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We list hundreds of Clinical Trials about "Zellweger syndrome" on BioPortfolio. We draw our references from global clinical trials data listed on ClinicalTrials.gov and refresh our database daily.
We have published hundreds of Zellweger syndrome news stories on BioPortfolio along with dozens of Zellweger syndrome Clinical Trials and PubMed Articles about Zellweger syndrome for you to read. In addition to the medical data, news and clinical trials, BioPortfolio also has a large collection of Zellweger syndrome Companies in our database. You can also find out about relevant Zellweger syndrome Drugs and Medications on this site too.
The purpose of this study is to characterize the symptoms of Zellweger Spectrum Disorder (ZSD) and related peroxisome disorders, and to assess the quality of life of family caregivers (parents, stepparents, legal guardians) of patients diagnosed with ZSD or a related peroxisome disorder. All family caregivers of patients enrolled in the Rare Diseases Clinical Research Network (RDCRN) Contact Registry who are diagnosed with ZSD or a related peroxisome disorder will be invited vi...
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.
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.
A registry focused on the natural history, management and treatment of patients with Bohring-Opitz Syndrome (ASXL1), Shashi-Pena Syndrome(ASXL2) and Bainbridge-Ropers Syndrome (ASXL3).
The purpose of this study is to develop a database containing clinical and laboratory information for patients with Leigh syndrome. The goal is to provide a greater understanding of Leigh syndrome allowing further characterization of this disease.
The purpose of this study is to investigate the Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome (VCFS), Williams Syndrome (WS)and Fragile X Syndrome Characterization, Treatment and Examining the Connection to Developmental and Molecular Factors
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 purpose of this study is to find out the proportion of patients diagnosed with Lynch syndrome in colorectal cacner patients meeting Chinese Lynch syndrome criteria. Besides, this study is aimed to analyze the clinical characteristics and germline mutation of Lynch syndrome in Chinese population.
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 ...
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 overall significance of this study is to develop a laboratory developed test (LDT) to use a new marker in the maternal blood to better identify pregnancies that have a child with a chromosome abnormality such as Down syndrome (trisomy 21), Edward's syndrome (trisomy 18), Patau syndrome (trisomy 13), Klinefelter syndrome, (47, XXY), and other chromosome abnormalities. Accomplishing that task would reduce the need for invasive amniocentesis and CVS procedures.
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
The objective is to collect skin biopsies rom patients with Costello syndrome to analyze the molecular mechanisms responsible for this syndrome caused by a mutation in the HRAS gene and the effects of this mutation on energy metabolism and mitochondrial physiology.
Metabolic syndrome, labeled as the world's latest epidemic, is the force behind the global epidemic of Type 2 Diabetes Mellitus and Cardio Vascular Diseases. This emerging epidemic is an important public health problem for South Asians in their homeland and worldwide. Pharmacological therapy is a critical step in the management of patients with metabolic syndrome. In general, treatment for metabolic syndrome, that targets all or most of the components of metabolic syndrome is ...
The research is devoted to studying the features of the metabolic syndrome in cancer survivors in childhood is supposed to answer the following questions: - How can metabolic syndrome be diagnosed in the Russian population of survivors of acute lymphoblastic leukemia and non-Hodgkin's lymphomas? - What are the features of the clinical symptoms of metabolic syndrome in this category of patients? - Which genetic mutations are found in cancer survivors ...
This study may provide information that may serve as the foundation for a larger research study to address issues regarding the causes, diagnosis, and treatment of osteoporosis in the Down syndrome patient population.
The purpose of this study is to compare a fixed-schedule therapy versus a symptom-triggered therapy for alcohol withdrawal syndrome in medical outpatients. Objectives: - Self-governance in monitoring AWS (alcohol withdrawal syndrome) symptoms and medication - Clinically controlled trial of two regimens for medical treatment of alcohol withdrawal syndrome - Outpatient treatment of alcohol withdrawal syndrome
We want to test the hypothesises that patients with nephrotic syndrome have a higher excretion of AQP2 in the urine,that they have a higher concentration of AVP,and a lower C-H2O.Everything will normalize, when the syndrome is in remission.Furthermore we want to test the hypothesis that the expression of mutations in the NPHS2-gene,that codes for podocin,will cause a lack off or a poorer response in the treatment of nephrotic syndrome
The objective of this research is to verify the language of children with Down syndrome concerning lexical, syntactic and semantic aspects using MLU. The hypothesis is that children with Down syndrome will present low performance, regarding not only the quantitative measures as MLU-m, MLU-w, GM-1 and GM-2, but also regarding the qualitative aspects of their production, when compared to children with typical development.
OBJECTIVES: I. Determine the pattern of immunologic reconstitution in patients with T-cell compromise due to DiGeorge syndrome or velocardiofacial syndrome. II. Determine any correlation between immunologic function in these patients and chromosome 22 deletion breakpoints. III. Determine presence of sustained immunologic compromise in older patients.
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,...
1. PHACE syndrome(OMIM database number 606519) is the association of a vascular birthmark (hemangioma) on the face along with one or more of the following conditions: congenital heart defects, congenital anomalies of the cerebral arteries,brain, eyes, or sternum. 2. A research study is currently being conducted at the Oregon Health & Science University to investigate if there is an inherited cause of PHACE syndrome. 3. We are hoping that this study will lea...
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.
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...
Hyperventilation syndrome is associated with impaired quality of life. The aim of the study is to assess the relationship between work productivity, including absenteeism and presenteeism, and the severity of hyperventilation syndrome