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Mutation clinical trials

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NCT ID: NCT05864937 Completed - Mutation Clinical Trials

C677T Methylenetetrahydrofolate Reductase Mutation

C677T
Start date: December 1, 2011
Phase:
Study type: Observational

To investigate the effect of anticoagulant treatment on pregnancy outcomes in patients with previous recurrent miscarriages (RM) who carry a methylenetetrahydrofolate reductase (MTHFR) gene mutation. In this longitudinal retrospective study, patients with RM were treated during pregnancy with either: (i) 100 mg/day aspirin and 5 mg/day folic acid (group 1); or the same protocol plus 0.4 mg/day enoxaparin (group 2). An age-matched group of triparous women without RM or thrombophilia was used as the control group (group 3).

NCT ID: NCT04068961 Completed - Mutation Clinical Trials

New Strategies of Genetic Study of Patients With Oculocutaneous Albinism

GENALB
Start date: September 15, 2010
Phase:
Study type: Observational

The oculocutaneous albinism is an autosomal recessive condition associated with mutations in 4 genes. In 20% of patients no mutation is identified. The optimization of genetic analysis methods and the search for new genes involved will help improve the diagnosis in these patients.

NCT ID: NCT02884063 Completed - Clinical trials for Genetic Diseases, Inborn

Utilizing Free DNA in Embryo Culture for PGT

Start date: May 2015
Phase:
Study type: Observational

In the way for developing and optimizing protocol to be used as non- invasive methodology used as routine testing for PGS. This protocol is to be adapted to replace the using of life embryo cells for genetic testing and aneuploidy study as well as for any type of genetic testing including single gene disorder or HLA typing or study.

NCT ID: NCT02808715 Completed - Obesity Clinical Trials

Identification and Metabolic Characterization of a Cohort of Human Subjects With Mutations in PRDM-16

Start date: May 2014
Phase: N/A
Study type: Observational

Chinese male subjects will be invited to participate in a research study of brown fat, a special tissue in the body that is designed to burn energy to make heat. The objective is to learn the importance of a gene called "PRDM-16" for the function of brown fat. Subjects were selected as a possible subject in this study because they fulfil the age and weight criteria. 500 subjects from the Singhealth Investigational Medicine Unit healthy volunteer database will be recruited over a period of 2 years. All of the subjects will have their PRDM-16 gene sequenced. The objective is to identify subjects with mutations, or changes, in their PRDM-16 gene. About 12 subjects with PRDM-16 mutations are expected to be identified. Samples of blood obtained during the course of this study will be stored and analysed only for the purposes of this study for a period not exceeding 2 years, and will be destroyed after completion of the study, unless subject is agreeable to donate the samples to the National Heart Centre Singapore for continuous storage for future studies that are approved by the institutional review board..

NCT ID: NCT02612350 Completed - Neoplasms Clinical Trials

Utility of Plasma Circulating Tumor DNA (ctDNA) in Asymptomatic Subjects for the Detection of Neoplastic Disease

H1000
Start date: November 2015
Phase:
Study type: Observational

Pathway Genomics Corporation (Pathway Genomics), a San Diego, California company, is involved in the development and validation of new molecular diagnostic assays for the analysis of circulating tumor deoxyribonucleic acid (DNA) (ctDNA) found in the plasma-derived DNA (cell-free DNA or cfDNA) in order to identify specific variants (mutations) in cancer driver genes. The purpose of testing for mutations in ctDNA is to detect and monitor cancer. All cells shed DNA into the bloodstream. Finding cancer-associated mutations in the cfDNA may lead to early detection of cancer in an otherwise apparently healthy (i.e. asymptomatic) individual or may allow the healthcare provider to more effectively monitor and treat a known cancer patient. The analysis is performed using a polymerase chain reaction (PCR)-based methodology where oligonucleotides are designed to target specific mutations in designated genes of interest followed by next generation deep sequencing of the amplified targets. Evaluation of the performance of these assays for screening for cancer in asymptomatic subjects is essential for the clinical validation of the use of these assays. The specific aim of this protocol is to obtain relevant human blood samples from individual subjects at higher than average risk for the development of cancer due to age, heredity, or environmental or toxic exposures for use in the statistical analysis of this method as an adjunct screening test for the potential presence of cancer.