Active clinical trials for "Syndrome"

This prospective cohort study aims to compare the proportion of cardiac or cerebrovascular events after a first stroke, a first transient ischemic attack (TIA) or recurrent TIA, between sleep-disordered breathing (SDB) and non-SDB (control) patients, one year after SDB diagnosis, performed 3 months after stroke onset. The primary outcome is a composite endpoint composed of cardiac or cerebrovascular events regrouping: death from any cardiac or cerebrovascular cause, non-fatal stroke, and non-fatal acute coronary disease. 1620 patients, in the acute phase of a first stroke, TIA or recurrent TIA will be included in the cohort. Clinical, neuroimaging, sensorimotor, cognitive and biological parameters will be collected at inclusion. Three months after stroke or TIA onset, polysomnography will be performed for SDB diagnosis. Patients will be considered as having SDB for an Apnea-Hypopnea Index (AHI) > 15 events/hour, or to the control group otherwise. The same clinical, imaging, cognitive and biological assessments than during the first visit will be performed; incident (new) cardiovascular events will be collected. Three months later, and at 1, 2, 3, 4 and 5 years after SDB diagnosis, the same clinical, cognitive, sensorimotor, and sleep-related evaluations will be performed. In addition to the aforementioned parameters, incident cardiovascular outcomes will be collected, at the same time points. The primary study outcome will be retrieved one year after stroke onset.

This research is being done because there is a need to improve cancer risk communication and decision-making among adolescents and young adults. In this study, the investigators are looking at whether using a chatbot and online portal for cancer risk information helps improve communication and decision-making. Over 70,000 adolescents and young adults (AYAs) are diagnosed with cancer in the U.S. every year and up to 10% have genetic changes (or, mutations) that put them at a higher risk of developing new cancers during their lifetimes. These genetic mutations can result in cancer risk syndromes (such as, Lynch Syndrome or Li-Fraumeni Syndrome). Identifying cancer risk syndromes can allow for screening and early diagnosis of future cancers, which could ultimately save lives and offer more care choices for patients. As a result, genetic counseling and testing for cancer risk syndromes is being recommended more for Adolescents and Young Adults with new cancer diagnoses, regardless of family history. This research study to develop an intervention called AYA-RISE that aims to assist AYAs with cancer risk communication and decision-making around their caregivers.

This is a data collection study that will examine the general diagnostic and treatment data associated with the reduced-intensity chemotherapy-based regimen paired with simple alemtuzumab dosing strata designed to prevented graft failure and to aid in immune reconstitution following hematopoietic stem cell transplantation.

Charles Bonnet Syndrome (CBS) is a condition in which people experience complex visual hallucinations, such as 'Acrobats balancing on bicycles' or 'Spiders crossing meals'. The condition usually occurs in people who have significant vision loss due to eye disease. The aim of this project is to help understand how these hallucinations come about. In the healthy visual system, the eye provides input to a large area of the brain that performs the computations required to allow us to see the world. There are specialised brain regions responsible for processing of faces, objects, motion and colour. When the eye is no longer working, these parts of the brain lose their input and this may lead to abnormal activity. Not all people with eye disease and vision loss develop CBS, so the investigators will use magnetic resonance imaging (MRI) to compare the brains of people with and without the condition. In particular the investigators are interested in measuring the levels of chemicals in the visual areas of the brain to see whether they are disrupted in CBS, leading to the hallucinations. It is possible to measure how the different areas of the visual brain are connected together and see whether this is altered in CBS, perhaps with increases in the strength of connection between specialised areas. These measures will be related to questionnaires about hallucinations and vision. This will be done by comparing low vision who experience Charles Bonnet visual hallucinations compared to low vision patients who do not have hallucinations. Assessments will take place at the Wellcome Centre for Integrative Imaging (WIN) based at the John Radcliffe Hospital. The study will provide insight into the role of the brain in generating CBS hallucinations, helping us to design a larger study and eventually to test whether there are interventions to help improve the condition.

In preterm infants with neonatal respiratory distress syndrome (NRDS), exogenous pulmonary surfactant(PS) replacement therapy is one of the most important therapeutic breakthrough to reduce neonatal mortality. Nowadays, PS is commonly used in newborn infants with respiratory distress, but the incidences of bronchopulmonary dysplasia(BPD) and/or death are inconsistent. The result indicates that not all preterm infants with respiratory distress can be beneficial from PS. In 2017, the international neonatal ARDS (NARDS) collaborative group provides the first consensus definition for NARDS. And whether or not PS being beneficial for preterm infants with NARDS remains unknown.

