Active clinical trials for "Genetic Predisposition to Disease"

Implant-based reconstruction is currently the most common choice for mastectomy reconstruction. Whatever the choice of mastectomy incision, a scar remains on or near the breast volume. Current techniques involve partial or total coverage of the implant with the pectoralis major muscle, to prevent exposure or infection. The muscle dissection technique applied has functional and cosmetic consequences. In this study, an endoscopic approach will be evaluated. This new surgical technique, using a single-port endoscopic way, will put the scar is in the axillary area, away from the breast. The hypothesis is that this delocalized scar potentially reduces the risk of exposure and allows placement of the implant in the subcutaneous space, with no manipulation of the pectoralis major muscle.

This study aims to determine the effects of communicating genetic risk for type 2 diabetes (T2D) alone or in combination with goal setting and prompts from a wearable device on objectively measured physical activity (PA) and sedentary behavior (SB) in East Asians. It is hypothesized that this combination will lead to significant favorable changes in objectively measured PA and SB, and that such changes will be more likely to be sustained over 6-month follow-up. This study aims to recruit 150 healthy East Asian adults in Hong Kong. At baseline, participants will be invited to visit the research laboratory for measurement of a series of variables including height, body weight, blood pressure and grip strength. Participants will also be invited to complete a set of questionnaires to assess their self-reported PA and SB, fruit and vegetable consumption, smoking status and psychological variables. Blood samples will be collected to analyze key diabetes and cardiovascular disease biochemical markers as well as their estimated genetic risk of T2D. Each individual's unique genetic risk for T2D will be estimated on the basis of established genetic variants associated with T2D specifically for East Asians. Each participant will be asked to wear a Fitbit Charge 4 tracker, an objective activity monitoring device, throughout the entire trial. Participants will be randomly allocated into 3 groups: 1 control and 2 intervention groups. A control group will receive an e-leaflet containing general lifestyle advice for prevention of T2D. An intervention group will receive an estimated genetic risk of T2D, in addition to the e-leaflet. The other intervention group will have a Fitbit step goal set 10% higher than their baseline step count and use prompt functions of the Fitbit tracker, in addition to the genetic risk estimate and e-leaflet. Activity data from the Fitbit will be collected at 4-week post-intervention; information about lifestyle and psychological variables will be assessed through the questionnaires at both immediate and 4-week post-intervention. To determine the longer-term effect of the intervention, participants will be asked to visit the research laboratory 6 months after the intervention to repeat the same set of assessments as baseline, except the blood samples collected at 6-month follow-up are used only to analyze cardiometabolic risk profiles (not genetic risk). Activity levels will also be objectively measured using the Fitbit for 4 weeks.

This is a prospective genetically-stratified randomized double-blind event-driven multicentre clinical trial to assess the efficacy of posaconazole-based antifungal prophylaxis allocation strategies for patients with acute myeloid leukemia who receive induction chemotherapy. Allocation strategy based on an invasive mold infection genetic risk will be double-blinded.

Background: Communication of information about risk of type 2 diabetes (T2D) alone has not been associated with changes in habitual behaviors among individuals of European ancestry. In contrast, the use of wearable devices that monitor physical activity (PA) has been associated with changes in behavior in some studies. It is uncertain whether risk communication might enhance the effects of wearable devices. We aim to assess the effects on wearable-device-measured PA of communicating genetic risk for T2D alone or in combination with goal setting and activity prompts from a wearable device among overweight or obese East Asians. Methods: In a parallel group, randomized controlled trial, a total of 355 overweight or obese East Asian individuals aged 40-60 years will be allocated into one of three groups: 1 control and 2 intervention groups. Blood samples will be used for estimation of T2D genetic risk and analysis of metabolic risk markers. Genetic risk of T2D will be estimated based on 113 SNPs associated with T2D among East Asians using an established method. All three groups will receive a Fitbit device. Both intervention groups will be given T2D genetic risk estimates along with lifestyle advice, but one of the intervention groups will additionally use Fitbit's step-goal setting and prompt functions. Questionnaires and physical measurements will be administered at baseline, immediately after intervention delivery, and 6 and 12-month post-intervention following standard operating procedures. The primary outcome is time spent in moderate-to-vigorous PA measured through the Fitbit. Secondary outcomes include other parameters of wearable-device-measured PA, sedentary time, and sleep, body mass index, systolic and diastolic blood pressure, five intermediate metabolic risk markers, hand grip strength, self-reported PA, self-reported fruit and vegetable consumption and smoking status, and a list of psychological variables. Discussion: This study will be the first randomized controlled trial using the combination of communication of T2D genetic risk with standard functions of wearable devices in any population. Findings will inform strategies to prevent T2D through lifestyle modification.

