26 Clinical Trials for Various Conditions
Parkinson's disease (PD) occurrence is higher in rural than in urban populations of industrialized countries. Epidemiologic and human tissue studies suggest that pesticides may be responsible for causing dopaminergic cell death at increased rates. While many pathophysiologic pathways may be involved in the neurodegeneration responsible for PD, genetic factors are likely to determine a general susceptibility to neurodegeneration.
The purpose of this study is to examine whether the use of genetic test information and/or health coaching in patient risk counseling for heart disease and diabetes affect health behaviors and health outcomes in active-duty Air Force (ADAF), beneficiaries or dependents and Air Force retiree patients. Total of 400 subjects will be enrolled. They will be randomly(like flipping a coin)assigned to 4 groups: 1)Standard risk assessment (SRA)only; 2)SRA plus genetic risk information (SRA+G); 3)SRA plus health coaching (SRA+HC); or 4)SRA, genetic risk information, and health coaching (SRA+G+HC). Subjects randomized to the two genetic arms will have blood collected for testing of investigational coronary heart disease (CHD) and type 2 diabetes (T2D) risk markers. Participants in the two groups that include health coaching will be assigned to a trained certified health coach for a period of 6 months. The duration of the study is 12 months with 3 in person visits (baseline, 6 months and 12 months) and completion of surveys at 6 weeks and 3 month time points.
Loss-of-function mutation of the gene encoding the CYP450 2C19 enzyme has emerged as a likely determinant of resistance to clopidogrel therapy. The primary hypothesis of the proposed research is that among patients with confirmed loss-of-function alleles of the CYP2C19 gene, increasing the maintenance clopidogrel dose from 75 to 150 mg will result in significant reduction in the rate of measured clopidogrel resistance defined by multiple measures of platelet function
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.
This study will identify which regions on the genes, and genes themselves, may account for an increased risk of end stage renal disease (ESRD), that is, near-total loss of kidney function, for people of African American descent. Researchers will use a technique called admixture linkage disequilibrium (MALD) to study genomes, genetic material, in about 2,500 participants from two existing studies and participants who will serve as controls. ESRD disproportionately affects African Americans, who constitute 29% of all ESRD patients in the Medicare ESRD program. The disease can result from a variety of diseases, with diabetes as the leading underlying cause (44% of cases) and hypertension as the second leading cause (26%). The proportion of ESRD cases caused by diabetes has increased dramatically. Patients age 18 and older who are African American, who have ESRD, and who are participants of the FIND and CHOICE studies may be eligible for this study. FIND, or Family Investigation of Diabetes and Nephropathy, involves a multicenter study to identify susceptibility genes, that is, those with a risk, for diabetic and other forms of kidney disease. CHOICE, or Choices for Healthy Outcomes in Caring for ESRD patients is an ongoing study that identifies risk factors for cardiovascular outcomes in ESRD patients. The principle of mapping by MALD involves genetic variations that exist across populations. When mixing occurs between populations having different (heterogeneous) genes, the admixed offspring inherits chromosomes of distinct ancestry. However, over generations of mating, and recombination over several generations, originally large blocks of DNA from African ancestry have become part of smaller segments throughout the chromosome. The study will focus on risk alleles, that is, alternative forms of genes that carry a disease risk. Risk alleles are closely related to nearby ancestral gene markers found in a person. Patients will undergo a collection of blood and urine for genetic testing. Researchers are conducting separate analyses in this study. Case-control analysis of ESRD will consist of 1,150 participants from FIND and 250 from CHOICE. There will also be 750 control participants from FIND. For the case-control analysis of diabetic ESRD, there will be about 750 participants from FIND, 125 from CHOICE, and 750 controls from FIND. Finally, there is the quantitative trait analysis, which looks at the phenotype-meaning visible characteristics produced by the interaction of a person's genetic makeup with the environment. That analysis will involve 350 patients with diabetic nephropathy but not ESRD and 750 controls from FIND.
