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Genetic Predisposition clinical trials

View clinical trials related to Genetic Predisposition.

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NCT ID: NCT06226194 Recruiting - Metabolic Syndrome Clinical Trials

Genetic Susceptibility to Predict Weight Loss After Bariatric Surgery

GENBASU
Start date: March 15, 2024
Phase:
Study type: Observational [Patient Registry]

Obesity is a complex chronic disease, in which both genetic and environmental factors are involved, that shows a great heterogeneity in the response to different weight loss programs. Identifying patients as responder or no responder to the different obesity treatment options is a concept of great interest, both due to the high prevalence of obesity and its high consumption of resources. More than 500,000 surgeries are performed every year around the world, of which approximately 30% will present unsatisfactory results. The general objective is to carry out a multi-omics approach for the discovery and validation of markers of weight response to bariatric surgery (BS) in a large sample of people with severe obesity (n=6,966 men and women who underwent sleeve gastrectomy or gastric bypass, including an additional external validation set). Thus, the investigators want to know the integrated contribution of several genomic markers (Genome Wide Association study, GWAs), new clinical and analytical variables (human exposome concept) and gender perspective to the prediction of response to the intervention at 12 month and its long-term longitudinal maintenance (3 years). The investigators intend, therefore, to provide new evidence to advance towards precision medicine. The investigators will focus our attention also on identifying those patients who, after being classified at the weight loss nadir as responders experienced weight regain.

NCT ID: NCT06212310 Completed - Clinical trials for Genetic Predisposition

Genetic Counseling Service Delivery and Outcomes in Diverse and Underserved Populations

Start date: February 1, 2022
Phase: N/A
Study type: Interventional

This 2-arm prospective, randomized, controlled clinical trial compared outcomes of telephone genetic counseling (intervention) versus in-person genetic counseling (control) in an underserved, multilingual patient population referred for cancer genetic counseling at two North Texas safety-net hospitals. The main question[s] it aims to answer are: - Is telephone genetic counseling equal to in-person genetic counseling in the patient reported outcomes? Cancer genetics knowledge, attitude towards GT, and informed choice as well as GC-specific empowerment. - Is telephone genetic counseling-based clinical outcomes the same as in-person genetic counseling for visit completion and testing rates? Participants will be randomized to either in-person or telephone genetic counseling arm and complete standard of care genetic counseling visit process where testing is offered. Both arms will complete a series of surveys to assess the outcomes of interest.

NCT ID: NCT06089421 Not yet recruiting - Clinical trials for Genetic Predisposition

Genetic Information Assistant in Telegenetics

Start date: October 20, 2023
Phase: N/A
Study type: Interventional

The goal of this clinical trial is to learn about different ways cancer genetic screening can be provided to rural communities in participants at high risk for certain cancers. The main question it aims to answer is: • Does receiving pre-genetic test education with a chat bot or genetic counselor affect if the participant decides to get genetic testing? Participants will: - have a pre-test genetic counselling session with a genetic counselor or the GIA chatbot - answer questions about their cancer genetic knowledge and how they are doing - provide a saliva sample for genetic testing to test for cancer gene mutations - have their genetic testing results provided to them. - have the option to share their genetic testing results with family members Researchers will compare how many participants who had pre-genetic counseling with the chatbot received genetic testing to how many participants who had pre-genetic counseling with a genetic counselor received genetic testing.

NCT ID: NCT06060184 Not yet recruiting - Clinical trials for Genetic Predisposition

Initiative for Clinical Long-read Sequencing

IonGER
Start date: December 1, 2023
Phase: N/A
Study type: Interventional

The study aims to comprehensively introduce Long-read Genome sequencing (LR-GS) based genetic testing into clinical routine. In order to demonstrate the superiority of untargeted LR-GS over Short-read Genome sequencing (SR-GS) to establish firm genetic diagnoses, the investigators will rely on a multi-center "Translate Nationale Aktionsbündnis für Menschen mit Seltenen Erkrankungen" (Translate National Action Alliance for People with Rare Diseases Germany, TNAMSE) cohort of unsolved patients with neurological, neurodevelopmental, and imprinting disorders that is expectedly enriched for complex genomic variation. Within the framework of genomDE, the investigators will then implement, for the first time, LR-GS in the diagnostic work-up of a prospective cohort of patients with a broad range of clinical indications including rare diseases and cancer predisposition.

