491 Clinical Trials for Various Conditions
The overarching intention of the Eating Disorder Genetics Initiative 2 (EDGI2) is to increase sample size, diversity, and eating disorder phenotypes. The investigators are enrolling 20,000 new participants with anorexia nervosa (AN), bulimia nervosa (BN), binge-eating disorder (BED), avoidant/restrictive food intake disorder (ARFID), and controls in the US, Mexico, Australia, New Zealand, Sweden, and Denmark. A primary study goal is to enroll at least 30% of participants from underrepresented groups. Participants are asked to complete a series of questionnaires and submit a saliva sample for genotyping. The goal is to better understand eating disorders and how they relate to each other so that better treatments can be developed.
The purpose of this study is to validate a noninvasive prenatal diagnosis procedure for genetic conditions in the developing fetus by analyzing fetal genetic material present in the pregnant mother's blood.
The GAP Study is a prospective cohort study designed to comprehensively investigate genetic variations that may contribute to cancer development among individuals diagnosed with appendix/appendiceal cancer who are ages 18+ years.
The contribution of genetic risk factors to the development of focal dystonias is evident. However, understanding of how variations in the causative gene expression lead to variations in brain abnormalities in different phenotypes of dystonia (e.g., familial, sporadic) remains limited. The research program of the investigators is set to determine the relationship between brain changes and genetic risk factors in laryngeal dystonia (or spasmodic dysphonia). The researchers use a novel approach of combined imaging genetics, next-generation DNA sequencing, and clinical-behavioral testing. The use of a cross-disciplinary approach as a tool for the discovery of the mediating neural mechanisms that bridge the gap from DNA sequence to the pathophysiology of dystonia holds a promise for the understanding of the mechanistic aspects of brain function affected by risk gene variants, which can be used reliably for the discovery of associated genes and neural integrity markers for this disorder. The expected outcome of this study may lead to better clinical management of this disorder, including its improved detection, accurate diagnosis, and assessment of the risk of developing dystonia in family members.
The purpose of this study is to collect and store samples and health information for current and future research to learn more about the causes and treatment of blood diseases. This is not a therapeutic or diagnostic protocol for clinical purposes. Blood, bone marrow, hair follicles, nail clippings, urine, saliva and buccal swabs, left over tissue, as well as health information will be used to study and learn about blood diseases by using genetic and/or genomic research. In general, genetic research studies specific genes of an individual; genomic research studies the complete genetic makeup of an individual. It is not known why many people have blood diseases, because not all genes causing these diseases have been found. It is also not known why some people with the same disease are sicker than others, but this may be related to their genes. By studying the genomes in individuals with blood diseases and their family members, the investigators hope to learn more about how diseases develop and respond to treatment which may provide new and better ways to diagnose and treat blood diseases. Primary Objective: * Establish a repository of DNA and cryopreserved blood cells with linked clinical information from individuals with non-malignant blood diseases and biologically-related family members, in conjunction with the existing St. Jude biorepository, to conduct genomic and functional studies to facilitate secondary objectives. Secondary Objectives: * Utilize next generation genomic sequencing technologies to Identify novel genetic alternations that associate with disease status in individuals with unexplained non-malignant blood diseases. * Use genomic approaches to identify modifier genes in individuals with defined monogenic non-malignant blood diseases. * Use genomic approaches to identify genetic variants associated with treatment outcomes and toxicities for individuals with non-malignant blood disease. * Use single cell genomics, transcriptomics, proteomics and metabolomics to investigate biomarkers for disease progression, sickle cell disease (SCD) pain events and the long-term cellular and molecular effects of hydroxyurea therapy. * Using longitudinal assessment of clinical and genetic, study the long-term outcomes and evolving genetic changes in non-malignant blood diseases. Exploratory Objectives * Determine whether analysis of select patient-derived bone marrow hematopoietic progenitor/stem (HSPC) cells or induced pluripotent stem (iPS) cells can recapitulate genotype-phenotype relationships and provide insight into disease mechanisms. * Determine whether analysis of circulating mature blood cells and their progenitors from selected patients with suspected or proven genetic hematological disorders can recapitulate genotype-phenotype relationships and provide insight into disease mechanisms.
The goal of this study is to obtain specimens and data from individuals and their families with heterotaxy and related congenital heart defects in order to clarify the molecular genetics of this disorder. The knowledge gained from the analysis of this information will provide the basis for future genetic counseling as well as contribute to knowledge about the biology of normal and abnormal development of left-right anatomic asymmetry.