Background: - Researchers are interested in studying disorders that make individuals more susceptible to fungal infections, specifically infections with the Candida yeast. These disorders are often related to problems with the immune system and may have genetic factors, which suggests that researchers should study not only the individual with the disorder, but also his or her first- and second-degree relatives (such as parents, siblings, children, and first cousins). To provide material for future research, individuals with immune disorders and their first- and second-degree relatives will be asked to provide blood and other samples for testing and comparison with samples taken from healthy volunteers with no history of immune disorders. Objectives: - To collect blood and other biological samples to study immune disorders that make individuals more susceptible to fungal infections. Eligibility: * Individuals of any age who have abnormal immune function characterized by recurrent or unusual fungal infections, recurrent or chronic inflammation, or other types of immune dysfunction. * First- or second-degree genetically related family members (limited to mother, father, siblings, grandparents, children, aunts, uncles, and first cousins). * Healthy volunteers at least 18 years of age (for comparison purposes). Design: * Participants will provide blood samples and buccal (cells from the inside of the mouth near the cheek) samples. * Participants with immune disorders will also be asked to provide urine samples, saliva or mucosal samples, or skin tissue biopsies, and may also have imaging studies (such as x-rays) to collect information for research. * Samples may be collected at the National Institutes of Health or at other clinical locations for the samples to the sent to the National Institutes of Health. * No treatment will be provided as part of this protocol.
The purpose of this study is to determine if sequence variations in genes involved in the development and function of vulnerable organs increases susceptibility to chronic lung disease (CLD) and other diseases affecting premature infants, such as necrotizing enterocolitis (NEC), sepsis, patent ductus arteriosus (PDA) and intraventricular hemorrhage (IVH). The study will also determine whether measurement of certain biomarkers in serum will identify infants who will develop these complications of prematurity. Previous studies from this institution and others have identified genetic variants in some genes, such as toll like receptor genes are associated with higher risk of CLD or NEC. The interaction of these variants with other gene variants that can influence the risk of these diseases remains unclear.
This study, done in collaboration with Johns Hopkins University School of Public Health in Baltimore, Maryland, will examine the role of genes in the development of atherosclerotic cardiovascular disease (CVD) in patients undergoing kidney dialysis. The rate of illness and death from CVD among patients on dialysis is extraordinarily high, accounting for about 50 percent of deaths. Blood levels of inflammatory markers are elevated in these patients, strongly predicting illness and death from CVD. The discovery of gene variants related to the inflammatory process in atherosclerotic CVD may lead to better medical treatments and improved survival in patients with end-stage kidney disease. Participants of John's Hopkins University's CHOICE (Choices for Healthy Outcomes in Caring for End-Stage Renal Disease) program are included in this study. Blood samples previously collected from these patients will be analyzed in the laboratory for genes that might be associated with the inflammatory process and atherogenesis.
The purpose of this study is to determine whether bilateral orthotopic lung transplantation (BOLT) followed by cadaveric partially-matched hematopoietic stem cell transplantation (HSCT) is safe and effective for patients aged 5-45 years with primary immunodeficiency (PID) and end-stage lung disease.
Granulomatous lung diseases are diseases in which inflamed clusters of white cells, known as granulomas, form in lung tissue. Chronic beryllium disease (CBD) and sarcoidosis are two granulomatous diseases that share similar clinical symptoms, physiological changes in the lungs, and immune responses to the disease. Genetic variations may make some people more susceptible to developing CBD or sarcoidosis. This study will identify common genetic regions associated with increased risk of developing the granulomatous diseases CBD and sarcoidosis.
This study will assess the efficacy and safety of Niraparib in participants with either tumor mutation in the BRCA gene (tBRCAmut) HER2- breast cancer (Independent of hormone receptor \[HR\] status, including HR positive \[+\] and TNBC) or tumor BRCA wild type (tBRCAwt) TNBC with molecular disease based on the presence of circulating tumor Deoxyribonucleic acid (ctDNA) following surgery or completion of adjuvant therapy.
The purpose of the study is to explores various psycho-social, physiological, cognitive, behavioral, and environmental factors that may affect the association between pulmonary status and Susceptibility to Electronic Cigarette Use
Pheochromocytomas and paragangliomas are neural crest-derived tumors of the nervous system that are often inherited and genetically heterogeneous. Genetic screening is recommended for patients and their relatives, and can guide clinical decisions. However, a mutation is not found in all cases. The aims of this proposal are to: 1) to map gene(s) involved in pheochromocytoma, and 2) identify genotype-phenotype correlations in patients with pheochromocytoma/paraganglioma of various genetic origins.