5 to 10% of cancers are due to the presence of a constitutional genetic alteration. It can be inherited from parents (family form) or by accident, in the first moments of life after fertilization (sporadic form). In both cases, this genetic alteration is constitutional and transmissible to descendants. It is hereditary. When an hereditary early form is suspected, several well-known genes generally involved in genetic predispositions to cancer are found by a technique called " gene panel ". However, this analysis does not always identify the genetic predisposing factors for cancer. New techniques called "high-throughput exome sequencing (SHD-E)", allow more than the analysis of the the gene panel. These analysis allow to identify alterations in other genes that could contribute to the development of cancer. The objective of the Ex²trican study is to show, from patients with early cancer (sporadic or familial form), that this approach to exome sequencing can be effective to identify new genetic risk of cancer, when the first panel analysis of genes is negative.

Reaction of the immune system and the body to a Coronavirus-19 (COVID-19) vaccination is so different and ultimately unpredictable has not yet been clarified. It is also not yet known why people who have been vaccinated react to a vaccination with sometimes serious side effects. Using high-throughput dissecting (analytical) methods with the suffix OMICS ("Multi-OMICS" methods, collective characterization and quantification of pools of biological molecules) used in this study on the basis of blood tests, data from several molecular levels can be recorded and a holistic picture can be created from this, which can depict the connections between these levels.

Develop and evaluate acceptability, feasibility, and preliminary efficacy of digital care plan and accompanying text message reminders for children and adolescents with a known Cancer Predisposition Syndromes (CPS).

The most common tissue expander-related infections are from Staphylococcus and Pseudomonas species. In addition, from breast tissue microbiome studies, Staphylococcus and Pseudomonas show variable abundance across samples. The investigator hypothesizes that participants undergoing mastectomy with high initial abundance of Staphylococcus and/or Pseudomonas are more likely to develop subsequent tissue expander-related infections from these respective organisms.

This study aims to identify the optimal method to recognize, risk stratify, and provide follow-up care for individuals at risk of hereditary cancer. The study team will conduct a Hybrid Type II comparative effectiveness-implementation trial, with a mixed methods component and process/formative evaluations for stakeholder engagement. The study team will evaluate three methods for identifying and risk-stratifying individuals at risk of hereditary cancer and providing post-risk stratification longitudinal care.

Living donor (LD) kidney transplantation is the optimal treatment for patients with end-stage kidney disease (ESKD). However, LDs take on a higher risk of future ESKD themselves. African American (AA) LDs have an even greater, 3.3-fold, risk of ESKD than white LDs post-donation. Because evidence suggests that Apolipoprotein L1 (APOL1) risk variants contribute to this greater risk, transplant nephrologists are increasingly using APOL1 testing to evaluate LD candidates of African ancestry. However, nephrologists do not consistently perform genetic counseling with LD candidates about APOL1 due to a lack of knowledge and skill in counseling about APOL1. Without proper counseling, APOL1 testing will magnify LD candidates' decisional conflict about donating, jeopardizing their informed consent. Given their elevated risk of ESRD post-donation, and AAs' widely-held cultural concerns about genetic testing, it is ethically critical to protect AA LD candidates' safety through APOL1 testing in a culturally competent manner to improve informed decisions about donating. No transplant programs have integrated APOL1 testing into LD evaluation in a culturally competent manner. Clinical "chatbots," mobile apps that use artificial intelligence to provide genetic information to patients and relieve constraints on clinicians' time, can improve informed treatment decisions and reduce decisional conflict. The chatbot "Gia," created by a medical genetics company, can be adapted to any condition. However, no chatbot on APOL1is currently available. No counseling training programs are available for nephrologists to counsel AA LDs about APOL1 and donation in a culturally competent manner. Given the shortage of genetic counselors, increasing nephrologists' genetic literacy is critical to integrating genetic testing into practice. The objective of this study is to culturally adapt and evaluate the effectiveness of an APOL1testing program for AA LDs at two transplant centers serving large AA LD populations (Chicago, IL, and Washington, DC). The APOL1 testing program will evaluate the effect of the culturally competent testing, chatbot, and counseling on AA LD candidates' decisional conflict about donating, preparedness for decision-making, willingness to donate, and satisfaction with informed consent. The specific aims are to: Adapt Gia and transplant counseling to APOL1 for use in routine clinical practice Evaluate the effectiveness of this intervention on decisional conflict, preparedness, and willingness to donate in a pre-post design Evaluate the implementation of this intervention into clinical practice by using the RE-AIM framework to longitudinally evaluate nephrologist counseling practices and LDs' satisfaction with informed consent. The impact of this study will be the creation of a model for APOL1 testing of AA LDs, which can then be implemented nationally via implementation science approaches. APOL1 will serve as a model for integrating culturally competent genetic testing into transplant and other practices to improve patient informed consent.