NCT ID: NCT06003153 Recruiting - Type 2 Diabetes Clinical Trials

GLUCOSE-MGH: Genetic Links Understood Through Challenge With Oral Semaglutide Exposure at MGH

GLUCOSE-MGH
Start date: March 12, 2024
Phase: Phase 4
Study type: Interventional

The goal of this research study is to evaluate the pathophysiologic mechanisms by which genetic variation impacts response to an FDA-approved medication commonly used to treat diabetes and obesity called oral semaglutide (Rybelsus) and to characterize the physiological response to a mixed meal tolerance test (MMTT) before and after a 14-day treatment with Rybelsus. The effect of oral semaglutide (Rybelsus) on human beings is similar regardless of whether the person taking them has diabetes or not. The investigators will do this by measuring factors in the blood, such as sugars, fats, metabolites, and proteins, after eating a standardized breakfast meal at the first visit and after taking 14 doses of oral semaglutide (Rybelsus) over two weeks before the second study visit. The food (mixed meal breakfast) we will be studying is specially prepared to contain a set amount of protein, carbohydrates, and fat. The investigators hypothesize that understanding how the acute biochemical response to oral semaglutide differs by genetic variation will generate insight into drug mechanisms and Type 2 Diabetes pathophysiology.

NCT ID: NCT05975489 Completed - Caffeine Clinical Trials

Genetics in the Effect of Caffeine on Fat Oxidation

Start date: October 1, 2020
Phase: N/A
Study type: Interventional

Genetic polymorphism on the effect of oral caffeine intake on fat oxidation during exercise has been studied in active and healthy population performing an incremental test on a cycle ergometer with 3-min stages at workloads from 30 to 70% of maximal oxygen uptake (VO2max). Participants performed this test after the ingestion of a) placebo; b) 3 mg/kg of caffeine; c) 6 mg/kg of caffeine. Fat oxidation rate during exercise was measured by indirect calorimetry. The influence of the CYP1A2 c.-163A>C, GSTP c.313A>G and PGC1a polymorphisms was evaluated to determine the effects on fat oxidation during exercise

NCT ID: NCT05929976 Recruiting - Clinical trials for Acute Lymphoblastic Leukemia

InterNatIonal CHildhood Leukemia Microbiome/MEtabolome Cohort

NICHE
Start date: October 26, 2022
Phase:
Study type: Observational

Nutritional status is a measurable and modifiable factor that is often not considered during treatment and its clinical impact undervalued due in part to the heavy demands on clinicians in low and middle income countries to deliver therapy to large numbers of patients. The proposed study will create a biobank of clinical data and biological specimens which will foster future studies on cancer progression and prognosis as well as toxicities during treatment which may impact survivorship and late-effects. Eligible patients must be between 3 years and 18 years of age at time of assent/consent, have newly diagnosed B- or T-cell acute lymphoblastic leukemia or mixed phenotype acute leukemia confirmed by pathology report, and must be receiving treatment at one of the participating centers. Patients receiving hematopoietic cell transplant will be excluded. Institutions were selected to ensure representation of several global health indicators related to nutritional status and wealth classification according to the World Bank. Data related to demographic variables (socioeconomic status, food security), lifestyle habits (diet, physical activity), nutritional anthropometrics (height, weight and arm anthropometry), and nutritional biological indices (stool and blood) will be collected at designated timepoints throughout treatment and one year after the end of treatment.

