616 Clinical Trials for Various Conditions
The purpose of this research is to study the natural history of congenital disorders of glycosylation and its causes and treatments.
Researchers are trying to assess whether the use of simple sugars given as a daily dietary supplement can improve the health of children with congenital disorders of glycosylation (CDG).
The goal of this study is to better characterize the metabolic alterations and sugar structure alterations (glycosylation abnormalities) in patients diagnosed with Congenital Disorders of Glycosylation. The investigators aim to assess the safety and tolerability of oral galactose treatment in a small pilot group of Congenital Disorders of Glycosylation patients. The investigators will also determine the relationship between simple milk sugar intake (galactose dose) in the diet and the blood and urine markers of protein glycosylation abnormalities.
Background: - Proteins, fats, and other molecules are the body s building blocks. Many of these molecules must have sugars, or chains of sugars, attached to work properly. People with congenital disorders of glycosylation (CDGs) cannot attach these sugars or sugar chains properly. A child or adult with a CDG can have symptoms in different parts of the body, including brain, nerves, muscles, liver, and immune system. Researchers want to learn more about these diseases to understand better what is causing the problems. Objective: - To learn more about CDGs. Eligibility: - People 1 month to 2 years old may be seen as outpatients or by telehealth. Patients 2-80 years with CDG or suspected to have a CDG may be seen under this protocol as inpatients, outpatients or by teleheath. Design: * CDG participants may be seen as inpatients, outpatients or by teleheath. Inpatient stays may last 2-5 days. * They will have:-Medical history and physical exam. They will answer questions about their CDG. * Blood taken several times. Their skin will be numbed, then a needle will take blood from an arm vein. * Samples taken of their skin, urine, and maybe stool and spinal fluid. * Photos taken of their whole body. They can wear underwear and cover their eyes. * Brain MRI. They will lie on a table that slides in and out of a metal cylinder. The scanner makes loud knocking noises so they can wear earplugs. * Abdomen ultrasound. Sound waves take images of the body from the outside. * Hand/wrist X-rays for young patients. They may have a full-body X-ray. * DEXA bone density scan. Participants will lie on a table under a scanner. * Echocardiogram and electrocardiogram for heart activity. Pads are stuck on the skin and the electrical activity of the heart is recorded. * Tests of hearing, thinking, motor skills, and speech. * Children participants may have tests done under sedation if it will benefit them directly. * CDG participants may have other procedures during their visit. They may have follow-up visits every year.
This is an open-label, non-randomized, multi-center trial designed to provide expanded access of deferasirox to patients with congenital disorders of red blood cells and chronic iron overload from blood transfusions who cannot adequately be treated with locally approved iron chelators.
This study will examine rare congenital disorders that involve malformations and abnormal growth. It will focus on patients with Proteus syndrome, whose physical features are characterized by overgrowth, benign tumors of fatty tissue or blood vessels, asymmetric arms or legs, and large feet with very thick soles. The study will explore the genetic and biochemical cause and course of the disease, the changes in symptoms over time, and the effects of the disease on patients. Patients with Proteus syndrome may be eligible for this study. Study candidates will have a medical history and physical examination, including X-rays and possibly other imaging tests, such as computerized tomography (CT), magnetic resonance imaging (MRI) and ultrasound. Other tests and examinations may be done if needed. Those enrolled in the study will have will be interviewed or complete questionnaires, or both, about how their disease affects them. Patients will provide a small blood sample for research and may be asked to undergo biopsies from a normal area of skin and from a tumor. ...
The goal of this observational study is to determine the incidence of perioperative cerebral desaturation in neonates undergoing surgery for congenital malformations. The main questions it aims to answer are: 1. The perioperative factors associated with occurrence of cerebral desaturation 2. The association between perioperative cerebral desaturation, perioperative/hospital outcomes, and physiological conditions. Participants will undergo Near-infrared spectroscopy (NIRS) and electroencephalogram (EEG) monitoring for one hour before surgery, during surgery, and up to 24 hours after surgery.
This is a multicenter, randomized, double-blind, placebo-controlled, cross-over study to evaluate the efficacy and safety of AVTX-801 in subjects with SLC35A2-CDG
This is a clinical trial to evaluate the efficacy of AVTX-801 (D-galactose) on the clinical manifestations of PGM1-CDG in participants currently taking D-galactose.
Researchers are trying to determine the efficacy of a global metabolomic approach in testing for and diagnosing inborn errors of metabolism as opposed to traditional testing methods.