Marfan Syndrome (MFS) is a genetic disease affecting the eyes, skeleton, heart and arteries. Despite MFS affecting multiple organ systems, cardiovascular manifestations are the most serious and life threatening. Approximately 80% of adult MFS patients will have a dilated aortic root by age 40 years with aortic aneurysm and dissection the leading causes of morbidity and mortality. Thus, MFS patients require lifelong cardiac surveillance. Living with a diagnosis of Marfan Syndrome and aorto-vascular manifestations affects patients' mental health, well-being and quality of life in ways that are not well understood. This study will address the current knowledge gaps in this area and will provide the information needed to design interventions for MFS patients with aorto-vascular problems to help improve the patients' mental health, well-being and quality of life. The study will include adult MFS patients who have been diagnosed with aorto-vascular problems. The overall aim of the study is to explore the psychosocial and health-related quality of life (HRQoL) effects of the diagnosis for aorto-vascular manifestations of MFS in 3 large UK cardiac centres. To achieve this, the researchers will ask the potential participants, after obtaining informed consent, to complete a series of accepted/validated questionnaires to measure the study participants' health-related quality of life (SF-36 and EQ5D questionnaire) and psychosocial factors such as depression (CES-D questionnaire), fatigue (Fatigue Severity Scale), stigma (Perceived Stigma Questionnaire), self-esteem (Rosenberg Self-esteem Scale), pain and illness perception (Illness Perception Questionnaire). The researcher will also conduct a one-to-one semi-structured interview with some participants to identify factors important to patients that are not captured in the questionnaires used.

Preterm neonates usually develop respiratory distress syndrome (RDS) for which they need respiratory support, which may be invasive and non-invasive depend on the availability and individual need. Non-invasive is relatively safe but non-invasive high frequency oscillatory ventilation (nHFOV) is not appropriately evaluated in neonates as primary support. So the investigators hypothesized that nHFOV is relatively safe and effective in comparison with invasive ventilation for preterm neonates with RDS.

Alport syndrome (AS) is caused by pathogenic variants in the type IV collagen genes COL4A3, COL4A4, and COL4A5. This study aims to enroll families and patients with a history of renal hematuria in 27 hospitals and detect these three genes for AS screening. This study also aims to analysis the effect of COL4A3/COL4A4/COL4A5 genotype on the development of kidney disease.

The purpose of the Trial-Ready Cohort - Down Syndrome (TRC-DS) is to enroll 120 healthy adults with Down syndrome (DS), between the ages of 25-55, into a trial ready cohort (TRC), and up to 250 participants in total including co-enrolled in the Alzheimer Biomarkers Consortium - Down Syndrome (ABC-DS) study. Participants enrolled in the TRC-DS will undergo longitudinal cognitive and clinical assessment, genetic and biomarker testing, as well as imaging and biospecimen collection. Using these outcome measures, researchers will analyze the relationships between cognitive measures and biomarkers of Alzheimer's disease (AD) to identify endpoints for AD clinical trials in DS that best reflect disease progression. To learn more about the study and participating sites, visit our study website at: https://www.trcds.org/. TRC-DS is collaborating with the Alzheimer's Disease Biomarker Consortium-Down Syndrome (ABC-DS) to allow study participants to be concurrently enrolled in both ABC-DS and TRC-DS, referred to as "co-enrollment". ABC-DS is a longitudinal, observational research study that is overseen at University of Pittsburgh Coordinating Center. ABC-DS participants who express interest in potentially joining a clinical trial in the future and who meet TRC-DS eligibility criteria, may choose to co-enroll in TRC-DS at an ABC-DS Site. Co-enrolled participants will adhere to the ABC-DS protocol and schedule of activities, but agree to share their data with the TRC-DS team and to receive invitations for future participation in clinical trials. Fore more information on ABC-DS please visit https://www.nia.nih.gov/research/abc-ds or http://abcds.pitt.edu/.

Background: - Li-Fraumeni syndrome (LFS) is a genetic condition that increases the risk for some types of cancer. LFS may lead to cancer of the bone or connective tissue, breast, and brain. It may also increase the risk for certain types of leukemia and other cancers. The only known cause of LFS is a change (called a mutation ) in a gene known as TP53. However, not all people with LFS have a TP53 mutation. Researchers want to study other possible genetic causes of LFS, and factors that may increase or decrease cancer risk in people with the syndrome. Objectives: To learn more about the types of cancers that occur in individuals with LFS. To study the role of the TP53 gene in the development of cancer. To look for other possible genes that cause LFS To study the effect of LFS diagnosis on families. To determine if environmental factors or other genes can change a person s cancer risk associated with LFS. Eligibility: Individuals with a family or personal medical history of cancers consistent with LFS. Individuals with a family or personal medical history of cancers that does not meet the diagnosis of LFS, but the history is suggestive for LFS (meets the diagnosis for the so-called Li-Fraumeni like syndrome) Individuals with certain rare cancers Individuals with a family or personal history of a TP53 gene mutation, with or without related cancer(s). Design: Participants will fill out a medical history questionnaire and a family history questionnaire. Blood samples will be collected for DNA and for storage. Cheek cell samples may be collected if blood cannot be obtained for DNA. Participants can choose to have or not have cancer screening with blood tests, imaging studies, and other exams. Participants will complete questionnaires about their worries about cancer, stress levels, and coping strategies. Diet and physical activity questionnaires will also be given. Other psychological tests may be given as needed. Participants will be monitored for several years, with regular followup visits to the National Institutes of Health, if indicated. Any changes in health or cancer status will be recorded.