View clinical trials related to Chromosome Disorders.
Filter by:This clinical study will demonstrate the accuracy of the chromosomal aberration and gene mutation markers of the AMLProfiler molecular diagnostic assay and generate clinical performance data to support a Pre-Market Approval (PMA) submission to the Food and Drug Administration for in vitro diagnostic use within the United States of America. The objective is to demonstrate the positive and negative percent agreement of each marker by comparing AMLProfiler results from multiple clinical participating sites with data generated using a laboratory developed bi-directional sequencing method generated at the molecular diagnostic reference lab. The AMLProfiler assay is a qualitative in vitro diagnostic test for the detection of AML or APL specific chromosomal aberrations (specific recurrent translocations and inversions), as well as expression of specific genetic markers in RNA extracted from bone marrow aspirates of patients with Acute Myeloid Leukemia.
The study will determine the performance of the Infinium HD Test. - The primary objective of the study is to assess the performance of the Infinium HD Test using banked DNA samples extracted from whole blood patient samples derived from the intended use population. - The secondary objective of the study is to determine the background number of chromosomal abnormalities per person in the general population based on the resolution of the Infinium HD Test.
The purpose of the study is the identification of chromosomal aberrations in urine samples. The imaging system is intended for diagnostic use as an aid to the pathologist in the detection, counting and classification of UroVysion FISH stained Urine samples.
The purpose of this study is to assess the hematological and cytogenetic responses with 5 azacytidine in patients over 55 years of age with MDS/AML due to chromosome 7 abnormalities and to assess the hematological and cytogenetic response rates in patients with relapsed AML and chromosome 7 abnormality.
The overall significance of this study is to develop a laboratory developed test (LDT) to use a new marker in the maternal blood to better identify pregnancies that have a child with a chromosome abnormality such as Down syndrome (trisomy 21), Edward's syndrome (trisomy 18), Patau syndrome (trisomy 13), Klinefelter syndrome, (47, XXY), and other chromosome abnormalities. Accomplishing that task would reduce the need for invasive amniocentesis and CVS procedures.
An increased incidence of aneuploid pregnancies has been reported in women of advanced maternal age, with higher miscarriage rates. Cytogenetic studies in preimplantation embryos have shown elevated aneuploidy rate, particularly in women over 38 years. For these reasons, PGS has been applied to these patients to improve ongoing implantation rates, and most importantly, to decrease the risk of further miscarriages and affected offspring. In the past two years, several RCT have raised the question whether PGS is benefitial or not in AMA patients. In our experience, PGS outcome in these patients offers higher ongoing implantation rates than the previously published in RCT studies, where no benefits for PGS were found. In these papers, poor technical skills, as well as unclear patients selection could explain the reported lack of PGS benefits. Therefore, the objective of the present RCT is to analyze the outcome of IVF cycles with and without PGS in two age groups: - Patients 38-39 years of age: 200 cyles per arm reaching embryo transfer should be performed - Patients 40-44 years of age: 120 cycles per arm reaching embryo transfer Sample size has been calculated according to our retrospective experience with higher differences in ongoing implantation rates between cycles with and without PGS in patients of 40-44 years of age. In all patients embryo transfer will be performed on day 5. In the PGS group one cell will be biopsy in embryos with ≥5 cells on day-3 and chromosomes 13, 15, 17, 18, 21, 22, X and Y will be analyzed in two rounds. In the third round, nuclei with undoubtful or non-conclusive results will be analyzed using subtelomeric probes.
The goal of this pilot project is to determine whether melatonin levels are disordered in patients with Smith-Magenis Syndrome (SMS) and whether melatonin treatment can correct abnormal circadian rhythms in SMS patients. In addition, the study investigates the effects of bright light in an elderly control population that exhibits low melatonin secretion.
Optimise genetic screening of human embryos using higher resolution techniques
Premature ovarian failure (POF) is known to be associated with an increased risk of ocular surface disease (dry eye), likely due to the reduction of both estrogens and androgens seen in this condition. From preliminary data, we suspect that women with Turners syndrome (45, XO), a genetic abnormality that affects sex hormone levels, are also at increased risk of ocular surface disease. Comparing POF and TS women may allow us to distinguish different mechanisms for ocular surface disease, due to the different etiologies of hormonal (estrogen and androgen) alterations posed by POF and TS.
In order to distinguish between clonal instability driven by imatinib in CML and actual changes with secondary clones induced by imatinib we would like to investigate the karyotype of non-CML patients treated with imatinib such as GIST patients.