Approximately 40,000 infants are born each year in the United States with congenital heart defects (CHD), and heart defects are the leading cause of birth defect-related deaths in the United States. While advances in surgical treatment, cardiac bypass, and post-operative management have improved mortality for children born with heart defects, these children continue to have significant morbidity related to post-operative malnutrition, multiple organ dysfunction (MODS), and sepsis. Proposed mechanisms for post-operative sepsis and MODS is via loss of intestinal epithelial barrier function (EBF) or intestinal micro biome diversity. The purpose of this multi-center observational cohort study is to understand the extent to which practice variation for routine post-operative care might worsen intestinal barrier dysfunction and reduce diversity of the intestinal microbiome for infants undergoing surgical correction of left sided cardiac obstructive defects. We will enroll 80 children with left sided obstructive congenital cardiac lesions across several US congenital cardiac centers to obtain clinical data and biological specimens. We will leverage existing differences in nutritional and antibiotic strategies at these centers to better understand how intestinal barrier function and the intestinal microbiome may contribute to post-operative multiple organ dysfunction syndrome.
This trial investigates whether prenatal intervention improves survival rate of fetuses with isolated congenital diaphragmatic hernia and severe pulmonary hypoplasia, as compared to expectant management during pregnancy, both followed by standardized postnatal care.
Long QT syndrome (LQTS)is a cardiac disorder that may lead to ventricular arrythmias and culminate in syncope and/or possible death. Recently, researchers have developed a way of discovering patients with LQTS by using low doses of epinephrine by a continuous, intravenous infusion in adults. Epinephrine, or adrenaline, is produced by our bodies in times of stress. By producing adrenaline, your body allows itself to adapt to its stressful environment and take appropriate actions (i.e. fight or flight response). By simulating this response with very small amounts of epinephrine, researchers have shown prolongation of the QT interval does not occur in normal healthy adults. However, adults with confirmed LQTS Type 1 (LQTS-1) will prolong their QT interval when given low dose epinephrine. Therefore, this test can act as a safe means of identifying adults with LQTS-1 who do not have prolonged QT intervals on their resting EKGs. However, LQTS is not just a disease of adults, it affects children as well. Currently the standard of care is to obtain resting EKGs on our pediatric patients which can miss those patients with concealed LQTS. Those patients, who are old enough, can undergo exercise testing. Yet this leaves young children unable to run on a treadmill without a diagnostic test. Hypothesis: The low-dose epinephrine infusion stress test does not cause prolongation of the QT interval in an electrophysiologically normal healthy pediatric population.
Brain injury occurs in one-quarter to one-half of congenital heart defect infants during the perioperative period. A blood test using a biomarker to diagnose brain injury would be important. Postoperative cerebral ischemia may be decreased by inotropic support, ventilation, medical management aimed at increasing oxygen delivery to the brain. Currently there are no FDA approved blood tests to assess brain ischemia in infants undergoing cardiac surgery. Specific Aim 1: We will prospectively study 10 neonates (\< 30 days of age) undergoing cardiac surgery utilizing cardiopulmonary bypass for arterial switch operation or Norwood operation to determine the specificity and sensitivity of a blood test for brain injury. This aim will be accomplished by analyzing blood samples for S-100 and NSE drawn prior to surgery, once each day following cardiac surgery as long as the patient remains in the intensive care unit (maximum 5 days)and at the time of postoperative brain magnetic resonance imaging. The S-100B and NSE values will then be correlated with brain magnetic resonance imaging studies before cardiac surgery and at following cardiac surgery. Hypothesis: We expect the concentration of S-100B and NSE will be significantly higher in the blood of neonates with congenital heart disease who have documented brain injury on brain magnetic resonance imaging (MRI). Furthermore, we predict that the blood levels of S-100B and NSE may correlate to clinical outcome (time to extubation, hospital discharge, neurodevelopmental outcome at 6 months of age). Specific Aim 2: We will prospectively study these neonates at 6 months following cardiac surgery to determine a correlation between neurodevelopment and concentration of S-100B and NSE. To achieve this specific aim, a blood sample for S-100B and NSE and neurodevelopmental testing will be done at 6 months following cardiac surgery. Hypothesis: We expect neonates with elevated S-100B and NSE and abnormal brain magnetic resonance imaging documented in specific aim 1 to have a significant decline in neurodevelopment at 6 months after cardiac surgery. Long-term: The long-term goal of this research is to diagnose brain ischemia in infants using a biomarker blood test.