NCT ID: NCT05857670 Recruiting - Breast Cancer Clinical Trials

Psyco Quality of Life and Procreation BRCA1/2

QoL
Start date: May 31, 2022
Phase:
Study type: Observational [Patient Registry]

Women with breast and/or ovarian cancer or with a family history carried these pathologies can makeo genetic counseling in order to investigate whether they are carriers of the BRCA1/2 genetic mutation. This mutation exposes them to develop breast cancer from 50 to 80% and from 27 to 65% of developing ovarian cancer. BRCA1/2 mutations are inherited as an autosomal dominant manner and therefore there is a 50% probability of transmitting the mutation to the progeny. For this reason, women who have BRCA 1/2 mutation may be less likely to want children than those who test negative. The decision to have children could worry both for the probability to transfer the genetic mutation or because the parenthood could be compromised by the illness and/or by premature death. In previous studies, the psychological condition of patients with BRCA 1/2 mutations, with or without children, was only partially investigated. For this reason the main goal of the study is to deeply investigate the specific psychological condition, with particular attention to the guilt feelings on the possibility to transfer the genetic mutation to the progeny. In this wai it could be useful to development a therapeutic strategies aimed at the best adaptation of the patients to the new health condition.

NCT ID: NCT05849155 Recruiting - Clinical trials for Genetic Predisposition

Barriers and Facilitators of Parent-Child Communication in Children With Cancer Predisposition

Start date: December 12, 2023
Phase:
Study type: Observational

Testing children, adolescents, and young adults (CAYA) for a genetic risk for cancer can help with early prevention and detection of cancers through regular follow-ups and medical care. After receiving genetic test results, CAYA may not accurately understand what their results mean, and parents are often unsure about talking with their CAYA about their genetic risk for cancer. By understanding how parents communicate with their CAYA, the investigators can improve future genetic education to reduce cancer risk. Primary Objectives: - Identify qualities of parent-CAYA (child, adolescent, and young adults) communication about CAYAs' genomic cancer risk, and their association with CAYAs' psychosocial and prevention outcomes. - Examine the association between sociodemographic, cancer-related, and psychosocial factors and parent-CAYA communication regarding CAYAs' genomic risk for cancer. - Identify barriers and facilitators of parent-CAYA communication regarding CAYAs' genomic risk for cancer.

NCT ID: NCT05771454 Completed - Breast Cancer Clinical Trials

Frequency of Occult Breast Cancer After Prophylactic Mastectomy Among High-Penetrance Breast Cancer Gene Positives

OBC-PM
Start date: January 1, 2023
Phase:
Study type: Observational

The role of Sentinel Lymph Node Biopsy(SLNB) among mutation-negative BC patients is well established; however, we are lacking data to assess the role of sentinel lymph node biopsy for patients who are undergoing surgery for prophylactic reasons without proven malignancy. Literature has reported a positive Occult Breast Cancer (OBC) rate of 0 to 11.3% among mastectomy specimens which are removed prophylactically. Majority of the time when the invasive focus is diagnosed in prophylactic mastectomy specimens they are found to be in-situ cases where axillary Staging using SLNB can be exempted; however, when the OBC is identified even in prophylactic mastectomy specimens, axilla should be addressed accordingly. Albeit SLNB has associated complications with it; postoperative pain, lymphedema, paresthesia and rare reaction to the injected dye. Therefore the question here arises regarding skipping SLNB among patients who are undergoing PRRMs without proven malignancy pre-operatively. However, before standardizing the practice in our population we need convincing evidence that the frequency of OBC is low among our patients. By identifying the true prevalence of OBC among our gene-positive HBC patients who are opting for PRRM, we would be able to skip SLNB; as not only it has psychological implications but also adds a financial burden on patients and families due to the addition of an extra procedure and hospital bills; as the financial and socioeconomic status of our population has already declined over last few years due to the economic crises faced worldwide, specifically after-affects are seen in Lower Middle-Income Country(LMIC) like Pakistan.