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Chromosome Aberrations clinical trials

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NCT ID: NCT02278536 Completed - Trisomy 21 Clinical Trials

Multiple Gestation Study

Start date: March 2013
Phase:
Study type: Observational

The objectives of the clinical study are to demonstrate the accuracy of our new NATUS diagnostic method to determine the genetic health of the developing fetuses in a multiple gestation pregnancy from a maternal blood sample. The long term goal of this study will be the development of a method of minimally invasive prenatal diagnosis that has a higher sensitivity and lower false positive rate in the intended population (e.g. multiple gestation pregnancies) than any currently available screening tests. This will result in fewer unnecessary amniocenteses and CVS procedures, which are associated with a risk of miscarriage.

NCT ID: NCT02109770 Completed - Trisomy 21 Clinical Trials

Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNA

Microdel Triad
Start date: October 2012
Phase:
Study type: Observational

The purpose of this study is to collect blood from families with a child who has been diagnosed with a chromosomal disorder including microdeletions in order to further develop a non-invasive prenatal screening test based on fetal DNA isolated from maternal blood.

NCT ID: NCT01884610 Completed - Clinical trials for Chromosome Aberrations

Study on the Impact of Stem Cell Donation and Bone Marrow Harvesting on Unrelated Donors

Start date: September 2008
Phase: N/A
Study type: Observational

Granulocyte Colony Stimulating Factor (GCSF) is used extensively as a means of mobilising donor peripheral blood stem cells as an alternative to bone marrow harvesting for the purpose of recipient stem cell transplantation. The principal objective of the research is to study any longterm genetic effects of GCSF in the peripheral blood white cells of unrelated blood stem cell donors. The study subjects will be Retrospective and Prospective voluntary unrelated donors on the Anthony Nolan Bone Marrow Registry being harvested at the Royal Free Hospital and University College Hospital, London and British Bone Marrow Registry donors harvested at the Royal Free Hospital and BUPA Glen Vale in Bristol. All participants in the Prospective Arm will be asked to donate one 5−10ml sample of blood at study entry prior to stem cell donation and further samples at 120 and 360 days post donation. Those found to carry aneuploid cell clones at these time points will be asked for a further 5−10ml blood sample at least twice − at the end of 24 months and 36 months respectively. The Retrospective and Positive Control group will be asked to supply one 5−10ml sample of blood.

NCT ID: NCT01852708 Completed - Trisomy 21 Clinical Trials

Development of Non-invasive Prenatal Screening Test for Microdeletions Based on Fetal DNA Isolated From Maternal Blood

MAPS
Start date: November 2012
Phase:
Study type: Observational

The purpose of this study is to collect maternal blood samples from pregnant women carrying a fetus with a confirmed diagnosis of chromosomal abnormality or genetic disorder including microdeletions in order to further develop a non-invasive prenatal screening test based on fetal DNA isolated from maternal blood.

NCT ID: NCT01620853 Completed - Clinical trials for Non-small Cell Lung Cancer (NSCLC)

Detection of Chromosomal Aberrations in Non-small Cell Lung Cancer (NSCLC) Using Fluorescent in Situ Hybridization (FISH) (ALK Test)

Start date: May 2012
Phase: N/A
Study type: Observational

The purpose of the study is the identification of chromosomal aberrations in non-small cell lung cancer (NSCLC) . The imaging system is intended for diagnostic use as an aid to the pathologist in the detection, counting and classifying ALK FISH stained lung samples.

NCT ID: NCT01574781 Completed - Clinical trials for Sex Chromosome Aberrations

Non-invasive Prenatal Diagnostic Validation Study

NIPD
Start date: September 2011
Phase: N/A
Study type: Observational

The primary purpose of this study is to collect maternal blood samples from pregnant women to develop a non-invasive prenatal diagnostic test based on fetal DNA isolated from maternal blood.

NCT ID: NCT01426308 Completed - Clinical trials for Post-natal Cytogenetics

Method Comparison and Clinical Specificity Study: Evaluation of the Infinium HD Cytogenetic Abnormality Test

Start date: August 2011
Phase: N/A
Study type: Observational

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.

NCT ID: NCT01264744 Completed - Bladder Cancers Clinical Trials

Detection of Chromosomal Aberrations in Urine Samples Using Fluorescent in Situ Hybridization (FISH) (UroVysion Test)

Start date: November 2009
Phase: N/A
Study type: Observational

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.

NCT ID: NCT00915785 Completed - Clinical trials for Myelodysplastic Syndromes

Azacytidine for the Treatment of Myelodysplastic Syndromes/Acute Myeloid Leukemia (MDS/AML) With High Risk (Chromosome 7 and or Complex) Cytogenetic Abnormalities

Start date: November 2005
Phase: Phase 2
Study type: Interventional

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.

NCT ID: NCT00795795 Completed - Clinical trials for Chromosomal Abnormalities

Preimplantation Genetic Screening in Women of Advanced Maternal Age

Start date: December 2008
Phase: N/A
Study type: Interventional

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.