Background: -Tuberculosis (TB) is an infection of the lungs caused by bacteria. In Mali, TB is diagnosed with a test that is fast and inexpensive but not always accurate. The purpose of this study is to test a new method for diagnosing TB, called the microscopic-observation drug-susceptibility (MODS) test. The MODS test takes 7 days to show results. The test also gives information on which drugs will work best in each case. Objective: -To test a new method for diagnosing tuberculosis called the microscopic observation drug susceptibility test. Eligibility: * Participants must be 12 years of age or older. * They must have a diagnosis of TB from a sputum smear, or have symptoms of TB and an x-ray indicating that TB is present. Design: * Participants will take part in the study from 6 months to 21 months and be assigned to one of three groups, depending on what type of TB they have. * At the first visit, researchers ask questions about general health and symptoms of TB. They check vital signs, draw blood, and ask for a sputum sample. The blood is used to check for HIV infection and for the number of CD4 cells, which measures the severity of the HIV infection. * The 2-, 5-, and 6-month visits are similar to the first. Those who do not have multidrug-resistant (MDR) TB will end their participation after the 6-month visit. MDR TB is tuberculosis that has not responded to isoniazid and rifampicin. Participants with MDR TB will remain in the study for 21 months. * No treatment is provided as part of this study.
Background: * National Institutes of Health (NIH) researchers have been studying immune cells (white blood cells) to better understand how the human body s defense system works and adjusts or regulates itself, and how changes in this system can make a person sick. * To study the cells of patients who have problems with their immune systems, researchers would like to collect samples of skin cells from patients with immune system disorders and compare them with skin cells taken from healthy volunteers. By studying these cells, researchers hope to determine whether these cells can be modified to create a new kind of personalized gene therapy that would attempt to cure immune diseases in the future. Objectives: * To obtain skin cells from patients with immune system disorders and from healthy volunteers for research and comparison purposes. Eligibility: * Patients between the ages of 2 and 85 who have immune system disorders. * Healthy volunteers between the ages of 18 and 85. * Both groups will be selected from the eligible participants of existing NIH studies into immune system disorders. Design: * Researchers may take up to two biopsies from participants arms, legs, abdomen, or back. * The biopsy site will be numbed with local anesthetic and cleaned before the sample is taken. * The punch skin biopsy needle will be inserted into the skin and rotated to remove a small circle of skin (approximately 1/4 to 3/8 of an inch across). The area will be closed with bandages or stitches, and then covered with a dressing. Any stitches will be removed in 7 to 10 days. * Tissue samples collected in the study will be stored for future research.
To perform a laboratory sensitivity testing survey of antibiotic agents against Neisseria gonorrhea isolates from men with symptomatic urethritis seen at an STD clinic.
The purpose of this study is to determine the characteristics of those who obtain genetic susceptibility testing for Alzheimer's disease with APOE disclosure and to study the psychological and behavioral consequences of providing this information.
The purpose of this study is to provide healthy adults with genetic testing and information about their chances of developing Alzheimer's disease.
This screening study will examine the causes of immune disorders affecting white blood cells, which defend against infections and will try to develop better means of diagnosis and treatment of these immune disorders. This is a 2 visit screening study and patients determined to be of interest for additional study or treatment will be asked to provide consent for enrollment into an appropriate NIH follow up study. This study does not cover the cost of the first visit to NIH for travel or lodgings but does cover the subsequent visit if there is one. A financial assessment may determine if the patient is eligible for financial assistance. This study does not enroll children under the age of 2. Patients known to have or suspected of having increased susceptibility to infections and their blood relatives may be eligible for this study, at the discretion of the principal investigator. Patients and family members may undergo the following procedures: * Personal and family medical history. * Physical examination and blood and urine tests. * Studies of breathing function (pulmonary function testing) * Dental examination. * Eye examination. * Genetic Testing * Stored specimens for future analysis * Microscopic examination of saliva, wound drainage or tissues removed for medical reasons for cell, hormone or DNA studies. In addition, patients will be asked to obtain permission for investigators to obtain their medical records, previous test results, or radiographic studies prior to the first visit. Patients will be asked to undergo imaging studies, such as a chest X-ray, CT scan or MRI scan.
The REVEAL II study provides healthy adult children and siblings of Alzheimer's disease patients with genetic testing and information about their own chances of developing the disease. The study will compare a condensed education and counseling program to the current more extensive program.
