View clinical trials related to Syndrome.
Filter by:Minimal change disease (MCD), focal segmental glomerulosclerosis (FSGS), and Membranous nephropathy (MN), generate an enormous individual and societal financial burden, accounting for approximately 12% of prevalent end stage renal disease (ESRD) cases (2005) at an annual cost in the US of more than $3 billion. However, the clinical classification of these diseases is widely believed to be inadequate by the scientific community. Given the poor understanding of MCD/FSGS and MN biology, it is not surprising that the available therapies are imperfect. The therapies lack a clear biological basis, and as many families have experienced, they are often not beneficial, and in fact may be significantly toxic. Given these observations, it is essential that research be conducted that address these serious obstacles to effectively caring for patients. In response to a request for applications by the National Institutes of Health, Office of Rare Diseases (NIH, ORD) for the creation of Rare Disease Clinical Research Consortia, a number of affiliated universities joined together with The NephCure Foundation the NIDDK, the ORDR, and the University of Michigan in collaboration towards the establishment of a Nephrotic Syndrome (NS) Rare Diseases Clinical Research Consortium. Through this consortium the investigators hope to understand the fundamental biology of these rare diseases and aim to bank long-term observational data and corresponding biological specimens for researchers to access and further enrich.
Chronic kidney disease (CKD) affects 10-18% of the adult population and is becoming recognized as one of the most serious disorders causing increased risk for cardiovascular disease and death. In patients with ischemic heart disease 26% have increased creatinine, which rises to 40% if patients also have diabetes mellitus. Risk increases as renal function diminishes, and just slowing the rate of decline in renal function would have a tremendous impact on health and morbidity. This association is commonly termed the Cardiorenal Syndrome, though it is caused by a much more complex interplay between major pathogenetic pathways such as glucose metabolism and diabetes, systemic and tissue inflammation, tissue metabolism, coagulation, mineral metabolism, sympathetic activation, renin-angiotensin-aldosterone system activation, endothelial dysfunction, lipid metabolism, fetal programming etc. Karolinska Institutet recently merged basic and clinical researchers in all these fields, creating a Karolinska Kardiorenal Theme Centre; ultimately aiming to explore the syndrome and provide improved care for the individual patient. The investigators road to success: - Creating a Biobank (blood, DNA, plasma) from the majority of all hosptalized patients with ACS in Stockholm county - Stockholmheartbank. - This Theme Center include all teaching hospitals associated with Karolinska Institutet; Danderyd University Hospital, Karolinska University Hospital and Södersjukhuset University Hospital. Together theses hospitals serve as emergency hospitals for 1.9 million people. The investigators are aiming at creating a biobank from all patients admitted for an acute coronary event (about 2.300/yr), which is a unique asset for molecular and genetic research as well as observational and intervention studies. - The investigators have access to the National registry with 100% coverage, that contains data on all patients admitted to Stockholms coronary care units since 1995. - To ensure translation in to clinical practice, most of the researchers are also MD:s, and several are clinically active. - The clinical network facilitates the development of novel therapies and translational research. - Steering groups for Education and a Clinical Practice implementation program.
Children with FXS are predisposed to manifesting a particular profile of intellectual strengths and weaknesses, including specific deficits in math, visual-spatial skills, executive functioning, and social skills. Until now, intensive behavioral interventions have not been targeted to syndrome-specific weaknesses. In the present study we will develop and evaluate behavioral strategies to aid skill acquisition in children with FXS.
The study tests the notion that patients suffering from certain types of congenital myasthenic syndromes are benefitted by the use of Albuterol at doses used in clinical practice.
Cardiovascular disease remains the most pressing healthcare issue for developed countries and is becoming so for developing countries. There are a number of chronic therapies available for long-term management of risk. Short term therapies for subjects with an acute event, such as an episode of acute coronary syndrome (ACS), are focused on reperfusion and removing thrombus but most subsequent events are caused by atherosclerotic plaque rupture at a different site. There are no approved therapies that can rapidly reduce the burden of unstable, inflamed plaque in the overall coronary vascular bed. HDL has multiple actions that could lead to atherosclerotic plaque stabilization, such as rapid removal of large quantities of cholesterol from the vasculature, improvement in endothelial function, protection against oxidative damage and reduction in inflammation. This study will assess the effects of CER-001, an ApoA-I-based HDL mimetic, on indices of atherosclerotic plaque progression and regression as assessed by intravascular ultrasound (IVUS) measurements in patients with (ACS).
The primary purpose of this study is to determine the effectiveness and safety of azacitidine in the treatment of Taiwanese subjects with higher-risk Myelodysplastic Syndrome (MDS).
A preliminary observational study by the investigators has shown that tadalafil, a selective phosphodiesterase-5 inhibitor (PDE-5) decreases pulmonary vascular resistance(PVR) in patients of eisenmenger syndrome (ES) resulting in increase in pulmonary blood flow (Qp), systemic oxygen saturation (SaO2), functional class and exercise capacity. The aim of this placebo controlled trial was to assess the effect of the drug on exercise capacity and functional class compared to placebo.
The purpose of this study is to compare the effects, good and/or bad, of posaconazole and micafungin in preventing fungal infections after chemotherapy for acute leukemia or myelodysplastic syndrome. When people take chemotherapy, they are more likely to get infections. Posaconazole has been approved for the prevention of fungal infections in patients who receive induction chemotherapy for acute leukemia and myelodysplastic syndrome. Posaconazole is available only as an oral suspension and has to be given with food. After chemotherapy, many patients are not able to tolerate food or oral medication because of severe mucositis. Patients unable to tolerate food and oral medications cannot take posaconazole. Micafungin is an antifungal medication that is given only intravenously. Micafungin is approved for the treatment of certain fungal infections and for preventing fungal infections in patients who receive bone marrow transplant. The investigators know that micafungin is safe. Micafungin has not been tested for the prevention of fungal infections in patients receiving chemotherapy for acute leukemia and myelodysplastic syndrome. Because micafungin is given by vein, it can be given even in patients who cannot take food or medications by mouth after chemotherapy. In this study the investigators want to compare micafungin to posaconazole when given for the prevention of fungal infections in leukemia and myelodysplastic syndrome patients.
RATIONALE: Infection prophylaxis and management may help prevent cytomegalovirus (CMV) infection caused by a stem cell transplant. PURPOSE:This clinical trial studies infection prophylaxis and management in treating cytomegalovirus infection in patients with hematologic malignancies previously treated with donor stem cell transplant.
Rett syndrome (RTT) is an X-linked severe neurodevelopmental disorder. Despite their good appetite, many females with RTT meet the criteria for moderate to severe malnutrition. The pathological mechanism is barely understood. Although feeding difficulties may play a role in this, other constitutional factors as altered metabolic processes are suspected. Preliminary research showed elevated plasma creatine concentrations and increased urinary creatine/creatinine ratios in half of the RTT girls. The aim of this study is to confirm previous findings and examine the functionality of the creatine transporter in RTT girls. The investigators assume that previous findings will be confirmed, and are due to an altered functionality of the creatine transporter.