View clinical trials related to Drepanocytosis.
Filter by:Sickle-cell disease is one of the most common severe monogenic disorders in the world, it results in the synthesis of abnormal hemoglobin (HbS) instead of hemoglobin A. When deoxygenated, the sickle haemoglobin (HbS) polymerizes inducing the sickling of red blood cells (RBCs) and leading to decreased deformability and increased fragility. Therefore, sickle RBCs exhibit a reduced lifespan associated with intravascular hemolysis, hemolytic anemia and low tissue oxygenation. Sickle RBCs, which exhibit abnormal adhesive properties to endothelial cells, can block the microcirculation, causing the occurrence of painful vaso-occlusive crisis (VOC), acute chest syndrome (ACS), acute and chronic organ damage (heart, lung, liver, spleen, kidney, bone…) and shortened life span. A preliminary study performed on RBC from sickle cell patients (Hb SS) has shown an alteration of a parameter measuring the overall deformability of RBCs by evaluating the nature of their movement in a shear flow. This parameter is significantly lower in sickle cell patients in steady state compared to a population of healthy individuals. The parameter is also significantly lower in sickle cell patients during VOC when compared to patient in steady state. The main objective of this study is to evaluate the performance of the method for measuring the deformability of RBCs on an experimental prototype. Measurements will be performed on blood samples from subjects with a normal hemoglobin electrophoretic profile, from heterozygous carriers of sickle cell disease and from patients with sickle cell disease. Samples from paediatric patients will also be tested to study any specificity in comparison to adult subjects.
Sickle cell disease (SCD) is an inherited blood disorder. Symptoms include acute and chronic complications. Due to progress in SCD care, patients with SCD are living longer than before and we focus more attention in chronic complications. Children with SCD experience worse cognitive functions than healthy children, and fewer is known about cognitive functions in adults. Studies suggest lower cognitive performance in SCD, mostly in executive functions and processing speed, but the biological and anatomical substrates of cognitive decline are not yet well established in SCD. Often times, cognitive impairments and cerebral disorders are not diagnosed and treated in adults with SCD. The main objective of this study is to propose a deep neuropsychological assessment in adults with SCD and cognitive complaints and to highlight links between cognitive functions and clinical, biological and neuroradiological markers. The hypothesis of this study is that cognitive functions are associated with severity of the SCD, with bood abnormalities, with MRI markers and Transcranial Doppler (TCD) markers of cerebrovascular disease. The secondary objective of this study is to validate a brief cognitive assessment tool (BEARNI tool) in adults with SCD. This study is an observational cross-sectional study that will enroll adults with SCD and cognitive complaint.
In the early years of life and during adolescence, physical activity is crucial for good development of motor skills. It is even more so for those children and young people who are forced to undergo anti-cancer therapies and therefore undergo long periods of hospitalization (often bedridden) and prolonged periods of physical inactivity. The research project "Sport Therapy" was born with the aim of demonstrating that, through targeted physical activity administered by the sports physician in collaboration with the pediatrician hematologist, it is possible to facilitate the full recovery of these patients, avoiding the high risk of chronic diseases related to a sedentary lifestyle and allowing them to better reintegrate, once healed, in their community of origin (school, sport and social relations). The research project "Sport Therapy" was born within the Maria Letizia Verga Center at the Pediatric Clinic of the University of Milan Bicocca, at the Foundation for the Mother and Her Child, San Gerardo Hospital in Monza. Every year, around 80 children and adolescents with leukemia, lymphoma or blood disorders leading to bone marrow transplantation are treated here.
Three methods are actually used in newborn screening for sickle cell disease (SCD) in France: isoelectric focusing, high performance liquid chromatography and capillary electrophoresis. New technologies are currently under development such as Matrix Assisted Laser Desorption Ionisation - Time of Flight (MALDI-TOF) and tandem mass spectrometry (MS/MS) using the SpOtOn Diagnostics Reagent Kit available in United Kingdom only. Zentech company (Liège, Belgium) is developing a package for SCD newborn screening using MS/MS technology. The main objective of the present study will be to compare this new technique with the technique actually used in the hospital center of Lille (sub-contractor for SCD newborn screening of Lyon) and the haemoglobin analysis to test its accuracy (sensitivity and specificity).