Active clinical trials for "Syndrome"

The patient numbers with metabolic syndrome and diabetes have doubled in the last decade. Data that physical exercise ameliorates the metabolic syndrome are convincing, although the mechanisms of the effect in man are not clear. Numerous endocrine or molecular mechanisms modified by physical exercise are known to be hypoxia-sensitive, i.e. by hypoxia-inducible factor-1 (HIF-1) regulation. Thus, relative hypoxia may link physical exercise and modification of endogenous metabolism. Medical communities seem ill equipped to address the primary issues involved. The investigators have experience with normobaric "hypoxia chambers" and will now test a (physical exercise) training program, using state-of-the-art assessments available nowhere else in Germany. The investigators will compare hypoxia chamber, to ambient training, to test the notion that specific exercise conditions could regulate specific molecular pathways involved in the pathogenesis of the metabolic syndrome. Indeed, hypoxia chamber training could be superior to conventional training in terms of reducing cardiovascular risk factors or improving fitness. The investigators will test overall metabolism-related effects with a metabolic chamber. The investigators will test local metabolism with microdialysis during exercise routines, and the investigators will perform fat and muscle biopsies to investigate tissue-related effects. The investigators include experience from a broad-ranging spectrum. The investigators findings might improve understanding mechanisms linking physical exercise and endogenous metabolism. Furthermore, they could influence decision-making regarding non-pharmacological interventions.

This study is to compare the exposure of orally administered Prodarsan to the intravenous dosed Osmitrol (10% solution) in Cockayne Syndrome (CS) patients. Also the pharmacokinetics of single and multiple orally dosed Prodarsan will be evaluated and compared to intravenous dose of Osmitrol in CS patients.

Creatine supplementation in RTT: a randomized controlled trial Rett Syndrome (RTT) is a neurodevelopmental disorder characterised by apparently normal early development (stage 1 of RTT) followed by loss of purposeful hand use, distinctive hand stereotypes, slow brain growth, loss of language, respiratory irregularities, gastrointestinal disturbances, gait abnormalities, seizures, and mental retardation. These symptoms typically appear between 6 and 18 months of age (stage 2). Subsequently, there is gradual stabilisation of severe mental retardation and motor compromise (stage 3). The majority (70% to 80%) of patients show mutations in the methyl-CpG-binding-protein-2 (MeCP2) gene, located on chromosome Xq28. MeCP2 encodes a transcription repressor protein that is ubiquitously expressed in all tissues. As RTT primarily affects females, only very few males with mutations in MeCP2 have been identified. Mutations in MeCP2 have also been identified in children with X-linked mental retardation, autism and a clinical phenotype that resembles Angelman Syndrome. The aim of this study is to investigate the effects of a dietary supplement on the biochemical and clinical parameter of RTT. About 80 % of labile methyl groups generated through the re-methylation cycle are used for the synthesis of creatine within the human organism. Supplementation of creatine will therefore increase the availability of labile methyl groups for different methylation reactions including methylation of DNA. The study will be double blind and cross-over. The patients will get creatine monophosphate (200 mg/kg/d in three dosages per day) or placebo. After 6 months and a wash-out period of 4 weeks the groups are changed for the next 6 months. All participants with RTT and mutations in MeCP2 will undergo physical and neurological exam, quantitative EEG, behavioral assessment, laboratory testing, and neuropsychological evaluations. Participants will have a follow-up after 3, 6, 10, 13 and 16 months (3 months after finishing the study), which will include similar assessments.

A randomized, open, parallel, multi-center trial to evaluate weight loss efficacy of Smart Care Service in obese patients with metabolic syndrome.

RATIONALE: Caspofungin acetate may be effective in treating fungal infections in patients with acute myeloid leukemia or myelodysplastic syndrome who are receiving treatment for their cancer. It is not yet known whether caspofungin acetate is more effective when treatment starts after development of a fever or after the infection is shown in laboratory test, chest x-ray, or CT scan. PURPOSE: This randomized phase III trial is studying the best time to start caspofungin acetate therapy in treating patients with acute myeloid leukemia or myelodysplastic syndrome that is newly diagnosed or in first relapse.

The aim of this study is to characterize the pharmacokinetics and safety/tolerability of AFQ056 in children with Fragile X Syndrome(FXS)

The purpose of this study is to examine the acute health effects of concentrated ambient ultrafine (UF) particulate matter (PM) exposure in patients with metabolic syndrome. Without lifestyle changes or medical intervention these patients are at considerable risk for developing diabetes and cardiovascular disease. Subjects (25-70) were exposed to both UF PM and filtered air for 2hr (at least 2 week interval), physiologic endpoints were measure pre-, post-, and 20hr post-exposure. Our hypothesis is that PM exposure in this population will result in changes in vascular and endothelial response as assessed by flow-mediated dilatation of the brachial artery and various heart rate variability and blood endpoints. This study and similar studies of susceptible populations are needed to provide the EPA with information regarding the health risks associated with ambient levels of UF PM.

Metabolic syndrome (MS) is a clustering of risk factors for cardiovascular disease (CVD) such as hypertension, hypertriglyceridemia, low HDL-cholesterol levels, disorders of glucose metabolism, and insulin resistance. A number of associated conditions are included in the MS spectrum such as abdominal obesity, systemic inflammatory activation, endothelial dysfunction, non-alcoholic fatty liver disease, hyperuricemia, polycystic ovarian syndrome, and microalbuminuria. As a consequence, the diagnosis of MS identifies patients who are at increased risk for type 2 diabetes mellitus and CVD. In the last few years, the potential for MS to trigger renal damage and accelerate the progression of pre-existing nephropathy has become a focus of research. Some studies have suggested that MS can influence the development of CKD, although the underlying mechanisms are not well understood. In this study, the investigators hypothesized that modifying a key component of the MS, namely obesity, could attenuate renal damage. The investigators examined the impact of weight loss on creatinine clearance and urinary albumin excretion in non-diabetic obese patients with MS.

The purpose of this study is to assess study subjects' adherence to different weight control intervention programs and the effect of intervention programs on physical and biochemical examinations, physical fitness, food intake and exercise behaviors and the prevalence of metabolic syndrome and its components' abnormalities.

RATIONALE: Giving low doses of chemotherapy, such as fludarabine, and radiation therapy before a donor bone marrow or stem cell transplant helps stop the growth of cancer cells. It also stops the patient's immune system from rejecting the donor's stem cells. The donated stem cells may replace the patient's immune system and help destroy any remaining cancer cells (graft-versus-tumor effect). Sometimes the transplanted cells from a donor can also make an immune response against the body's normal cells. Giving cyclophosphamide, mycophenolate mofetil, and tacrolimus after transplant may stop this from happening. PURPOSE: This phase I trial is studying cyclophosphamide and/or mycophenolate mofetil with or without tacrolimus to see which is the best regimen in treating patients who are undergoing a donor bone marrow or stem cell transplant for hematologic cancer.