Many children undergoing surgery for congenital heart disease have had prior operations. Re-operative sternotomy carries with it the risk of cardiac injury and the need for emergent peripheral cannulation. Our first aim is to demonstrate that peripheral arterial cannulation may be lifesaving in cases of complicated sternal re-entry in children and that angio-catheters can be utilized when vessels are too small for standard cannulas. Our secondary aim is to present a case report of successful femoral cannulation in a 5 kg child.
This is a retrospective review of charts and echocardiograms of our patients with Total Anomalous Pulmonary Venous Connection (TAPVC). The Children's Surgical and non-invasive Echo databases will be used to determine all TAPVC patients. Children's Healthcare of Atlanta and Sibley Heart Center Cardiology charts and echocardiograms of the TAPVC patients between January 1, 2002 and November 26, 2006 will be reviewed. We anticipate approximately 40 patients. We hypothesize that the presence of descending aortic flow reversal correlates with a higher morbidity and mortality in TAPVC.
The purpose of this study is to examine the outcomes of those who have received Daclizumab as part of their immuno-suppression protocol following heart transplantation. Literature suggests that the time to first rejection episode can be avoided or delayed by using induction therapy.
Children's Healthcare of Atlanta (Children's) is collaborating with Child Health Corporation of America (CHCA) in the nationwide effort to reduce catheter related blood stream infections (BSIs). "As well as the human cost, central venous catheter related bloodstream infections significantly inflate hospital costs, mainly through increased length of stay in hospital, particularly in intensive care" (Jones, 2006). The Cardiac Intensive Care Unit (CICU) is participating in this initiative by implementing the BSI "Bundles" per the CHCA guidelines. BSI "bundles" are a group of patient care practices designed to reduce BSI infection rates with implementation in patient care areas. The bundles include recommendations for central line maintenance including line insertion, dressing changes, line accesses, and monitoring for medical necessity. These bundles were implemented on January 16, 2006, when the BSI rate in the CICU had peaked at 18.2 (rate of infections per 1000 catheter days). The BSI rates historically for the past two years have been highly variable (see attached graph for data from Jan. 04 through Oct. 06). The target goal is to maintain a rate below 3.7 which has only been realized twice since the January BSI bundle implementation. Current practice for the care of central lines outlined in the BSI Bundles is based on the Centers for Disease Control and Prevention (CDC) guidelines published in 2002. These guidelines included important changes to practice involving the use of chlorhexidine (CHG) containing products for improved infection prevention. CHG solutions are currently available as either 2% or 3.15% chlorhexidine gluconate in a 70% isopropyl alcohol solution. The Primary Aim is to determine if CHG is effective as an antiseptic wipe for accessing lines to draw blood and administer medications. Compare the effectiveness of CHG containing alcohol wipes (3.15% CHG/70% isopropyl alcohol) to plain alcohol in order to determine best practice for the CICU.
Heterotaxy syndrome is a heterogeneous disease that is the result of a failure of normal right-left lateralization of the abdominal and thoracic organs during development. The major clinical manifestations include intestinal malrotation, functional asplenia and complex cyanotic heart disease. Hypothesis: There exists a yet, un-recognized, racial distribution in heterotaxy syndrome.
Mortality after neonatal cardiac repair remains significant, and neonates who have undergone operative repair of congenital heart disease may experience sudden and unexpected demise. Most of these deaths occur within the first 72 hours and have been attributed to poor systemic cardiac output. The literature currently does not define an early and reliable predictor of poor post-operative outcome in children with congenital heart disease who have recently undergone surgery. The investigator wishes to perform a retrospective chart review to independently define the predictive values of both NIRS score and serial serum lactate levels in the setting of early post-operative morbidity.
Evidence has shown poor outcome for adult patients with pre-operative pulmonary hypertension following closure of an atrial septal defect. Life-threatening pulmonary hypertensive crises may occur in these patients when they no longer have an atrial communication to decompress high right heart pressures. This concern has led some to advocate fenestrated patch closure of ASDs in patients with pulmonary hypertension with the prospect of a repeated procedure in order to close the fenestrations at a later date.
