View clinical trials related to Syndrome.
Filter by:The primary objective of this study is to assess the presence of amyloid in non-demented/functionally stable adults with DS as a function of age, dividing the sample into amyloid-positive and amyloid-negative groups. We will also obtain baseline cognitive measures across a range of areas that are often affected by AD.
This trial will assess the safety, efficacy and tolerability of ACZ885 in patients aged 4 years and younger with cryopyrin associated periodic syndromes (CAPS)
Wolfram syndrome, also referred to as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and deafness) is a genetic syndrome characterized by beta-cell dysfunction and apoptosis leading to diabetes, neurodegeneration and psychiatric illness. Accumulating evidence indicates that beta-cell failure and neuronal cell dysfunction in Wolfram's syndrome results from a high level of ER stress in affected cells. The current treatment of Wolfram syndrome is insulin, which fails to prevent the progression of beta-cell failure. Several studies showed that GLP-1 analogs are very effective in protecting beta-cells from ER stress. Herein, the investigators suggest studying the impact of GLP-1 analogs in the treatment of patients with Wolfram syndrome. The investigators will Study the effects of GLP-1 analog (Exanatide) on beta-cell function and glycemic control of patients with Wolfram syndrome. Evaluation of beta cell function will be done by performing meal test and IVGTT test before starting GLP-1 therapy, and after 3 month of treatment.
This is an interventional, multicenter, open label, phase II study designed to evaluate the safety and efficacy of Clofarabine in combination with low dose Cytarabine in untreated patients with poor risk of Myelodisplastic Syndromes.
During the past two decades, there current concept has evolved significantly that ventilator-induced lung injury (VILI) may not only impose a direct mechanical stress and subsequent injury to the lungs, but may also induce local as well as systemic inflammation responses, generally referred as biotrauma.1 Patients with ARDS often die of severe systemic inflammatory response syndrome (SIRS) and multiorgan dysfunction2 rather than refractory hypoxemia. Ranieri et al found that patients with less severe ARDS, i.e., a lung injury score of 2.5 or less, receiving ventilation with lung protective strategy involving low tidal volume (7.5 mL/kg PBW) and high PEEP could attenuate the pulmonary and systemic cytokine response compared with conventional ventilation with high tidal volume.3 Stuber et al found an increase in pro-inflammatory cytokines in the lung and plasma of patients with ARDS within 1 hour after switching the patients from a protective to non-protective ventilator strategy.4 The receptor for advanced glycation end-products (RAGE) was recently identified as a marker of injury to the alveolar type I epithelial cells5. Clinical studies showed that the plasma level of RAGE was associated with severity of lung injury and clinical outcome, and low tidal volume strategy ventilation accelerated the decline in plasma RAGE levels. These results suggest plasma RAGE level might be a reliable biomarker of alveolar epithelial injury in acute lung injury and may associated with ventilator induced lung injury6. Although, current approach to mechanical ventilation of a patient with ARDS emphasizes the use of lower tidal volumes with lower plateau pressures to avoid causing lung overdistension and ventilator associated lung injury (VILI)7; however, in the real world, some studies showed that strictly reduction of tidal volume to 6ml/kg PBW was modest in modern time, and was noticed only in patients with greater lung injury scores8. The benefit of VT strictly reduction to 6ml/kgPBW and its effect on VILI in patients with less severe ARDS whose Pplat are already below 30 cmH2O are controversy9. One of the possible solutions is to look at the biomarkers of injury to alveolar epithelial cells. Of these potentially promising markers, the receptor for advanced glycation end-product (RAGE) is of great interest. We hypothesize that a strategy with strict low tidal volume in less severe ARDS and ALI patients with good compliance may be beneficial to this patient population. Therefore, we wish to propose a prospective single-center study to investigate the effect of mechanical ventilation strategy on the plasma level of RAGE in patients with less severe ARDS and acute lung injury.
Fragile X syndrome (FXS) is the most common inherited form of developmental disability. FXS is inherited from the carrier parent, most often the mothers. FXS is associated with severe interfering behavioral symptoms which include anxiety related symptoms, attention deficit hyperactivity, and aggressive behaviors. Approximately 25-33% of individuals with FXS also meet criteria for autistic disorder. The hypothesis of this study is that treatment with acamprosate will reduce inattention/hyperactivity, language impairment, irritability, social deficits, and cognitive delay in youth with FXS. The purpose of this study is to investigate the effectiveness and tolerability of acamprosate in youth with Fragile X Syndrome and to assess the potential psychophysiological differences between FXS and autism spectrum disorders.
