44 Clinical Trials for Various Conditions
The Helix Research Network ("HRN") is a network of academic, public, and/or private healthcare organizations that are committed to advancing medical research and improving human health through large-scale genomics research and acceleration of the integration of genomic and other omics data into clinical care.
This research is being done to develop the electronic platform Nest for young adults (ages 18-39) who have had prior cancer genetic testing. The platform will give patients and their clinicians access to continuously updated information about both pathogenic variants and variants of uncertain significance (VUS). The name of the intervention used in this research study is: Nest portal (electronic platform for patients and clinicians)
The goal of this sequential study design is to increase genetic testing in those meeting national clinical guidelines. The main question it aims to answer is: which intervention is most effective in uptake of genetic testing for the target population? Participants will receive genetic testing and counseling that may initiate life-saving screenings.
Alzheimer's disease is a devastating neurodegenerative disease characterized by accumulation of clumps (also called plaques) and bundles of fibers (also called tangles) in the brain, for which there is currently no cure. Sirolimus is an FDA-approved medication which may improve the blood flow to the brain. Part I: This study is designed to see if sirolimus treatment improves MRI blood flow to the brain in individuals with and without a genetic predisposition to Alzheimer's disease. Part I of this study is complete and no longer enrolling participants. Part II: Ongoing research will expand the genetic predisposition cohort and further explore the drug's impact on the lung perfusion via hyperpolarized xenon-129 gas MRI and the brain-vascular connection. Only subjects who are APOE4 carriers will be enrolled in Part II. Hyperpolarized xenon-129 gas MRI is a non-invasive technique in which a subject inhales a bolus of hyperpolarized xenon-129 gas which can be directly imaged by the MRI as it physiologically distributes itself throughout the lung interior and within tissue and red blood cells. It thus allows for direct imaging and quantification of regional lung function: ventilation, gas-exchange, and perfusion. The relationship between pulmonary vascular function and brain perfusion is largely unstudied. We hope to investigate the relationship between pulmonary vascular function and cerebral blood flow by quantifying both lung and brain perfusion before and after the administration of Sirolimus.
The overall goal of this study is to reduce breast cancer morbidity and mortality disparities among African American women by actively engaging family history as a tool to modify screening regimens and enhance communication between women and their providers. Therefore, this rationale is reflected the project title: "You cannot change your family history, but you can change what you do with it: A peer-based education program to reduce breast cancer risk in African American women" This study will develop and test an educational curriculum that highlights the importance of knowing family history and sharing it with health care providers. The curriculum will include tools to gather family history and discuss it with providers to guide the delivery of care. The investigators will assess the effectiveness of the curriculum in group and one-on-one settings and when delivered by a Patient Ambassador (peer train-the trainer model) or a researcher. The specific objectives of the study are to: Obj. 1: Develop a CBPR-based curriculum- using a community based participatory research (CBPR) approach, that highlights the importance of family history as a risk factor for breast cancer that includes tools to collect family history information and discuss it with providers to enable a family history based screening regimen. Obj. 2: Train Patient Ambassadors- Patient Ambassadors, women from the community who act as community messengers to deliver the curriculum. Obj. 3: Pilot Implementation and Extensive Evaluation of the Curriculum- Assess two modes of delivery, group vs one-on-one, and Peer Ambassadors vs. a researcher. Obj. 4: Dissemination- of the curricular products, implementation pilot results, and implementation guides for communities and practices- via publications and other channels in preparation for grant submits to enhance the program.
This research study is exploring the use of genomic sequencing in the newborn period to screen healthy babies for current and future health risks. The study will enroll a diverse cohort of 500 healthy infants and their parents from Boston, MA; New York City, NY; and Birmingham, AL. A small blood sample will be collected from each infant, and whole genome sequencing will be performed in 1/2 of the cohort following a randomized controlled trial design. 3 months later, the randomization status and sequencing results will be shared with parents and pediatricians. Investigators will study the medical, behavioral, and economic outcomes of genomic sequencing to better understand how this technology can be implemented in outpatient primary care settings.
The purpose of this study is to examine the role of the bacterial environments and metabolites in the early detection and prediction of ovarian cancer development. Vaginal swabs and stool samples will be collected from healthy volunteers, or those without a known ovarian cancer diagnosis or genetic ovarian cancer risk. These samples will be compared to samples from participants with increased cancer risk and ovarian cancer diagnoses.
