Active clinical trials for "Syndrome"

The goal of this study is to conduct a prospective, longitudinal natural history study of children and adults with Angelman Syndrome using investigator-observed and parent-reported outcome measures to obtain data that will be useful for future clinical trials.

This research study is a genomic profiling and repository study for children and young adults who have leukemia, myelodysplastic syndrome (MDS) or myeloproliferative syndrome (MPS). Genes are the part of cells that contain the instructions which tell cells how to make the right proteins to grow and work. Genes are composed of DNA letters that spell out these instructions. Genomic profiling helps investigators understand why the disease develops and the instructions that led to its development. Understanding the genetic factors of the disease can also help investigator understand why the disease of some people can respond to certain therapies differently than others. The genomic profiling will be performed using bone marrow and blood samples that either have already been obtained during a previous clinical procedure or will be obtained at the time of a scheduled clinical procedure. Studying the genetic information in the cells of these samples will provide information about the origin, progression, and treatment of leukemia and myeloproliferative syndromes and myelodysplastic syndrome. Storing the bone marrow and blood samples will allow for additional research and genomic assessments to be performed in the future.

The aim of this retrospective observational single-center cohort study is to gain a deeper understanding regarding the frequency, the clinical and electrophysiologic characteristics (e.g., the diagnostic work up), complications, treatment regimes, and their associations with specific courses of disease and outcomes in adult patients with the suspected or proven diagnosis of GBS.

Antiphospholipid syndrome (APS) is an autoimmune disorder characterized by thrombosis and pregnancy morbidity in patients with persistently positive antiphospholipid antibodies (aPLs). However, large-scale research on general population with persistent aPLs has been lacking. This project proposes to establish the first multicenter cohort of patients with persistently positive aPLs in China and conduct a comprehensive clinical phenotyping study. Based on traditional phenotypes of thrombotic and pregnancy events, the focus will be on extra-standard clinical phenotypes and prospective assessment of event risk and prognosis in aPL-positive population. A prospective analysis of extra-standard antibodies will also be conducted to recommend detection criteria for extra-standard antibody application in China and to assess their clinical significance.

Non-invasive respiratory support methods have been widely used in premature babies with respiratory distress syndrome (RDS) which has changed the basic management of premature babies in the early period. According to the 2019 European Guidelines on RDS management, early nasal CPAP is recommended as first-line therapy in infants <30 weeks of age who are at risk of RDS who do not require mechanical ventilation (MV). However, some of the premature babies have faced non-invasive ventilation failure. Remarkably, infants who experience non-invasive ventilation failure are at increased risk of death, pneumothorax, intraventricular hemorrhage, and bronchopulmonary dysplasia (BPD), among other morbidities. In non-invasive ventilation failure, although demographic factors such as small gestational age, low birth weight, and male gender play a role, it has been suggested that surfactant deficiency may also play an important role. The most frequently reported risk factor in predicting non-invasive failure in studies is the fraction of inspiring oxygen during the first hours of life. In addition, positive end-expiratory airway pressure (PEEP) required for patient stabilization was found to be a potential predictor. However, there are still limited data to predict non-invasive ventilation failure. "Which newborns are at high risk for non-invasive ventilation failure?" and "When should the surfactant be applied?". The study is a single-center, prospective study to evaluate prognostic factors, and most importantly to define the FiO2 threshold, which is an indicator of possible non-invasive ventilation failure in infants supported with nasal intermittent positive pressure ventilation.

The study aims to compare the endothelial cell count in patients with pseudoexfoliation syndrome to the the endothelial cell count in normal patients above the age of 50.

The Single Large-Scale mtDNA Deletion Sydrome: Natural History Study (PS-NHS) aims to collect data on standardized clinical outcomes, store data on the Champ Foundation Registry (CFR) and make this data available to researchers, clinicians, and industry partners who are studying SLSMDS to answer questions regarding the disease, including its causes, potential treatments, and other topics. A secondary aim is to analyze the data to understand research questions relating to the natural history of SLSMDS.

Multisystem inflammatory syndrome in children (MIS-C) is a rare severe complication to SARS-CoV-2 infection in children. It has been reported to occur in approximately one of 3,000 to 4,000 unvaccinated children during the COVID-19 waves dominated by variant Alpha of SARS-CoV-2. However, the incidences following SARS-CoV-2 infection with variant delta and omicron, as well as among vaccinated children and adolescents with SARS-CoV-2 is yet unexplored. The investigators aim to estimate the incidence of MIS-C and in vaccinated and unvaccinated children and adolescents following variants delta and omicron, and other complications of SARS-CoV-2 including complication due to SARS-CoV-2 lock-down, based on a nationwide prospective population-based cohort study.

Current methods for assessing circadian timing require sampling over hours (or even up to a day) while the patient is in controlled conditions. The investigators aim to develop a method that can estimate individual circadian time with a single blood sample taken at any time of the day or night. To do this, the investigators will use two state of the art methods, a plasma proteomics-based method to identify a panel of rhythmic proteins (extending our preliminary data) and a whole blood-derived monocyte-based method using a panel of 15 transcripts (to validate and extend a recent study). We will test both methods in a series of patients with circadian rhythm sleep disorders. We will validate separately the proteomics-based biomarker and the monocyte-based transcript biomarker, and also explore whether combining them can improve the accuracy of our timing estimates. In all cases, circadian phase estimates from the biomarker panels will be compared with those derived from plasma or saliva melatonin (the current "gold-standard" circadian phase marker).

For the last years, studies have described the " Post-intensive care Syndrome " (PICS), which consists in alteration of quality of life, cognition, autonomy and psychological disorders within the months after intensive-care. Patients with COVID-19 in intensive care units are at high risks to develop PICS. The primary objective is to analyse the incidence of the post-traumatic stress disorder at 12 months after intensive-care for a COVID-19 Acute Respiratory Distress Syndrome (ARDS).