accurately measured by the nitric oxide-carbon monoxide (NO-CO) method. We propose to study, for the first time, lung capillary blood volume and alveolar membrane diffusing capacity, using the NO-CO method, in children with SCD aged of at least 6 years Early determination of lung function and pulmonary circulation in children with SCD is very important, not only for the understanding of physiopathologic mechanisms of the disease but also for a better therapeutic management of these children.
This study will determine whether niacin can improve blood flow in people with sickle cell disease, in which abnormal red blood cells interfere with blood flow to cause the disease symptoms. Niacin, a drug that has been used to increase HDL (good cholesterol) levels, improves blood flow in people without sickle cell disease. This study will see if it can do the same in people with the disease. Patients with sickle cell disease between 18 and 65 years of age may be eligible for this study. Candidates are screened with a medical history, physical examination, blood tests, echocardiogram and 6-minute walk test of exercise capacity. Participants have the following baseline blood flow studies: - Flow-mediated dilation (FMD): An ultrasound picture of the artery in the forearm is obtained. A blood pressure cuff is then placed on the upper arm and inflated for 5 minutes. After the pressure cuff is released, the ultrasound is repeated. - Peripheral artery tonometry (PAT): A sensor is placed on the subject s finger. The sensor puts pressure on the finger and measures blood flow. - Standard forearm blood flow test: Small tubes are placed in the artery of the forearm at the inside of the elbow. Saline is infused into one tube. Pressure cuffs are applied to the wrist and upper arm. A strain gauge (rubber band device) is placed around the forearm. When the cuffs are inflated, blood flows into the arm, stretching the strain gauge, and the flow measurement is recorded. Blood samples are collected from the tube in the artery to measure blood counts, proteins and other chemicals. At various times, small doses of the following drugs are administered through the tube in the vein: - Sodium nitroprusside causes blood vessels to dilate and increases blood flow to the heart. - Acetylcholine causes blood vessels to dilate and slows heart rate. - LNMMA decreases blood flow by blocking the production of nitric oxide. Blood flow is measured after each dose of the different drugs. There are rest periods between injections of the different drugs. Pictures of the forearm are taken during the studies using an infrared camera and computer. -Drug Treatment. Participants are assigned to take three 4-week courses of niacin or placebo. They return to the Clinical Center at the following intervals from the time they start the test drug for followup: - Weeks 2, 6 and 10: Brief medical history, review of medication side effects and blood tests. - Weeks 4 and 8: Physical examination, brief medical history, review of medication side effects and blood tests, repeat FMD and PAT blood flow studies and 6-minute walk test. - Week 12: Same as weeks 4 and 8 plus standard blood flow studies and echocardiogram.
Recent clinical and experimental data indicate that statins have effects beyond cholesterol lowering that may be beneficial in sickle cell disease by protecting the vascular endothelium. Statins have been shown to attenuate endothelial dysfunction through their anti-inflammatory, anti-oxidant and anti-thrombotic properties. This phase I/II dose-escalating trial is designed to assess the safety and potential clinical efficacy of oral simvastatin (Zocor)in adolescents and adults with sickle cell disease (SCD).
Sickle cell anemia and sickle cell thalassemia are frequent diseases among the israeli arab population. The purpose of this study is to assess the clinical characteristics of the patients in one arab village and the laboratory characteristics in the carriers of this gene based in the screening for pregnant women that is carried out in the population of northern Israel. The results can be useful in order to institute universal screening for sickle cell anemia in northern Israel.