This study will provide rigorous evaluation of implementing a virtual genome center into community clinical settings without highly specialized resources, thereby offering generalizable insights as to how best to implement genomic medicine at scale and for other age groups. This intervention has great potential to address disparities in genomic medicine among low-income and underrepresented minority (URM) populations and will enhance capacity for providers and health systems to utilize highly specialized genomic techniques in their communities. The goal of this study is to achieve equitable access to state-of-the-art genomic medical care to sick newborns in community centers that predominately care for low-income and racial/ethnic minority populations through the creation of a virtual genome center (VIGOR). VIGOR will provide a venue for physician and family education, genomic expert consultation, reanalysis of unsolved sequencing data, and access to cutting edge therapeutic innovation, thereby facilitating institutionalization of genomic best practices in community settings, and not just highly specialized referral centers.
The investigators propose to genotype males and females at age 40 years and older, who are asymptomatic and without known heart disease (N=2000). DNA from a blood sample will be genotyped for millions of genetic risk variants for CAD by Baylor College of Medicine Human Genome Sequencing Center Clinical Laboratory (HGSC-CL) in a CLIA-approved laboratory. The overall objective after 2 years is to determine if genetic screening for risk of CAD in asymptomatic men and women has the discriminatory power to detect those at highest risk who would potentially benefit most from appropriate primary prevention. It will also determine whether the GRS is appropriate for different ethnic and race groups such as Hispanics, African Americans and Whites, and to what extent those individuals knowing that they are at higher risk, are more likely to seek further advice on management of the risks (either through changes in lifestyle or therapy).
This study aims to define the natural history of men at high genetic risk for prostate cancer on the basis of specific germline genetic mutations, family history, or Black/African ancestry and evaluate the utility of prostate MRI as a screening tool. The hypothesis is that this targeted population of men are at elevated risk of developing prostate cancer compared to the general population, and enhanced screening with MRI will enable early detection and diagnosis of potentially aggressive prostate cancer, characterization of the penetrance of specific mutations, and potentially identify new genetic risk mutations.
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.
The PopSeq Project is a prospective cohort study that will develop and implement a genomic return of results (gRoR) process in the Framingham Heart Study (FHS) and Jackson Heart Study (JHS) cohorts and explore associated medical, behavioral, and economic outcomes. The study will interpret the genomic sequences of JHS/FHS participants previously sequenced by TOPMed who have consented to genomic return of results and/or genetic testing. We will develop and apply new methods for scalable screening/ classification of genomic variants and will explore genomic penetrance by phenotyping a subset of participants in the FHS and JHS.
The main objective of this study is to apply a well-established model of developmental surveillance (which evolved to characterize the outcomes of very low birth weight infants) to infants with genetic disorders. A novel clinical model for infants with rare genetic disorders has been created as a joint initiative between the Division of Newborn Medicine's NICU Growth and Developmental Support Programs (NICU GraDS) program and the Division of Genetics at Boston Children's Hospital (BCH). This study plans to enroll patients with genetic syndromes seen in this clinic into a prospective, longitudinal study in order to characterize their developmental profiles and needs.
To evaluate an alternative clinical genetics cancer care delivery model, using non-genetic providers to introduce and order genetic testing. 250 prostate and 250 pancreatic patients will be recruiting. They will undergo genetic testing and complete study questionnaires. Results from this pilot study will be used to inform the strategies used by the Clinical Risk Evaluation Program (CREP) Genetic Counelors (CGS) and GI/GU physicians to deliver genetic testing and return genetic risk information to patients with prostate or pancreatic cancer.
The study "Investigating the Feasibility and Implementation of Whole Genome Sequencing in Patients With Suspected Genetic Disorder" is a research study that aims to explore the use of whole genome sequencing as a potential first line genetic test for patients for which a genetic diagnosis is suspected. This is an internally funded research study. The investigators will enroll 500 participants who are being seen in one of the various genetics clinics within the Partners HealthCare system for a suspected genetic disorder for which standard-of-care genetic testing is ordered. At the time of their standard-of-care genetic testing, an extra blood sample will be collected, and genome sequencing may be performed. Within 3-4 months, patients learn if they received genome sequencing or not, and any results are returned and explained. Investigators are also studying the experiences of both participants and their providers to better understand how to implement genome sequencing into clinical care.
The NYCKidSeq program will significantly advance the implementation of genomic medicine, particularly for children, young adults and their families in Harlem and the Bronx. The study will assess the clinical utility of genomic medicine in three broad areas of pediatric disorders, while engaging a range of providers and community advisors to overcome the well-documented barriers to inclusion of underserved and underrepresented populations in genomic research. The study will also include testing, analyzing, and implementing a novel communication tool, Genomic Understanding, Information and Awareness (GUÍA), to facilitate the return of genomic test results. The use of GUÍA will enhance the understanding of these genomic testing results by families, patients, and care providers at all levels of expertise, in two health systems. Healthcare system leadership will be engaged to provide insights into their readiness for genomic implementation. Overall, the NYCKidSeq program will inform the genomics and clinical communities about how to implement genomic medicine in a diverse population in a clinically useful, technologically savvy, culturally sensitive, and ethically sound manner.
