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Gene Abnormality clinical trials

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NCT ID: NCT04751058 Completed - Gene Abnormality Clinical Trials

Genetic Profile in Patients With Aortic Syndrome

GEN-AOR
Start date: February 27, 2021
Phase:
Study type: Observational

The overall prevalence has increased significantly in the general population, which may be due in part to advances in diagnostic techniques, such as improved imaging techniques. Aortic dissection (AD) can cause sudden cardiac death (SCD). Approximately 95% of thoracic AAS are clinically "silent" until a life-threatening complication arises in an unpredictable manner and presents as sudden cardiac death. The peak incidence of death caused by aortic dissection occurs within 48 hours, therefore, timely diagnosis is essential and saves lives. We have traditionally associated as risk factors in patients with ASA long-term arterial hypertension, present in 66-75% of cases, smoking, dyslipidemia or atherosclerotic disease. Likewise, any condition that alters the structure of the aorta such as: collagen diseases, aneurysms, bicuspid aorta, and manipulation of the thoracic aorta (cardiac surgery, 18%, or percutaneous intervention that can injure the intima) is involved in ASA. In addition to the well-known hereditary syndromes that affect collagen (Marfan, Elher-Danlos ...) there is a clear familial aggregation: 13-19% of patients without identifiable syndrome have first-degree relatives with thoracic aortic aneurysms or ICD, something that has been called "thoracic aortic dissection and familial aneurysm syndrome." Notable achievements have been made in the discovery of genetic mutations associated with SAA and key regulatory molecules involved, including the extracellular matrix (ECM), cytoskeletal proteins, and the TGF-β signaling pathway. Identification of the causative gene is advantageous for both patients and their families, especially those who do not show symptoms. The specific underlying genotype could benefit the process of diagnosis, surveillance and surgery, with the aim of reducing morbidity and mortality

NCT ID: NCT04263935 Recruiting - Lymphoma Clinical Trials

Correlation Between Driver Gene Abnormalities and Clinicopathological Characteristics and Disease Prognosis in Lymphoma

Start date: January 3, 2019
Phase:
Study type: Observational

Correlation Between Driver Gene Abnormalities and Clinicopathological Characteristics and Disease Prognosis in Lymphoma

NCT ID: NCT04175002 Recruiting - Gene Abnormality Clinical Trials

Endometrial Heparin-binding Epidermal Growth Factor Expression

Start date: August 1, 2019
Phase:
Study type: Observational

Women with PCOS comprise a majority of fertility clinic attendees. Unfortunately, a high failure rate following fertility treatment was observed especially in obese women due to implantation failure. The local study on PCOS women has shown significant changes in an endometrial tumor - regulatory genes but not focusing on the endometrial implantation failure. Many previous attempts using human chorionic gonadotrophin (HCG) infused embryo, gonadotrophin agonist therapy or progesterone support aiming to improve implantation failure in the assisted reproductive technique still unable to enhance pregnancy rate beyond 40% despite a higher` fertilization rate up to 95%. There is still a research gap on what makes obese PCOS women prone to coincides with implantation failure. Endometrial component related to the expression of growth factors play an integral role in establishing cellular context necessary for successful pregnancy. Thus, a new fundamental knowledge on endometrial specific heparin-binding epidermal growth factor expression in the obese PCOS women is vitally important, not only to predict implantation failure but a potential therapy to improve pregnancy outcome.

NCT ID: NCT03192501 Recruiting - Cancer Clinical Trials

iCAGES-guided Precision Therapy for Cancers in Contrast to Standard Care or IHC-guided Theray

Start date: July 1, 2017
Phase:
Study type: Observational

This study prospectively evaluates whether the use of iCAGES (integrated CAncer GEnome Score) tool in guiding the treatment of advanced cancers is superior to current standard care or IHC-guided therapy in progress free survival (PFS),overall survival (OS),and improvement of life quality.

NCT ID: NCT03118869 Active, not recruiting - Asthma Clinical Trials

B2 Adrenergic Receptor Gene Polymorphism in Bronchial Asthma

polymorphism
Start date: April 1, 2017
Phase: N/A
Study type: Observational

The b2-adrenoceptor (b2AR) mediates the physiological responses in the airway, which include bronchodilation, bronchoprotection. The b2-adrenoceptor (b2AR) mediates the physiological responses in the airway, which include bronchodilation, bronchoprotection, Enhanced mucociliary clearance. The b2AR gene is located on chromosome 5q31-q32, a region that is genetically linked to asthma and related phenotypes. There are three best known polymorphisms in the coding region of the b2AR gene that can modulate the function of the receptor.

NCT ID: NCT02002117 Recruiting - Clinical trials for Non-small Cell Lung Cancer

Genotyping of Non-small Cell Lung Cancer

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

The logical next step is to integrate molecular profiling into the care of all patients with NSCLC.