Background: Several studies have suggested that clozapine has the greatest propensity of all available atypical antipsychotics to induce weight gain and metabolic dysregulation. So it is necessary to conduct some interventions to prevent or treat metabolic dysregulation induced by clozapine. Metformin has been reported to achieve weight loss in several groups of patients characterized by insulin resistance. Several studies evaluated the effects of metformin on antipsychotics-induced weight gain and study period lasted from 8 to 16 weeks. Long-term metformin use had more robust effect on metabolic dysregulation and body weight in non-psychiatric field. Goals: The study goals are two-fold. The first goal is to estimate the prevalence of metabolic dysregulation among clozapine-treated schizophrenic patients in Taiwan. The second goal is to assess the reversal effect of metformin on metabolic disturbance among clozapine-treated schizophrenic patients in a 24-week double-blind, placebo-control trial. The investigators will use metformin 1500 mg/d or placebo in the second phase trial. Methods: This study will be divided into two phases. The first phase is to estimate the prevalence of metabolic disturbances among clozapine-treated patients. The second will be a randomized, double-blind, and placebo-controlled study of adjunctive metformin for non-DM clozapine-treated patients. The clozapine dosage was maintained unchanged during the study period. The eligible patients will be randomly assigned to either metformin or identical placebo pills. Metformin will be titrated to 1500 mg/day in 4 weeks. Patients' blood pressure (BP), waist circumference, body weight, fasting plasma glucose (FPG), triglyceride (TG), high-density lipoprotein cholesterol (HDL), insulin, and leptin will be measured at 2, 4, 8, 16, and 24 weeks after the start of metformin. In a 3-year period, the investigators estimate to recruit 150 clozapine-treated patients in the first phase and 75 fulfill the second phase criteria. The investigators estimate 60 patients complete the second phase intervention (staying in second phase at least 4 weeks). From this study, the investigators would like to know the prevalence of metabolic dysregulation among clozapine-treated schizophrenic patients and to know the effect of metformin on metabolic profile among non-DM clozapine treated patients.
Sanfilippo syndrome, or Mucopolysaccharidosis (MPS) III, is a rare lysosomal storage disease (LSD) caused by loss in activity of 1 of 9 enzymes necessary for degradation of the glycosaminoglycan (GAG) heparan sulfate (HS) in lysosomes. MPS IIIA results from deficiency of the enzyme heparan N-sulfatase (sulfamidase). In the absence of this enzyme, intermediates of the HS degradation process accumulate in the lysosomes of neurons and glial cells, with lesser accumulation outside the brain. MPS IIIA symptoms arise on average at 7 months of age, with the average age of diagnosis at 4.5 years for the majority of patients. Patients present a wide spectrum and severity of clinical symptoms. The central nervous system (CNS) is the most severely affected organ system in patients with MPS IIIA, evidenced by deficits in language development, motor skills, and intellectual development. In addition, there are abnormal behaviors including but not limited to aggression and excess motor activity/hyperactivity that contribute to disturbances in sleep.Overall, individuals with MPS IIIA have a marked developmental delay and significantly reduced lifespan to 15 years of age on average. The purpose of this study is to collect long term safety and tolerability data in patients with MPS IIIA who previously received rhHNS in study HGT-SAN-055 (NCT01155778).
The purpose of the study was to evaluate optical ocular components in patients with pseudoexfoliation syndrome using optical low coherence reflectometry. A prospective cohort study of 224 eyes of patients planned for cataract surgery was conducted from January 2009 until July 2009. Patients were divided in two groups: the first group of 47 eyes with cataract complicated with pseudoexfoliation syndrome and the control group of 177 eyes with uncomplicated cataract. Each group was further divided into two subgroups based on its refractive state: emmetropes and hypermetropes. The optical low coherence reflectometry biometer LENSTAR® LS 900® was used to define ocular optical components.
The purpose of this study is to estimate the sensibility at the growth hormone in vivo at the children presenting a Prader-Willi syndrome (SPW) in comparison with children presenting a deficit in growth hormone (GHD).