Active clinical trials for "Genetic Predisposition to Disease"

Hypnosis is an effective pain management tool for surgery that can reduce opioid use up to 40%. COMT single nucleotide polymorphisms (SNPs) can predict pain sensitivity and opioid use perioperatively, and may also be associated with hypnotizability or response to hypnotic analgesia. Analyzing COMT haplotypes from DNA extracted from saliva or blood using a giant magnetoresistive (GMR) nanotechnology platform may be faster, less expensive, and at least as accurate as pyrosequencing. This study aims to validate a multi-SNP point-of-care (POC) GMR assay for the rapid genotyping of SNPs predictive of COMT activity, and test the feasibility of using COMT activity as a biomarker for hypnotizability and/or response to hypnotic analgesia.

The aim of the project is to show that gene expression levels change in at least one of the GATA6 and T-box transcription factor 3 (TBX3) genes in indirect inguinal hernia sacs, thus revealing that this pathway causes an error in the sac closure pathway. Indirect inguinal hernia is an important condition for human health as it is common in the community and can lead to life-threatening or permanent loss of function. In addition, since the treatment is performed surgically, the follow-up and treatment process of the patients should be managed carefully in terms of complications and costs. By explaining the mechanisms of the occurrence of this disease, important steps will be taken in terms of both human health and the development of science. Moreover, the data to be collected may open new horizons in the treatment of inguinal hernia. 20 inguinal hernia patients those consecutively applied to Trakya University Medical Faculty Department of Pediatric Surgery and 20 circumcision patients as control group will be included in the study.

Case control on thyroid cancer occuring in a cohort of 7300 subjects treated during their childhood, mostly by radiotherapy, for a skin Angioma at Gustave Roussy, Villejuif France between 1947 and 1973. This case control study, which is included in a larger european project, aims to investigate the DNA variant interacting with the risk of radiation induced thyroid cancer after irradiation. The sutdy is planed to include about 30 cases and 30 controls. Matching criteria are date of birth, gender, and age at irradiation.

This is a prospective, single-center, clinical study.This study is to evaluate the feasibility of genetic susceptibility screening based on the detection of tumor tissue mutations by a NGS panel.

VISAGE-ONCO study is a qualitative transversal study aiming to identify and describe processes and mechanisms that explain in cancerology the feelings and experience of patients and health professionals with regard to the possibility of having access to secondary findings generated by the use High-speed exome sequencing . Semi-structured interviews will be conducted with patients and health professionals to answer this aims from 2 situations. The first situation is in the context of the standard practice for theranostic purposes, where somatic and constitutional analysis of the various genes involved in carcinogenesis is carried out systematically in parallel. Patients are informed that the analysis of these genes may reveal the existence of a genetic predisposition to another type of cancer than the one for which patients have consulted, with a risk for themselves or their relatives, which could modify their management. This targeted information on genetic predisposition genes to cancer is therefore provided as part of standard management for theranostic purposes, but without any detailed exploration of the reasons why patients wanted to be informed. The second situation is in the framework exome analysis position in the strategy of genetic redisposition factors identification in early-onset cancer study (EX²TRICAN NCT04141462) where all the genes identified in human pathology are part of the analysis. Patients have the possibility of accessing a result concerning a gene that may or may not be linked to a hereditary cancer risk if patients have ticked off in the consent form the wish to be informed. Therefore, two distinct questions arise: That of understanding the wish of patients to be given back actionable data which can be identified in a fortuitous way within the framework of standard management for theranostic purposes and in EX²TRICAN, by taking into account the fact that these data can constitute an opportunity for the patient in terms of management; but patients also constitute a risk of transmission for they relatives, and a psychological risk by the anxiety generated; The wish to have access - or not - to data which are not actively sought today within the framework of standard care for theranostic purposes and in EX²TRICAN (genetic alterations increasing the risk of cardiovascular or metabolic diseases), but which could be proposed in a systematic way in the future because of their actionable character.

Invasive bacterial infection is a dangerous but relatively uncommon disease where bacteria spread deep into the body causing diseases like blood poisoning ('bacteraemia'), pneumonia, meningitis and others. The various bacteria of the streptococcus family are an important cause, often leading patients to require intensive care despite which, for some strains, one in five patients die. One notable form is called necrotising fasciitis, a condition where bacteria rapidly spreads through and destroys the layers of tissue just under the skin. As individuals vary greatly in their risk of developing such serious infections, investigating how the genome, the inherited blueprint of our bodies, of these patients differs from that of healthy volunteers can help to explain why the disease develops in some and not others. For some streptococcal bacteria such as Streptococcus pneumoniae this approach is already proving successful; for others such as the "Group A" strain (Streptococcus pyogenes) it has yet to be explored but carries excellent potential. The investigators have secured the support of the Lee Spark Necrotising Fasciitis Foundation to recruit from their membership survivors of streptococcal infections and some of their family members. The investigators will also ask infection specialists from NHS hospitals to invite patients they have looked after. The investigators also have a small existing collection. Taking part would involve registering information on a website, discussing the study on the telephone and then providing us with a sample of saliva from which the investigators can isolate DNA. The investigators would prepare the sample for analysis of the genome and compare the patients with both their family and an existing reference collection from healthy volunteers using technology that reads the DNA code. Our study will be a first key step in renewing efforts to understand the determinants of invasive streptococcal infection, which is important for developing better treatments and vaccines.

Not many studies examined genetic determinants of obesity in women. As pre-menopausal and post-menopausal women appear to have different propensities for fat deposition, genetic loci linked with obesity-related phenotypes might be different by menopausal status. So far, there is no large scale of genetic study deciphering common obesity focusing on women population to examine the contributions of aging and change in menopausal status to obesity in Taiwan. The investigators propose this study to compare phenotypic profiles of obesity and cardio-metabolic factors in pre-menopausal and post-menopausal women. The study will examine the contributions of aging and change in menopausal status to the changes of obesity-related traits during the transition from pre-menopause to post-menopause period, and will evaluate the contribution of genetic susceptibility on body fat deposition among women at different stage of menopause.

The aim of this study is to identify genetic loci,or gene variations contributing to inflammation and to the development of CHD. We will compare coronary angiogram results to genetic findings within coronary artery disease patients and in patients with normal coronaries.

NHP referred to our outpatient clinic will be enrolled (150 newly recruited) in acute saline test for phenotype characterisation of PNat relationship(7). For each patient we will collect urine and blood samples for standard clinical biochemistry, including electrolytes, creatinine, EO, aldosterone, plasma renin activity, urinary uromodulin (ELISA), urinary and serum uric acid and blood samples for genetic test.

Atherosclerotic cardiovascular disease is the major cause of morbidity and mortality in Western societies. It is a complex genetic disorder with many genes involved and significant gene-environment interactions. The aim of the study is to identify novel genetic- and biological-markers of atherosclerosis. Atherosclerosis is assessed in the coronary arteries using coronary angiography as well as in the carotid artery (intima-media-thickness) and peripheral vessels (ankle brachial index). Association analysis of genetic and metabolic markers with atherosclerotic burden will be performed to identify novel factors of disposition to atherosclerotic vascular disease.