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We list hundreds of Clinical Trials about "Study of Chediak-Higashi Syndrome" on BioPortfolio. We draw our references from global clinical trials data listed on ClinicalTrials.gov and refresh our database daily.
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This study will investigate the underlying cause of Chediak-Higashi syndrome (CHS)-a rare inherited disease-and define the full spectrum of medical complications associated with it. It will study the LYST gene - the gene responsible for classic CHS-and investigate other genes that may cause milder forms of the syndrome. Patients with CHS have a range of medical problems, including decreased pigment in the skin and eyes, a tendency toward bleeding because of a platelet dysfunct...
OBJECTIVES: I. Determine the efficacy of unrelated donor hematopoietic stem cell transplantation in the treatment of patients with life threatening hemophagocytic disorders. II. Determine the rate of disease free survival, incidence of graft failure, and incidence of graft versus host disease in these patients after undergoing this treatment regimen.
This study will try to determine what causes learning, behavioral and emotional problems in children with chronic granulomatous disease (GCD) and other phagocyte disorders. (Phagocytes are a type of white blood cell.) Children with these disorders have frequent severe infections that require hospitalization, sometimes for long periods of time. Many of them also have problems with school, learning, behavior, anxiety and depression. This study will explore whether these latter...
This study will: 1) determine the biochemical and genetic causes of inherited immune diseases affecting phagocytes (white blood cells that defend against bacterial and fungal infections); and 2) try to develop better ways to diagnose and treat patients with these diseases, and to prevent, diagnose and treat their infections. Patients with chronic granulomatous disease (CGD), hyper immunoglobulin-E recurrent infection syndrome (HIE or Job's syndrome), chronic and cyclic neutrop...
To determine the sensitivity and specificity of the visual assessment of BAY 94-9172 PET images in detecting cerebral β-amyloid in individuals with Down Syndrome (DS) compared to individuals without DS. Given that individuals with Down Syndrome develop β-amyloid pathology over the age of 40, the clinical diagnosis of Down Syndrome will serve as the standard of truth
The aim of this study is to assess the frequency of metabolic syndrome in Down syndrome patients because the prevalence of diabetes mellitus and obesity is higher in individuals with Down syndrome than in the general population.
This Study aims to evaluate the efficacy and safety of CDA-2 in the treatment of International Prognostic Scoring System (IPSS) Lower/Intermediate-risk myelodysplastic syndrome (MDS) in Chinese patients.
OBJECTIVES: I. Determine whether Cushing's syndrome and stress-induced pseudo-Cushing's syndrome can be differentiated by evaluating endogenous corticotropin-releasing hormone activity.
The aims of study on Angelman syndrome: (1)establish the Angelman syndrome database (2)to study the brain Network of Angelman Syndrome Based on Multi-modal Brain Image and Neural-EEG Data
Mechanisms that link metabolic syndrome to atherosclerosis are incompletely understood. As a part of Hämeenlinna Metabolic Syndrome Research Program (HMS), 40 men with metabolic syndrome and their 40 physically active controls (age: 30 to 65 years) are compared in a cross-sectional study. Except routine laboratory parameters, arterial elasticity and levels of oxidized LDL are determined. Study hypothesis: Levels of oxidized LDL and findings in arterial elasticity may differ ...
Although for many years the Brugada syndrome has been labelled as a purely electrical disease in the structurally normal heart, the evolution of imaging techniques has enabled the discovery of subtle morphofunctional alterations in some of the Brugada syndrome patients. We will use new echocardiographic techniques to assess cardiac function in these patients and new parameters will be evaluated for their prognostic value as risk stratificators.
The purpose of this study is to gather information about causes and treatment of Antiphospholipid Syndrome.
This study investigates whether blockade of TNF will result in reduced inflammatory indices in patients with the metabolic syndrome
PMSe is designed to evaluate reproductive and HPA axis hormone levels over the course of the menstrual cycle in women with Premenstrual Syndrome. Study objectives are to preliminarily show efficient kinetic modeling and absence of participant burden interfering with participant retention.
This is a single visit study in which people with Down syndrome aged 12-30 will attend the clinical center to undergo assessments to evaluate their eligibility for potential enrollment in the future BP27832 Phase II clinical study which wil l evaluate the efficacy, safety and tolerability of RG1662. Study participants m ay withdraw from this study at any time and for any reason.
Tourette syndrome is rare. In France, about 3000 patients have a severe form of the disease. The aim of this study is to collect clinical characteristics in 200 patients with Tourette syndrome.
Cushing's syndrome is a relatively rare disorder caused by prolonged exposure to high levels of the glucocorticoid hormone cortisol. Cushing's syndrome may result from elevated endogenous or exogenous sources of cortisol. Endogenous Cushing's syndrome resulting from cortisol overproduction by the adrenal glands is the subject of this protocol. Patients with exogenous Cushing's syndrome, which develops as a side effect of chronic administration of high doses of glucocorticoids,...
To evaluate the prevalence of metabolic syndrome in HIV-infected patients with previous evaluation of lipodystrophy syndrome, according to the severity of fat accumulation and antiretroviral drug use.
The purpose of this research study is to find out what effects, good and/or bad, erlotinib has on the patient and their myelodysplastic syndrome. Erlotinib has been approved by the Food and Drug Administration (FDA) to treat non-small cell lung cancer; however, erlotinib use in this study is considered investigational as the FDA has not approved it for the treatment of myelodysplastic syndrome.
Hepatopulmonary Syndrome is a respiratory complication of liver cirrhosis defined as a triad: hypoxemia (PaO2 < 80 mmHg in room air), chronic liver disease and intrapulmonary vasodilatations. Its prevalence varies between 4 and 32%. Numerous treatments have been tried but the only efficient therapy to cure the syndrome is liver transplantation. Without transplantation it is associated with a higher mortality which is the reason why hepatopulmonary syndrome patients have a highe...
This study will investigate whether etanercept will result in improved inflammatory indices, glucose tolerance and endothelial function in patients with the metabolic syndrome.
The purpose of this study is to determine if short term use of rivastigmine can improve functional abilities (for example, language, memory, and executive function) in adolescents with Down syndrome.
This is a Phase 1, open-label, multi-center study of the safety, pharmacodynamics, and pharmacokinetics of RG-012 administered to subjects with Alport syndrome.
The purpose of this study is to evaluate safety, tolerability and preliminary efficacy of SD-809 in the treatment of motor and phonic tics of Tourette Syndrome and to evaluate the pharmacokinetic of SD-809 and its metabolites.
This will be a randomized, double-blind, placebo-controlled, multi-center, Phase 2 study conducted in subjects with Alport syndrome at multiple investigative centers.