View clinical trials related to Metabolism, Inborn Errors.
Filter by:Background: - People with inborn errors of metabolism can t turn food into energy the right way. This can affect a person s growth and health. Researchers want to know how this condition affects a pregnant woman and her baby. Objectives: - To collect data from the medical records of women with an inborn error of metabolism. Also, to create a pregnancy registry of inborn errors of metabolism. Eligibility: - Women with an inborn error of metabolism who either: - have been pregnant in the past, - are currently pregnant, or - have recently talked with their doctor about becoming pregnant. Design: - This study will collect data only. No extra tests will be done. - Participants will be in the study for the length of their pregnancy and for 1 year after delivery. - Participants will answer questions about their family s health. - The participant s doctor will send their medical records to researchers. These may include data about: - Last health care visit before pregnancy - Blood, urine, ultrasound, or lab results during pregnancy - Delivery and recovery after delivery - Researchers will ask for the test(s) used to confirm pregnancy. - After the participant has her baby, researchers will ask for data about how the baby is doing. This may include when the baby is sitting, walking, talking, etc. - The data will be placed into a database. The database will not include the participant s name or identifying data.
This multicenter observational study aims to investigate the benefits of providing pharmacogenetic testing with the YouScript Personalized Prescribing System which includes a clinical decision support tool and individualized pharmacist recommendations to elderly polypharmacy patients who are most at risk of adverse drug events. The YouScript system is unique in identifying drug-gene, and drug-drug-gene interactions that are missed by existing systems, and represent over 35% of significant interaction warnings. Data analysis will assess the impact of recommendations for medication changes on clinical decision making, patient outcomes, and healthcare resource utilization to determine which medications, specialties, or patient segments derive the greatest benefit from this intervention. Data gathered from patients enrolled in this study will be compared to patients matched on key characteristics from Inovalon's MORE2 healthcare database.
The purpose of this study is to determine if physical exercise reduces the adverse changes in adipose tissue metabolism and insulin sensitivity that occurs in women during the menopausal transition.
Patients with cirrhosis are particularly prone to infection which is frequently a precipitant of hepatic encephalopathy, renal failure and circulatory collapse. Bacterial infections are of particular concern in patients with cirrhosis because they are poorly tolerated. Sepsis and associated endotoxaemia whereby bacteria produce inflammatory particles occur in approximately 40% of hospitalized patients with cirrhosis and is a major cause of death. Gut-derived and blood-borne pathogens can induce an inflammatory response within the liver and spleen, which are the major organs that remove bacteria and their endotoxin (such as lipopolysaccharide - LPS and bacterial DNA itself) from the bloodstream. Several mechanisms have been identified and proposed in this process which depends upon a balance between the barrier functions of the gut and the 'detoxifying' capacity of the liver. People with established liver cirrhosis have been shown to have escape of endotoxin into the bloodstream produced by bacteria that reside in their intestines, which becomes more permeable or 'leaky'. Gut dysfunction is defined by changes in the types of bacteria within the gut and in overall permeability allowing bacterial products which would otherwise be contained within the gut to travel into the bloodstream and lymphatic system with detrimental effects elsewhere in the body. This passage of bacterial products is termed bacterial translocation, and it's effects on the liver and general immune system can be then be measured. It has now become recognised that certain types of white blood cells such as neutrophils and monocytes become dysfunctional and this predisposes to infection and may also have a more direct pathogenic role in hepatic encephalopathy. Thus neutrophil and monocytes may be a novel pharmacotherapeutic target in a condition where current therapies such as bowel aperients (e.g. lactulose) are inadequate. A therapeutic strategy utilising Rifaximin, a non-absorbable antibiotic, to modulate gut bacterial which produce ammonia, a chemical known to be important in the cause of hepatic encephalopathy, could potentially lower gut-derived systemic inflammation, endotoxaemia, infection and organ dysfunction in this population improving outcomes and prolonging transplant-free survival. We therefore plan to test if Rifaximin positively affects markers of immune dysfunction in patients with liver cirrhosis experiencing chronic hepatic encephalopathy after 30 days of treatment, as our primary research question. Positive results from this study would support further trials into the potential benefit of using Rifaximin to improve immune function, as well as reduce the recurrence of hepatic encephalopathy, in patients with liver cirrhosis.