Background: - Coccidioidomycosis is caused by a fungus that grows in the southwest United States and parts of Mexico and South America. This disease is caused by breathing dust containing the fungus. It can lead to serious lung and breathing problems. Rarely, the fungus can infect other body parts. This is called disseminated coccidioidomycosis (DCM). If the fungus stays in the lungs for more than 6 months, it is called refractory coccidioidomycosis (RCM). People with DCM or RCM may have difficulty fighting off infection because of immune system problems. Researchers want to study the immune systems of people with DCM or RCM, to learn more about the disease and the best ways to treat it. They also want to learn more about the types of people that get DCM or RCM and about the fungus that causes it. Objectives: - To learn more about DCM and RCM, the fungus that causes these diseases, and the people who get them. Eligibility: - People over age 2 with DCM or RCM. Design: * Participants will be screened with a review of their medical records. * At the initial visit, participants will have: * Medical history and physical exam * Blood and urine tests. Some blood may be used for genetic testing. The samples will not include participants names. Participants will be notified only if the tests show something urgent about their DCM/RCM. Researchers think this sort of problem will be rare. * Questionnaire about their DCM/RCM * Sputum (mucus) collection. They will spit into a cup. * Participants will have 1 follow-up visit per year. They will have blood tests. They may have other procedures to treat their DCM/RCM.
The purpose of this research study is to examine whether specific genes (e.g. SLC16A11) affect how human beings respond to food and a medication that is commonly used to treat type 2 diabetes. The food the investigators will be studying is specially prepared to contain protein, carbohydrate, and fat. The drug the investigators are studying is metformin. The investigators hypothesize that physiological responses to the meal and to the medication will differ between carriers and non-carriers of genes associated with type 2 diabetes.
The Anorexia Nervosa Genetics Initiative (ANGI) is the largest and most rigorous genetic investigation of eating disorders ever conducted. Researchers in the United States, Sweden, Australia, and Denmark will collect clinical information and blood samples from over 13,000 individuals with anorexia nervosa and individuals without an eating disorder. ANGI represents a global effort to detect genetic variation that contributes to this potentially life-threatening illness. The goal of the research study is to transform knowledge about the causes of eating disorders to work toward greater understanding and ultimately a cure. If you have suffered from anorexia nervosa at any point in your life, you can help us achieve this goal. Your contribution would include a brief questionnaire and a blood sample. If you have never had anorexia nervosa, but still want to contribute, we invite your participation as well.
The goal of this project is to determine whether genetic information can be used to predict response to an internet-based treatment of depression. Several studies now indicate that completing an internet-based treatment for depression, called Deprexis, can significantly improve symptoms of depression. However, not everyone improves. The purpose of this study is to determine whether genetic profile can predict who is likely to improve.
Background: - Uveal coloboma is a condition where the eye does not form normally. It occurs early in the fetus s development during pregnancy. It can lead to different kinds of eye problems, including blindness. Uveal coloboma is part of a spectrum of developmental eye conditions that include anophthalmia and microphthalmia, typically referred to as "MAC". Several genes have been linked to MAC, but the cause of most causes are hard to find. Researchers want to study the genes of people who have MAC and genes from their close, unaffected relatives (such as parents and siblings). Objectives: - To study the genes associated with MAC. Eligibility: - Individuals at least 1 years of age who either have MAC or are an unaffected relative (such as a parent or sibling). Design: * Participants will have a physical exam and medical history. They will also have a full eye exam. * Participants with MAC may have other exams, such as imaging studies and hearing assessments. * All participants will also provide blood, cheek swab or saliva or DNA samples for genetic testing.
The SUGAR-MGH investigators are studying the influence of inherited gene variants on the response to two commonly prescribed type 2 diabetes medications, metformin and glipizide. They hypothesize that variants in genes that are associated with type 2 diabetes or related traits may impact the effect of anti-diabetic medications. In addition, physiological responses to an insulin secretagogue or an insulin sensitizer may shed light on the mechanism of action of reported genetic associations.
The PROGENI Family Study is part of a larger consortium that is studying a gene shown to be important in Parkinson's disease, called LRRK2. People who have a defect in the LRRK2 gene will often develop Parkinson's disease. Eligible participants will be asked to complete a single Study Visit at an affiliated research facility closest to their home.
HYPOTHESIS: The response to a given dose of morphine given via a spinal anesthetic for cesarean section will be affected by the genetics of the woman's mu-opioid receptor Most women undergoing elective cesarean section (CS) receive spinal anesthesia, and most receive a dose of preservative free morphine with the spinal anesthetic. Spinally-administered morphine provides 16-24 hours of high quality pain relief. The dose administered is usually 75-200 micrograms, but surprisingly few dose-response studies exist. The mu-opioid receptor (OPRM1 gene)is the site of action of endogenous opioid peptides and opioid analgesic drugs like morphine. There is a common genetic variant of this receptor at the 40th amino acid of the protein, with asparagine and asparate being present in different people. The less common variant (aspartate), present in 25-30% of the overall American population (higher in Asian populations, lower in Blacks) at codon 40 that has been shown in many studies to affect opioid analgesia. This will be a randomized, blinded study of 3 doses of spinal morphine (50, 100, 150 micrograms) given to women undergoing elective cesarean section at term pregnancy. 300 women will be studied (100 per dose). Blood will be obtained for genotyping of OPRM1 and other genes that may affect pain and analgesic responses. The primary outcome will be the amount of intravenous morphine patients self-administer in the 24 hours postsurgery. The primary outcome (use of intravenous morphine) will be analyzed by dose, and within each dose group by genotype of OPRM1. Secondary outcomes will include pain scores every 6 hours, satisfaction with analgesia, side effects (itching, nausea/vomiting) by dose and genotype. It is anticipated that there will be an interim data analysis at 150 evaluable subjects for assessment of the dose response to morphine in the overall population; then a final analysis at 300 subjects for the genetic effect assessment.
