View clinical trials related to Chromosome Aberrations.
Filter by:The presence of minimal residual disease (MRD) is an important prognostic factor for multiple myeloma, while copy number variation (CNV) is a widely accepted biomarker used for multiple myeloma (MM). Detecting MRD and monitoring clonal evolution by monitoring CNV using low-pass whole genome sequencing is promising due to its high analytical sensitivity. To evaluate the correlation between MRD detected by flow cytometry and low-pass whole genome sequencing, nearly 200 samples were collected for this study. We applied ultrasensitive chromosomal aberrations detection to detect CNV for each patient. The follow-up samples were then collected and sequencing used the same method.
This observational study aims to recruit pregnant women between 18 to 24 weeks of gestation to investigate the relationship between amniotic membrane thickness and fetal chromosomal abnormalities. The primary objectives are to establish whether a correlation exists between the measured thickness of the amniotic membrane and the presence of chromosomal abnormalities in the fetus, and to determine a cutoff value for amniotic membrane thickness that could indicate an increased risk of such abnormalities. Additionally, the study seeks to assess whether the inclusion of amniotic membrane thickness as a biomarker can enhance the detection rate of non-invasive prenatal testing (NIPT) and nuchal translucency (NT) for chromosomal abnormalities.
This is a phase II, open-label, prospective study of T cell receptor alpha/beta depletion (α/β TCD) peripheral blood stem cell (PBSC) transplantation for children and adults with hematological malignancies
Standard cytogenetics (CBA +/- FISH) is of diagnostic and prognostic interest in Ph- MPN. However, its value is limited by the low frequency of detected abnormalities. The development of tools to increase the sensitivity of detection of chromosomal alterations is therefore particularly adapted to these pathologies. Optical genome mapping (OGM) is a high resolution "long read" technique that allows the identification of structural and copy number variations at the whole genome level. Several recent studies suggest that OGM is a future tool for cytogenetic characterization of haematological disorders. Its ability to describe structural abnormalities, including balanced ones, represents a major advantage over currently used technologies. Thus, OGM seems to be the key tool for cytogenetics of haematological malignancies in the coming years, making it possible to replace, under certain conditions, not only karyotype and FISH, but CMA and even RT-MLPA for the search for fusion transcripts, thus filling in the gaps in these techniques while maintaining their advantages. To define the place of this technology in Ph- MPN, the investigators will perform a OGM analysis on patients with Ph-MPN for whom bone marrow exploration is scheduled. These results will be compared with those of standard cytogenetics (CBA +/- FISH).
This is a prospective randomised study of the evaluation of the clinical IVF results after invasive PGT-A embryo selection versus Non-invasive PGT-A assisted embryo selection in subfertile women.
This is a prospective randomised study of the evaluation of the clinical IVF results after time lapse assisted embryo selection versus Non-invasive PGT-A assisted embryo selection in subfertile women.
Observational study of 160 patients with sex-chromosome abnormalities and 160 matched controls. Blood, fat, muscle, skin, buccal swaps, urine will be collected and analyzed for DNA, RNA and methylation patterns. The goal is to associated genotype and epigenetic changes with the phenotype of patients with sex-chromosome abnormalities. Patients participate in questionaries, dexa-scan of bones, fibroscan of liver, ultra sound of testicles and blood will be analyzed for organ specific blood work as well as immunological and coagulation components.
The objective of this study is the development, implementation and management of a registry of patient data that captures clinically meaningful, real-world, data on the diagnosis, nature, course of infection, treatment(s) and outcomes in patients with complex disease globally.
Myelodysplastic syndromes (MDS) are chronic myeloid hemopathies characterized by ineffective hematopoiesis (with peripheral cytopenias) and which contrast with a marrow of normal richness. MDS is considered one of the four most common blood diseases. The incidence is estimated at 4,059 cases / year in 2012 with an average age of 78 years in men and 81 years in women (INCA report, Cancers in France in 2015). The incidence increases with lengthening of the lifespan. The main risk of MDS is transformation to acute leukemia in 30 to 40% of cases. Treatment options depend on clinical, hematologic and chromosomal abnormalities. The prognosis is considered to be at low or high risk of developing acute leukemia. This distinction will therefore have an impact on the therapeutic solution (s). MDS exhibit clinical, morphological and genetic heterogeneity. It is therefore necessary to form subgroups of patients to better understand the physiopathogenesis of this pathology. The constitution of a biocollection will make it possible to search for clinical and biological prognostic markers in order to identify patients progressing to acute myeloid leukemia.
The objective of this study is to explore whether non-invasive chromosome screening (NICS) can be used as an effective indicator for embryos selection besides morphology through a multicenter randomized controlled trial, by comparing the differences of live birth rate, pregnancy rate and miscarriage rate between the two groups of embryo selection by "NICS+ morphology" and embryo selection only by "morphology" in IVF cycle.