Approximately 66 million informal caregivers care for someone who is ill, disabled, or aged. These caregivers experience significant distress associated with caregiving, which may be particularly salient in the context of inherited conditions. Previous studies have not examined caregiving from a network perspective, nor have they considered how cognitive and emotional responses, such as caregivers worry for themselves and relatives acquiring the disease or guilt related to the genetic etiology of their child s illness, as possible stressors; the current project fills this literature gap. Caregiving processes may vary across type of illness and the life course. In illnesses that impact children, parents and grandparents may take on caregiving roles whereas in conditions that impact adults, spouses and adult children may provide care. Caregivers must adapt to the strain of caring for their affected relatives and this adaptation may differ depending on caregiver roles. The caregiver s support network may influence adaptation, impacting the health and well-being of patients, their caregivers, and other relatives. This project, comprised of 5 substudies, will examine social contexts surrounding families involved in caring for individuals with chronic inherited conditions from a relational perspective. Surveys and interviews will assess participants cognitions and emotions about the disease, caregiving burden and caregiving/support network systems. In addition, biomarkers will be considered in 2 substudies to examine how caregiving roles and expectations impact health among caregivers. As part of our current inquiry, we have developed an assessment tool aimed at understanding caregiver experiences related to dietary practices in the context of metabolic conditions. To evaluate the psychometric properties of this scale, we propose a fifth substudy under the current protocol. We aim to recruit at least 5550 participants through residential/daycare centers, advocacy groups, and the NIH Clinical Center. We will recruit formal caregivers, multiple biological and non-biological adult relatives of affected individuals and typically developing controls to construct and evaluate caregiving/support network systems. This project will use a social network framework to develop and adapt common measures of caregiving roles to evaluate burden, perceptual bias, and unmet expectations in caregiving. The psychometric properties of these new measures, characteristics of family caregiving and support networks, and how these network characteristics are associated with caregiving strain and well-being, including biomarkers of physical health, will be investigated. The moderating role of family members cognitions and emotions and disease context will be considered. Findings will guide future research to develop network-based interventions promoting positive adaptation to the presence of inherited conditions in families through improved social environments and coping skills.
Fludarabine is a chemotherapy drug used extensively in bone marrow transplantation. The goal of this study is to determine what causes some children to have different drug concentrations of fludarabine in their bodies and if drug levels are related to whether or not a child experiences severe side-effects during their bone marrow transplant. The hypothesis is that clinical and genetic factors cause changes in fludarabine drug levels in pediatric bone marrow transplant patients and that high levels may cause severe side-effects.
KERATINOCYTE GROWTH FACTOR AND CYTOKINES IN SKIN BURNS. INTRODUCTION: Intense inflammatory responses are activated by burns that affect a large total body surface area. Changes in plasma levels of cytokines after burns occur before metabolic abnormalities unsettle the patient. So it may be possible to develop therapeutic interventions that may attenuate the acute inflammatory response by decreasing the expression of these cytokines. The importance of growth factors in the healing process was demonstrated in cultured keratinocytes and fibroblasts. The keratinocyte growth factor (KGF) is a growth factor active in the repair of wounds, being the most potent stimulator of mitotic cells. PURPOSE: To assess the level of keratinocyte growth factor (KGF) and IL-1ß, IL-6, IL-8, IL-10, IL-12 and TNF-alfa of patients with burns produced by cultured primary dermal fibroblasts and the gene expression. METHODS: 10 patients will be include (05 patients in the study group and 05 patients in the control group) admitted to the Burns Care Unit of the Discipline of Plastic Surgery, Federal University of São Paulo (UNIFESP) between 25% and 50% of total body surface area (TBSA), deep second-degree or third degree, with need to perform surgical debridement. The control group will be constituted by patients with less than 5% of TBSA, deep second-degree or third degree, with need to perform surgical debridement. The authors will evaluate the levels of IL-1ß, IL-6, IL-8, IL-10, IL-12p70 and tumor necrosis factor alpha (TNF-alfa) in samples of the culture media of primary dermal fibroblasts of patients selected using flow cytometry. The level of keratinocyte growth factor (KGF), in the same samples will be evaluated by ELISA. The keratinocyte growth factor (KGF) and TNF-alfa gene expression will be evaluated in the culture of primary dermal fibroblasts from the same patients. The gene expression of KGF and cytokines will be done by qRT-PCR and RT-PCR array. The experiments will be done in duplicate.
The purpose of this study is to investigate the safety and tolerability of AZD8848 in Butyrylcholinesterase deficient subjects in comparison with sex and age matched control subjects.
CD34+ stem cell selection in children, adolescents and young adults receiving partially matched family donor or matched unrelated adult donor allogeneic bone marrow or peripheral blood stem cell transplant will be safe and well tolerated and be associated with a low incidence of serious (Grade III/IV) acute and chronic graft versus host disease (GVHD).
The investigators propose to evaluate the effect of bezafibrate on metabolism during exercise in 22 adult patients affected with carnitine palmitoyltransferase II (CPTII) or very-long chain acyl-CoA-dehydrogenase (VLCAD) deficiencies. This study will be an 9-month, randomized, double-blind, placebo-controlled crossover trial. The trial will be conducted in two centers: Institut de Myologie, Pitié-Salpêtrière Hospital in France, and Rigshospitalet, University of Copenhagen, in Denmark. The main criteria for assessing the potential effect of this drug will be the fat oxidation rate studied during a moderate workload on cycle ergometer, after infusion of stable isotopes (palmitate and glucose tracers).