Background: - Previous research has shown that a person s genes can influence how they respond to alcohol. But researchers do not yet know all the genes that might be involved. Objectives: - To identify genes that are related to how non-alcoholic individuals respond to alcohol. Eligibility: - Healthy people between 21 and 30 years of age who have no history of alcohol or drug dependence. Design: * The study requires one or two 9-hour visits to the National Institutes of Health Clinical Center. * Participants must not take any medicines (except birth-control pills for women) for at least 3 days before the visit. They must not drink alcohol for at least 2 days before the visit. * Screening includes a medical history, physical exam, and a urine test for drugs of abuse. * Participants will be given alcohol over about 2.5 hours. This will have about the same effect as having three to four drinks. Frequent breathalyzer tests will check breath alcohol level during the infusion. * Before and during the infusion, participants will complete questionnaires about mood and feelings. Other tests will study thinking, balance, judgment, and risk-taking. Blood samples will be collected four times during the infusion. * Participants will have breakfast at the start of the visit (around 8:00 AM). They will have a snack before the start of the alcohol infusion (around 10:45 AM). Lunch will be served after the alcohol infusion is complete (around 2:20 PM). After the tests, those in the study will have to stay in the Clinical Center until their breath alcohol level falls below 0.02%. This can take up to 2.5 hours. A final blood sample will be drawn at that time. Participants will not be able to drive themselves home after the study visits. Also, they should not take any medicines or operate any machinery for at least 2 hours after leaving NIH.
Congenital heart disease (CHD) is the most common type of birth defect but the cause for the majority of cardiac birth defects remains unknown. Numerous epidemiologic studies have demonstrated evidence that genetic factors likely play a contributory, if not causative, role in CHD. While numerous genes have been identified by us and other investigators using traditional genetic approaches, these genes account for a minority of the non-syndromic CHDs. Therefore, we are now utilizing whole genome sequencing (WGS), with the addition of more traditional genetic techniques such as chromosomal microarray or traditional linkage analysis, to identify genetic causes of familial and isolated CHD. With WGS we are able to sequence all of the genetic material of an individual and apply different data analysis techniques based on whether we are analyzing a multiplex family or a cohort of trios (mother, father and child with CHD) with a specific isolated CHD. Therefore, WGS is a robust method for identification of novel genetic causes of CHD which will have important diagnostic and therapeutic consequences for these children.
Obesity established in adolescence strongly predicts obesity for the remainder of adult life, and the consequences are potentially devastating, characterized by a lifelong burden of co-morbid conditions and depression. This study will provide an exposure to physical activity that is designed to teach and empower sedentary college age individuals to become physically active. The investigators will evaluate whether such exposure can result in lasting changes in exercise behavior and body composition. The study will also provide a better understanding of the genetic factors that influence persistence in an exercise program and that influence whole body response to exercise training. Altering the course of obesity in adolescence has the potential to reduce the adult prevalence of obesity and consequently attenuate the public health burden of overweight and obesity in the investigators population.
The purpose of this study is to determine the genetic basis of cardiomyopathies and heart failure.
The goal of this study is to design a means of providing research families, from diverse geographical locations, the chance to receive genetic testing after having been educated by video, and meetings or telephone conversations with a genetic counselor/study professional. This is an investigational study. About 800 people will be offered genetic testing. This study is being performed only at MD Anderson.
The purpose of this study is to identify biological markers, including genes, associated with sleep disturbance and other symptoms among people with HIV.
The goal of this study is to identify the genes that contribute to susceptibility to recurrent/persistent middle ear disease. Five hundred families with at least 2 children who have undergone tympanostomy tube insertion will be enrolled. A blood sample will be obtained from the children who had tubes and any available parent (at least 1), as well as any siblings without significant histories of middle ear disease.