This study will examine whether the tendency to have thrombosis, or the formation of blood clots inside blood vessels, has a role in the development of pseudotumor cerebri (PTC). PTC causes symptoms and signs of isolated elevated blood pressure in the cranium, or covering of the brain. The disorder can lead to significant, negative effects on the visual system. Increased pressure of the cerebrospinal fluid, that is, fluid around the brain, is a factor, but the cause of the disorder is not clear. There has been documentation of clustering of PTC within families. It suggests that potential genetic polymorphisms-abilities to take on different forms-may become evident after exposure to conditions known to trigger PTC. Thrombosis comes about by interactions between genetic and environmental or acquired factors, or both, resulting in a blood clot at a specific time and location. Because the disease occurs in episodes, the interaction of the genetic and nongenetic risk factors is important. Cystinosis is a recessive disorder caused by deposits of cystine within the lysosomes of cells-that is, sac-like cell parts that contain various enzymes. Involvement of the kidneys remains the primary characteristic, eventually leading to renal failure. Of all of the risk factors that make it easier for blood clotting, a high level of a substance called homocysteine is of particular interest. Too much homocysteine in blood plasma is a common finding in patients with kidney failure, and it has been recently identified as an independent risk factor for diseases of the blood vessels. Participants of all ages who meet the Dandy criteria for PTC may be eligible for this study. Pregnant women will be excluded. There will also be a control group of nephropathic cystinosis patients who do not have PTC. Participants will be asked to undergo the following tests and procedures: * Medical history. * Physical examination, to evaluate the eye and nervous systems. * Collection of blood for DNA and other tests. * Collection of cerebrospinal fluid, through a procedure called lumbar puncture or spinal tap. The evaluation of patients will generally last 3 to 4 days. For the collection of cerebrospinal fluid, the patient's skin on the back will be numbed with a local anesthetic. A special needle will be inserted into the back, and a small amount of the fluid will be drawn through the needle. There will be pain for a minute, although there can be a headache lasting 24 hours. Also, there may be bruising, local pain, bleeding, or infection where the needle enters. Patients may also have a magnetic resonance imaging scan of their head. During the MRI scan, patients will lie still on a table that slides in and out of a metal cylinder surrounded by a strong magnetic field. Patients will be able to communicate with the MRI staff at all times and may ask to be moved out of the machine at any time.
This study will collect fluid and tissue specimens from the lungs and nose of healthy people and people with a history of lung infections. The specimens will be examined for differences between the two groups that may be associated with susceptibility to certain infections. Healthy normal volunteers and people with a history of lung infections between 18 and 75 years of age who are followed at NIH may be eligible for this study. Participants undergo the following procedures: Medical history and physical examination. Blood and urine tests. Electrocardiogram (ECG) and chest x-ray. Treadmill exercise stress test (for people over 45 years old with a history of chest pain or ECG abnormalities). Bronchoscopy: The subject s nose and throat are numbed with lidocaine and a sedative is given for comfort. A thin flexible tube called a bronchoscope is advanced through the nose or mouth into the lung airways to examine the airways carefully. Fluid collection during the bronchoscopy using one of the following methods: * Bronchoalveolar lavage: Salt water is injected through the bronchoscope into the lung and immediately suctioned out, washing off cells lining the airways. * Bronchial brushings: A brush-tipped wire enclosed in a sheath is passed through the bronchoscope and a small area of the airway tissue is gently brushed. The brush is withdrawn with some tissue adhering to it. * Endobronchial biopsies: Small pinchers on a wire are passed through the bronchoscope and about 1 to 2 millimeters of tissue is removed. * Nasal scrape: A small device is used to scrape along the inside of the nose to collect some cells. * Sputum induction * Exhaled breath condensate to obtain specimens for in vitro investigations and comparisons of both the cellular and acellular components. * Nasal nitric oxide production * Nasal potential difference * Exhaled aerosol mask sample collection * Cough aerosol collection * Exhaled particle collection * Lung Clearance Index (LCI)
This study seeks to correlate microbiome sequencing data with information provided by patients and their medical records regarding autism.