Identifying biomarkers of early pancreatic ductal adenocarcinoma (PDAC) could facilitate screening for individuals at higher than average risk and expedite the diagnosis in individuals with symptoms and substantially improve an individual's chance of surviving the disease. The investigators propose a longitudinal study of subjects at higher than average risk of PDAC in order to generate clinical data and bank serial blood specimens.
The MilSeq Project is a nonrandomized, prospective pilot study of whole exome sequencing (WES) in the U.S. Air Force. The purpose of this study is to explore the implementation of WES into clinical medical care in the military health system.
The Genomic Sequencing for Childhood Risk and Newborn Illness (the BabySeq Project) is a research study exploring the use of genomic sequencing in newborns. The National Institutes of Health is funding this study. The investigators will enroll 240 healthy infants and their parents from the Brigham and Women's Hospital (BWH) Well Newborn Nursery and 240 sick infants and their parents at Boston Children's Hospital (BCH) or the BWH Neonatal Intensive Care Unit (NICU). A small blood sample will be collected from each infant and genome sequencing may be performed. Six weeks later, results are returned and explained. Over 12 months the investigators are studying the experiences of parents and pediatricians of infants who receive sequencing to help understand how best to use genomics in pediatric care.
Currently, many breast center patients with a positive family history receive information about BRCA testing after breast cancer diagnosis, typically after definitive breast surgery or at a time point that does not allow them to use testing results in making their surgical decision. Diagnostics, decisions and interventions are often out of sequence, resulting in test information not available in time for decisions. Tests are often repeated. Decisions and interventions are delayed, are not understood by breast cancer patients or proceed without the test information, resulting in suboptimal care and resource waste (Donaldson MS. 2005, Katz SJ 2007, IOM 2001). In this study, BRCA testing information will be delivered to patients at the point of breast imaging. For patients that are diagnosed with breast cancer, this provides ample time to use the test results in making their surgical decision, if they elect to be tested. The investigators will work with health care providers to insure family history data are collected at the breast imaging visit, develop a standardized BRCA patient education handout, enlist health care providers to insure the information is delivered to the appropriate patient population, and coordinate scheduling with genetic counseling services to insure patients are promptly seen. The investigators hypothesis is that an intervention of providing patients indicated for genetic/familial risk with timely information and opportunity to access genetic counseling during breast imaging will shift BRCA testing to before definitive breast cancer surgery, for patients with a breast cancer diagnosis, and could impact surgical decisions. The investigators will identify barriers to this intervention from the perspective of patients, physicians, nurses, and genetic counselors. The investigators will then adjust the intervention to overcome the barriers and will test the intervention at the point where genetic/familial risk assessment based on NCCN guidelines is (or should be) conducted at breast imaging. If indicated, patients will be provided information and will be referred to genetic counseling to consider BRCA tests.
This study aims to identify genetic causes of adverse events after cardiac surgery, such as atrial fibrillation, myocardial infarction, renal dysfunction and heart failure. Patients undergoing heart surgery at Brigham and Women's Hospital and Texas Heart Institute are eligible to participate.
This is a registry for patients who have a risk-reduction mastectomy ("prophylactic mastectomy") due to being at high risk for developing breast cancer, followed by breast reconstruction. Eligible patients include those who have a breast cancer-related gene, a strong family history of breast cancer, or a personal history of high-risk conditions such as cancer in the other breast or ductal carcinoma in situ (DCIS). Patients are enrolled in the registry before surgery, and are followed for up to ten years afterwards. In addition to studying medical outcomes, we will periodically survey patients for quality-of-life issues and psychological well-being. There is no compensation for being enrolled in this registry. This registry is conducted through the Department of Plastic Surgery at Georgetown University Hospital, and is a sub-registry to the Fisher Familial Cancer Registry at the Lombardi Comprehensive Cancer Center at Georgetown University.
The goal of this observational study is to find out what factors affect the health and risks in adults with glioblastoma (GBM), a grade 4 brain cancer. The main questions it aims to answer are: * How do genetic and immune system factors impact survival and quality of life in GBM patients? * What occupational and medical history factors are linked to the risk of getting GBM? Participants will: * Fill out an online survey about their medical history and lifestyle. Participants will have the chance to give a blood sample (from the outer arm) for genetic and immune system testing. Blood samples will be given using a home collection kit provided by the study team.