Transplant rejection following organ transplant occurs because the recipient's immune system attacks the transplanted organ. The recipients immune system recognizes the transplanted organ as foreign tissue and attempts to destroy it in the similar way that it attempts to destroy infectious agents such as bacteria and viruses. The human leukocyte antigen (HLA) system is a set of genes that is responsible for controlling an individuals' ability to tell the difference between an infectious agent and self tissue. Differences in HLA genes between donors and recipients play a major part in influencing the rejection or acceptance of foreign tissue (i.e. transplanted organs). Due to time limitations in heart transplantation, HLA matching is not considered. It is unclear how individual HLA differences affect the recovery and expected lifespan of pediatric heart transplant recipients. This study is designed to look at the donor-recipient matching and mismatching to determine if mismatching leads to more complications, shorter graft survival and, therefore, increased risk of death following pediatric heart transplantation.
It is now estimated that the number of adults with congenital heart disease in the U.S is over 800,000. Unfortunately, these patients, in some way, have become a lost population. They have congenital abnormalities familiar to a children's hospital, yet have surpassed the age cutoff for admission. Recently, we have developed a specialized program to care for this unique patient population. Dedicated programs such as ours hope to optimize patient care, consolidate specialized resources, provide sufficient patient numbers for training and maintain expertise and facilitate research in this unique population.
Pulmonary valve replacement in the adult population is an uncommon operation. The majority of native valve pathology in adults involves the mitral, aortic, and occasionally tricuspid valves. On the other hand, right ventricular outflow tract and pulmonary valve disease is quite common in children, especially with tetralogy of fallot, truncus arteriosus, pulmonary atresia/ventricular septal defect, and double outlet right ventricle. Unfortunately, right ventricular pathology often develops in adulthood as a result of pulmonary insufficiency or pulmonary stenosis created by previous childhood operations. Without the valve size constraints present at prior operations, these patients can be well-served by the placement of adult-sized bioprosthetic valves. There are limited descriptions in the adult cardiac literature of the actual technique of pulmonary valve replacement. We present our current technique and the pitfalls encountered when performing pulmonary valve replacement in adults.
The purpose of this study is to evaluate the exercise capacity of patients with complete heart block who are chronically being paced from the right ventricle. Also, we hope to correlate the level of uncoordinated contraction with the patients exercise capacity. We will enroll patients with complete heart block as diagnosed by standard electrocardiographic means and now have a permanent pacemaker. All patients we approach for this study will receive an echocardiogram to assess their heart function. As part of the echocardiogram, they will also receive a Tissue Synchronization Imaging (TSI) evaluation to assess the level of uncoordinated contraction they have. The patients will then be subjected to a cardiac exercise stress test which will involve them running on a treadmill until they cannot continue while data is collected regarding their heart's response to exercise. All portions of the study are noninvasive, which means they work from probes and monitors outside the body.
The purpose of this project is to analyze the respiratory motion process as relevant in cardiac MRI imaging and apply the results for development of improved imaging methods and software correction. To accomplish this, we will develop an imaging protocol for monitoring respiratory motion. The imaging protocol will be limited to less than five minutes of acquisition time so it may be performed as "piggyback" acquisition following clinically prescribed imaging studies on pediatric and adult cardiac MRI patients, but will also be applied to normal healthy volunteers. Hypothesis Characterization of respiratory motion will help improve image quality by allowing optimized scan acquisition and retrospective correction of acquired data.
The purpose of this current retrospective study is to perform follow-up analysis on the 22 children from the study # 621-2004 It is important to examine whether an elevated biomarker of brain ischemia before and/or following cardiac surgery has any clinical or functional implications as the child ages.
This proposal is aimed at developing a novel method for modeling and analyzing clinical factors impacting RV function, which can lead to a more reliable, consistent, and comprehensive pre-operative treatment planning. In particular, the proposed work centers on the creation of an accurate and clinically useful heart model with which to quantify, visualize, and interpret several clinical findings that are central to the medical decision-making process. The hypothesis is that by providing clinicians with 3D models that capture numerous relevant patient findings in an integrated, quantitative manner they can make more consistent, reliable, and accurate clinical assessments and may also be able to predict factors complicit in RV dysfunction and impending failure.
Our hope is that the information from this retrospective study will provide information to better serve our patients and their parents with risk stratification (levels of risk) and clinical expectations of patients after cardiac surgery who have genetic abnormalities and those who do not have genetic abnormalities.
The purpose of this retrospective study is to identify all neonates (newborns \< 30 days of age) from January 1, 2002 through June 20, 2006 at Children's Healthcare of Atlanta who have suffered neurological complications following cardiac surgery. This retrospective study is important to identify the incidence, care and follow-up of neurological complications at this institution