This study is a collaboration between the Clinical Genetics Branch of the National Cancer Institute and the International Testicular Cancer Linkage Consortium (ITCLC). The primary goal of the ITCLC is mapping and cloning susceptibility genes for familial TGCT. The objectives of the current study are to: * Identify the genes responsible for testicular germ cell tumor (TGCT) (testicular cancer) in families with an inherited tendency to develop the disease * Determine if the genes which predispose to developing testicular cancer also increase the risk of other specific types of cancer among first- and second-degree relatives of patients with TGCT * Determine if the microscopic appearance of familial testicular cancers is different from that of non-familial TGCT Patients and family members recruited by the ITCLC in the United Kingdom, the Netherlands, and Norway are eligible for this study. Individuals with the following medical criteria may participate: * Patients with testicular germ cell cancer who have at least one other blood relative with the disease * Family members of patients (first- and second-degree relatives) Participants undergo the following procedures: * Fill out questionnaires for providing information about a history of cancer in all blood relatives, including parents, siblings, children, grandparents, aunts, uncles, and cousins, and a history of undescended testes in male blood relatives. Participants may be asked permission to contact family members to request their help in the study as well. * Provide a blood sample for genetic testing related to TGCT (except in children under 16 years old). * Review of medical records and examination of tumor specimen (patients with TGCT only). * Confirmation of the diagnosis of other types of cancer in these same families (medical records, pathology repots) * Review of the testicular cancer tissue obtained at the time of surgery from members of multiple case families, and comparison of these findings with a series of TGCT which have developed in men without a family history.
This study will describe the experience of patients with visible physical abnormalities in the genetics clinic when they are involved in teaching others about their condition. Information from this study may be used to enhance educational experiences in genetics clinics. Patients 18 years of age and older with a visible physical anomaly who have been seen by a genetics professional in the past 5 years may be eligible for this study. In a tape-recorded telephone interview, patients are asked about the following: * Their experiences when visiting the genetics clinic * The circumstances under which they have been approached to participate in teaching others * Their perspective on specific teaching behaviors used in genetic consultations, and how this perspective is affected by their perception of their own visible difference * The benefits and downsides of being involved in teaching others * The circumstances under which they feel comfortable being approached by genetics providers to help teach others about their condition * The conditions or circumstances that make some individual teaching experiences better or worse than others
This study will identify specific genes that may cause a predisposition to depression in some families.
The cause of interstitial cystitis is unknown. However, it tends to run in some families suggesting that there may be a genetic susceptibility to the disease. For instance, the disease is found 17 times more commonly in first-degree relatives (parent, sibling, or child) of patients with interstitial cystitis than in the general population. Furthermore, if one twin has interstitial cystitis, the disease is much more common in identical co-twins than fraternal co-twins. This evidence suggests that, in some families, genes that make a person susceptible to interstitial cystitis are being passed from one generation to the next. The University of Maryland School of Medicine and the National Institutes of Health are performing a study to identify these genes for susceptibility for interstitial cystitis. This study is entitled the Maryland Genetics of Interstitial Cystitis (MaGIC) study. The MaGIC study will investigate several hundred families with two or more blood relatives with interstitial cystitis. The study will seek to find changes in genes that are found far more commonly in family members who have interstitial cystitis than in those who do not have the disease.Identifying these genes should lead to a better understanding of the cause of interstitial cystitis. Finding the cause is the first step to finding the cure. This is a national study which is conducted by telephone and mail, and in which you can participate entirely from your home.
The purpose of this trial is to study genetic and other risk factors that may be important in the development of Parkinson's disease.
The Lupus Genetics Studies and Lupus Family Registry \& Repository are working to find the genes that reveal the causes of systemic lupus erythematosus (SLE, or lupus). The study is enrolling families of all ethnic backgrounds from the United States, Canada, Puerto Rico, and the Virgin Islands that have one or more living members diagnosed with SLE.
The purpose of the Alzheimer's Disease Genetics Study is to identify the genes that are responsible for causing Alzheimer's Disease (AD). One of the ways in which the risk factor genes for late onset AD can be investigated is by identifying and collecting genetic material from families with multiple members diagnosed with AD or dementia.
This study is designed to determine whether sequence variation in the lipoprotein lipase (LPQ) gene affects the amount of weight loss and metabolic responses during a hypocaloric diet treatment for overweight and obese (BMI=25-35 kg/m2), older (50-65 yrs), sedentary veterans.
In this project, we hypothesize that polymorphisms of genes expressed by the airway epithelia in asthmatics following specific airway challenges predispose individuals to the development of asthma. To test this hypothesis, we identify the genes that are differentially expressed by airway epithelial cells following challenge with stimuli that induce acquired (house dust mite) or innate (LPS) immune responses, and then determine whether polymorphisms in these genes are associated with the development of asthma in a separate, well characterized, familial cohort of asthmatics. This is a powerful approach that is designed to identify novel genes that are associated with both asthma pathogenesis (differentially expressed in the exposure-response study) and asthma susceptibility (genetically associated with asthma in a linkage/association study).