The purpose of this research study is to develop a better understanding of the cause and natural history of vascular anomalies and related syndromes. This study is being done in order to develop a better understanding of the cause of vascular anomalies in order to to improve care for people who are affected by these anomalies and related syndromes.
This study is being done at the University of Wisconsin-Madison (UW-Madison) and other sites in North America and Europe. A total of about 1000 people will participate in this study. About 20 – 30 people will take part in the study here at the Medical University of South Carolina.
In current practice, options for venous and lymphatic malformations remain limited. Recently an oral medication, sirolimus, has been found to benefit patients when taken once or twice a day for several months. Unfortunately there are many side effects associated with this medication, some of which can be severe including, neutropenia, oral ulcerations, and lab abnormalities. The purpose of this study is to determine if once weekly dosed sirolimus will be effective for the treatment of venous and lymphatic malformations. Additionally, the study will evaluate patient satisfaction and identify adverse effects. Participants will be on the medication for 6 months with an option to continue after this time period.
This is a prospective cohort study of subjects with portal hypertension to examine whether increased sphingosine 1 phosphate : ceramide ratio and circulating bile acids are associated with HPS in patients with advanced liver disease. The study will consist of 400 individuals who are evaluated for liver transplantation at the Field Centers. This population has advanced liver disease and will represent the population with cirrhosis at the Centers. As is considered standard of clinical care for these patients and required for liver transplant evaluation, patients will undergo phlebotomy, interviews, pulmonary function testing, echocardiography, and arterial blood gas sampling at their initial evaluation. During the clinical phlebotomy, additional samples will be drawn for research purposes. If any of these procedures does not occur during the clinical visit, it may be conducted for research purposes. Six minute walk testing, frailty scales, SF36, and optional actigraphy, all of which are research-only assessments, will be performed at baseline. Subjects will then be followed via phone for the duration of the study period.
Alzheimer's disease and Epilepsy may affect over 80% of individuals that have Down syndrome by the age of 60. Biomarkers found in the blood can enhance our understanding of the earliest changes linked to disease and may enhance clinical detection and healthy aging for individuals with Down syndrome.
The purpose of this study is to discover early neurobiological processes underlying the transition from healthy aging to disease. Our research team has developed technology that allows detection of small changes in the brain that get transferred to the blood.
We are recruiting individuals that either have or do not have Down syndrome for this biomarker study. Participants should be between the ages of 6 months and 85 years old and may include mothers and siblings of a child with Down syndrome. Infants and children will require consent form a parental or legal guardian.
Each participant will provide a blood sample for research purposes. We will also gather some basic health information about senses, habits, exercise level and smoking/vaping exposures.
The purpose of the study is to generate a bio bank of specimens for research. We will tissue that would otherwise be discarded from clinical or surgical procedure and information from medical records. We will also collect discarded blood, urines and sputum. Collecting samples will help to better understanding the mechanisms of cardiovascular diseases, identify biomarkers for early diagnosis and to predict safety and efficacy of new therapies.
The study will compare two durations of treatment with Octreotide in patients with confirmed esophageal variceal hemorrhage who have undergone successful endoscopy and possible endoscopic therapy for control of bleeding. All procedures including the treatment are the standard of care. Octreotide infusion and endoscopic therapy for esophageal variceal bleeding are not investigational.