The Trial to Reduce IDDM in the Genetically at Risk (TRIGR) is an international effort to conduct a primary prevention nutrition trial for type 1 (insulin-dependent) diabetes. The TRIGR study was targeted at newborns who are at genetic risk for type 1 diabetes because their mother, father and/or full sibling has type 1 diabetes. All families were encouraged to breast feed their infants for as long as possible. Prior to birth, the child was randomly assigned to receive one of two infant formulas, should formula be required prior to 8 months of age. The study determined whether weaning to a possibly protective infant formula decreases these children's chances of developing diabetes - as it does in the animal models for diabetes.
The purpose of this study is to describe the genetic contribution to the neural tube defects spina bifida (SB) and anencephaly (A), which includes identifying patients, defining the roles of certain genes, and studying gene-environment interactions.
Background: Some genetic diseases put increase the risk of heart and blood diseases, which are the number one cause of death and disability in the U.S. Researchers want to study diseases of the heart and/or blood vessels. They want to collect data and specimens from affected people, their family members, and healthy people. Objective: To study diseases of the heart and/or blood vessels. Eligibility: People age 2 and older who may have genetic disease affecting the heart and/or blood vessels Their relatives Healthy volunteers Design: Participants will be screened with a medical history, physical exams, and imaging tests. Participants may have a few visits or visits for 2 weeks or more. This will depend on their age and disease status. Visits may include: Photographs of the face and body Heart tests Samples taken of blood, urine, saliva, skin, and/or tissue Scans. For some, a dye may be injected into a vein. A six-minute walk test Lung tests. For some, participants will blow into a tube. For others, they will breathe in a gas from a mask, have a small injection, then have a scan. Stress tests while walking on a treadmill or riding a stationary bike Ultrasound of veins and arteries Devices outside the body testing the stiffness and function of arteries Eye exam and eye tests. For some, a dye may be injected in a vein. Blood pressure tests Measurements of blood flow under the skin and in the arms and fingernail blood vessels Devices outside the body testing flexibility of the blood vessels and skin, and skin temperature
Pursuing very early diagnosis is standard of care for several diseases including colon cancer, diabetes and liver disease where an early and aggressive diagnostic and therapeutic approach has been shown to change their natural history. Crohn's disease \[CD\] still lags since commonly at presentation CD has already run a long course, often responding poorly to therapy or requiring surgery. This innovative project proposes a minimally invasive strategy - capsule endoscopy-based screening of first degree relatives \[FDR's\] of CD patients - to develop tools to diagnose CD at or near its biologic onset.
Every year, approximately 9,000 Parkinson disease (PD) patients undergo deep brain stimulator (DBS) placement into the subthalamic nucleus (STN-DBS). Studies suggest that PD patients with mutations in the glucocerebrosidase (GBA) gene are at high risk for cognitive impairment and approximately 10-17% of subjects undergoing DBS carry GBA mutations. There may be an interaction between STN-DBS, which also impairs cognitive function, and GBA, resulting in worsened cognitive function. This project will 1) determine the relationship between GBA mutation status and post-operative STN-DBS cognitive function, 2) broaden genotype-phenotype relationships of GBA mutation carriers and 3) provide scientific knowledge regarding the longitudinal cognitive effects of DBS in GBA mutation carriers through repeated neuropsychological testing.
Background: - The purpose of this study is to identify changes in genes that cause human diseases. We would like to obtain some of you or your child s DNA and test for changes in genes that may contribute to a disease in you or your family. Objective: -To allow for exomic or genomic sequencing of NICHD patients or family members in order to identify changes in genes that cause or contribute to a specific disease. Eligibility: * Children who are enrolled in an NICHD clinical study where the condition being studied may have a genetic cause. * Family members of a child who is eligible for this study. Design: * Children and family members will supply DNA samples. If the samples are already available, no further DNA will be needed. * If DNA is not available, samples of either blood or skin will be taken. * We will use these samples with new DNA sequencing technology that looks at all the human genes we know about. This is known as exome and genome sequencing.
RATIONALE: Chemoprevention is the use of certain drugs to keep cancer from forming. The use of celecoxib may keep polyps and colorectal cancer from forming in patients with familial adenomatous polyposis. PURPOSE: This randomized phase I trial is studying the side effects and best dose of celecoxib in treating young patients with a genetic predisposition for familial adenomatous polyposis.