Active clinical trials for "Hemoglobinopathies"

The goal of this research study is to establish chimerism and avoid graft-versus-host disease in patients with hemoglobinopathies.

Deferiprone (DFP) is the most extensively studied oral iron chelator to date. It has been authorised in Europe in 1999 for the treatment of iron overload in patients with beta-thalassaemia major when DFO is contraindicated or inadequate. Despite a wide experience of DFP there are limited experimental data available on DFP in children and no pharmacokinetic data in children under 6 years of age. On the basis of the existing data in adults and adolescent, in the DEEP-1 trial a pharmacokinetic bridging model was developed to support the dose selection in children aged less than 6 years affected by transfusion dependent haemoglobinopathies. The study consisted of two phases, namely an experimental phase, during which patients received a single dose and a modeling phase, during which PK data obtained after single dose in patients < 6 years of age were analysed in conjunction with historical PK data in adults and older children and adolescents. The model-based analysis of the data obtained after single dose enabled the assessment of the dosing regimen required for the purpose of accurate pharmacokinetic bridging. The ratio between the predicted systemic exposure parameters (AUC and Cmax) in the target population and reference group were used as basis for recommendation of the dose in the target population.

To determine whether the regular daily administration of oral penicillin would reduce the incidence of documented infection due to Streptococcus pneumoniae in children with sickle cell anemia.

To reduce episodes of first time stroke by 75 percent in children with sickle cell anemia by the administration of prophylactic transfusion therapy.

The aim of this study is to determine the validity of Kleinhauer Betke in women with known hemoglobinopathy for fetal-maternal hemorrhage.

To date, allogeneic haematopoietic stem cell transplantation (aHSCT) is the only curative treatment for many paediatric and young adult haematological pathologies (acute leukaemia, myelodysplastic syndromes, haemoglobinopathies, bone marrow aplasia, severe combined immunodeficiency). Despite the major therapeutic progress made over the last 50 years, particularly in terms of supportive care, post-transplant morbidity and mortality remains high. Infectious complications, whose incidence varies between 30 and 60%, are the first cause of mortality in the immediate post-transplant period. In order to protect the patient from the occurrence of severe infectious episodes, aHSCTmust be performed in a highly protected environment (positive pressure chambers). This has implications for the experience and impact of hospitalization on the patient and family. This is particularly true in paediatrics, whether in children, adolescents or young adults, where it is not only the patient's quality of life that is at stake, but also their emotional and psychomotor development. In these patients, prolonged hospitalization (at least 6 weeks) in a sterile room will be responsible for physical deconditioning accompanied by a decrease in muscle mass, itself concomitant with undernutrition, and an increase in sedentary lifestyle. This prolonged hospitalisation in a sterile room, associated with myeloablative treatments, is therefore the cause of social isolation of patients, but it is also often synonymous with physical inactivity leading to a rapid decrease in physical condition, quality of life and an increase in fatigue. Today, the benefits of physical activity (PA) during and after cancer treatment have been widely demonstrated. The objective is to evaluate the feasibility of an adapted physical activity program during the isolation phase for achieving aHSCT in children, adolescents and young adults. This is a prospective, interventional, monocentric cohort study conducted at the Institute of Paediatric Haematology and Oncology in Lyon. The intervention will take place during the isolation phase and consists of an adapted physical activity (APA) program defined at inclusion, integrating supervised sessions with an APA teacher, as well as autonomous sessions. The program is individualized according to age, aerobic capacity, and PA preferences. Sessions are also tailored to the biological, psychological, and social parameters of patients. The total duration of the intervention is 3 months. To date, no PA studies have been performed in patients under 21 years of age requiring aGCSH during the sterile isolation phase. EVAADE will therefore be the first study in this population to offer an innovative procedure with a connected device.

Thiotepa is a chemotherapy drug used extensively in bone marrow transplantation. Thiotepa is a prodrug that undergoes metabolic conversion in the liver by CYP2B6 and CYP3A4 to its primary active metabolite, triethylene phosphoramide (TEPA). The goal of this study is to determine what causes some children to have different drug concentrations of thiotepa and TEPA in their bodies and if drug levels are related to whether or not a child experiences severe side-effects during their bone marrow transplant. The hypothesis is that certain clinical and genetic factors cause changes in thiotepa and TEPA drug levels in pediatric bone marrow transplant patients and that high levels may cause severe side-effects.

Progression of liver fibrosis in patients with hemoglobinopathies is strongly related to the severity of iron overload and the presence of chronic hepatitis C virus (HCV) infection. Effective iron chelation therapy and HCV infection eradication are efficacy to prevent liver complications. EASL and AASLD guidelines recommend interferon-free regimens for the treatment of HCV infection in patients with hemoglobinopathies. However, data regarding the use of direct-acting antiviral drugs (DAAs) in this patient population are very few This large, observational study evaluated the safety and efficacy of standard therapy with DAAs in a large Italian cohort of with hemoglobinopathies, chronic HCV infection and advanced liver fibrosis.

Melphalan is a chemotherapy drug used extensively in bone marrow transplantation. The goal of this study is to determine what causes some children to have different drug concentrations of melphalan in their bodies and if drug levels are related to whether or not a child experiences severe side-effects during their bone marrow transplant. The hypothesis is that certain clinical and individual factors cause changes in melphalan drug levels in pediatric bone marrow transplant patients and that high levels may cause severe side-effects.

Fludarabine is a chemotherapy drug used extensively in bone marrow transplantation. The goal of this study is to determine what causes some children to have different drug concentrations of fludarabine in their bodies and if drug levels are related to whether or not a child experiences severe side-effects during their bone marrow transplant. The hypothesis is that clinical and genetic factors cause changes in fludarabine drug levels in pediatric bone marrow transplant patients and that high levels may cause severe side-effects.