View clinical trials related to Syndrome.
Filter by:This study plans to learn more about how to measure the way the the body's energy system works in boys with Klinefelter syndrome, including the heart, lungs, muscles, and liver. This is important to know so that investigators understand how hormones and an extra X chromosome relate to diseases such as diabetes, extra weight gain, heart disease and liver diseases.
The purpose of this study is to compare the efficacy of electrical pudendal nerve stimulation (EPNS) and Tolterodine Tartrate in patients with urgency-frequency syndrome.
Before switching to the post-marketing study: To evaluate the efficacy and safety of KRN23 after its 144-week once every 4 weeks (Q4W) repeated SC administration to Japanese and Korean patients with TIO or ENS by a multicenter, open-label, intraindividual dose adjustment study. After switching to the post-marketing study: To evaluate the safety and efficacy of KRN23, which is switched from the investigational product to the post-marketing investigational product, at the approved dose and dosing regimen in subjects who continue treatment after the marketing approval of KRN23 in Japan.
This is a phase II trial using a non-myeloablative cyclophosphamide/ fludarabine/total body irradiation (TBI) preparative regimen with modifications based on factors including diagnosis, disease status, and prior treatment. Single or double unit selected according to current University of Minnesota umbilical cord blood graft selection algorithm.
The objectives of this trial are to evaluate the safety, tolerability, maximum tolerated dose (MTD), pharmacokinetics and preliminary efficacy of volasertib in two dosing schedules of intravenous volasertib as monotherapy or in combination with azacitidine in patients with myelodysplastic syndrome (MDS) after hypomethylating agents (HMA) treatment failure.
The proposed study aims to investigate the feasibility, effectiveness, and perceived benefit of a hatha yoga intervention for patients with irritable bowel syndrome (IBS) compared to nutrition counselling. Further, the potential of both interventions to influence the gut microbiome will be inquired.
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.
Background: Down syndrome (DS) has unique physical, motor and cognitive characteristics. Despite cognitive and motor difficulties, there is a possibility of intervention based on the knowledge of motor learning. However, it is important to study the motor learning process in individuals with DS during a virtual reality task to justify the use of virtual reality to organize intervention programs. The aim of this study was to analyze the motor learning process in individuals with DS during a virtual reality task. Methods: A total of 40 individuals participated in this study, 20 of which were with DS (24 males and 8 females, ranging between 11-28 yrs.) and 20 typically developing individuals matched by age and gender to the individuals with DS. To examine this issue, we used software that uses 3D images and reproduced a coincidence timing task.
International, multicenter, observational, longitudinal monitoring study to identify biomarker/s for Alport syndrome and to explore the clinical robustness, specificity, and long-term variability of these biomarker/s
The investigators aim to assess the respiratory effect of short half-life agents in balanced anesthesia on patients suffering from non-treated or suspected obstructive sleep apnea syndrome (OSA) We will study the impact on OSA of a regimen of remifentanil-desflurane versus a regimen of fentanyl-sevoflurane. Each patient will undergo three respiratory portable polygraphies: the night before the surgery ; the first night following the surgery ; the third night following the surgery.