The proposed research project will continue the application and development of a new method (biomagnetic susceptometry) that measures magnetic fields to determine how much iron is in the liver. The amount of iron in the liver is the best indicator of the amount of iron in the whole body. Measuring the amount of iron in the body is important because either too much (iron overload) or too little iron (iron deficiency) can be harmful. At present, the most reliable way to measure the amount of iron in the liver is to remove a sample of the liver by biopsy, either by surgery or by using a needle which pierces the skin and liver. Iron stored in the liver can be magnetized to a small degree when placed in a magnetic field. In patients with iron overload, the investigators previous studies have shown that magnetic measurements of liver iron in patients with iron overload are quantitatively equivalent to biochemical determinations on tissue obtained by biopsy. In the past the investigators have developed a device to measure the amount of magnetization, which was called a SQUID (Superconducting QUantum Interference Device) susceptometer. This device was validated and in use for over 20 years. The safety, ease, rapidity and comfort of magnetic measurements make frequent, serial studies technically feasible and practically acceptable to patients. The investigators have now developed a new susceptometer, which uses very similar technology to the SQUID, but the investigators believe is more accurate and precise. This study aims to validate this new instrument. The investigators will do prospective, serial studies of the diagnosis and management of patients with iron overload, including thalassemia major (Cooley's anemia), sickle cell disease, aplastic anemia, myelodysplasia, hereditary hemochromatosis, and other disorders. Funding Source - FDA OOPD.
Background: * Bronchiectasis is a disease characterized by airways that are inflamed, abnormally dilated, and chronically infected. Individuals with bronchiectasis have a history of chronic and recurring respiratory infections. Depending on the underlying cause, these infections may involve the entire respiratory tract, resulting in sinus, ear, and lung disease. * Bronchiectasis continues to be a significant problem in developing countries and in specific groups of individuals, particularly in people who have cystic fibrosis. Although treatments are available or under development for bronchiectasis related to cystic fibrosis, many of the disease-specific treatments may not be effective for bronchiectasis not related to cystic fibrosis. Objectives: - To study the natural history of bronchiectasis to identify inherited and immune factors that may explain why certain individuals have chronic recurring infections. Eligibility: * Individuals 5 years of age and older who have an established diagnosis of bronchiectasis or a history of chronic/recurring respiratory infections. * Direct family members (e.g., parents, siblings, children) of patients in the study may also be asked to participate. Design: * Potential participants will be screened with an initial clinic evaluation and full medical history, as well as a general quality of life and respiratory symptom questionnaire. * The following standard procedures may be done as part of the study: air sampling from the nose; imaging studies, which may include an x-ray or computed tomography (CT), lung function tests; and collection of samples of blood, urine, and sputum (phlegm or mucus). Other tests may be performed as required by the researchers, and will be explained to patients as needed. * Both patients and relatives (if asked to participate) will provide the following samples: blood or buccal (cheek swab) cells for genetic testing, sputum, and urine. * To prevent infections and potential disease progression, patients may receive standard medical care and treatment for bronchiectasis and related infections during this protocol.
Systemic lupus erythematosus (SLE) is severe, chronic, disabling autoimmune disease that significantly affects health status and quality of life. Since the disease occurs most often in young to middle-aged adults, SLE can also affect work and disability. However, there is currently little information on work-related disability from longitudinal, population-based studies of SLE. Participants were enrolled into the Carolina Lupus Study between February, 1997 and July 1999. We plan to conduct two telephone contacts with patients and one telephone contact with controls in a follow-up study to be conducted in 2001. The first patient contact will follow an introductory letter that describes the follow-up study. This letter provides participants the opportunity (via a toll-free phone number) to decline further contact about this study. The first patient contact will be a short (5 minute) interview in which we determine their current source of lupus-related medical care, timing of next expected visit, and update contact information. The second contact will involve a 60-minute telephone interview covering medical care utilization, current health status (including a patient-administered measure of lupus activity), work and disability issues, psychosocial attributes (e.g. helplessness, social support, daily stressors including race-related issues), and changes in exposures since the initial interview. We will attempt to schedule the patients' interviews within 3 months before or after the patient sees his or her own physician for SLE-related evaluation or treatment. A short (15 minutes or less) telephone interview will be conducted with controls focusing on current health, work status, and daily stresso. Ddisease damage will be assessed using the System Lupus international Collaborating Clinics (SLICC)/American College of Rheumatology (ACR) Damage Index, a standardized and validated instrument that is completed by the patient's physician. We will seek death certificates for patients and controls who have died in order to obtain cause of death information. Next-of-kin information from death certificates will not be used. This study will allow up to determine the feasibility of obtaining reliable data on disease damage from more than 50 physicians involved in the treatment of patients in the Carolina Lupus Study. This developmental work is a necessary foundation for any additional follow-up studies of the Carolina Lupus Study cohort. We will also be able to examine associations with disability in patients and in controls and to examine the contribution of various factors to the increased disease severity experience by African-American SLE patients.