Without an explanation for severe and sometimes life-threatening symptoms, patients and their families are left in a state of unknown. Many individuals find themselves being passed from physician to
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The purpose of this study is to determine cross-sectional and longitudinal medical, behavioral, and cognitive differences between PTEN ASD and other groups, as well as to identify cognitive, neural
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This study uses frequency domain near-infrared spectroscopy coupled with diffuse correlation spectroscopy (FDNIRS-DCS) technology for monitoring cerebral blood flow (CBF) and cerebral oxygen
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Rapid onset Obesity, Hypoventilation, Hypothalamic dysfunction and Autonomic Dysregulation (ROHHAD) is a syndrome named in 2007. The hallmark of the syndrome is the rapid onset obesity and
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The Gene Discovery Core at The Manton Center for Orphan Disease Research based at Boston Children's Hospital studies families with rare, poorly understood or undiagnosed, but suspected genetic
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The purpose of this study is to improve the ability of the investigators to monitor brain health in newborn babies at risk of brain injuries. The researchers will be using an investigational system of
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The goal of Advanced Fetal Imaging - Phase II is to advance fetal MRI imaging by designing MRI coils specifically for pregnant women and testing recently developed MRI image acquisition techniques.
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The investigators propose a robust therapeutic intervention to ameliorate myocardial ischemia/ reperfusion injury and significantly decrease morbidity and mortality in patients requiring
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The purpose of this initiative is to improve care and outcomes for infants with HLHS by expanding the NPC-QIC national registry to gather clinical care process, outcome, and developmental data on
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In proximal urea cycle disorders (UCD), particularly ornithine transcarbamylase deficiency (OTCD), hyperammonemia (HA) causes increased brain glutamine (Gln) which perturbation is thought to be at the
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The purpose of the study is to characterize the clinical course of homocystinuria in pediatric and adult patients aged 1 to 65 years under current clinical management practices
Gastrointestinal (GI) dysfunction affects up to 50% of medical and surgical critically ill children. GI dysfunction, specifically gastric dysmotility and loss of epithelial barrier integrity, is
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The purpose of this study is to identify genes associated with impaired development and function of the cranial nerves and brainstem, which may result in misalignment of the eyes (strabismus) and
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Acute kidney injury (AKI) is common in children after cardiac surgery with a reported incidence of 20-40%. Pediatric AKI has been found to be associated with important short and long-term adverse
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A national data registry of patients receiving fecal microbiota transplantation (FMT) or other gut-related-microbiota products designed to prospectively assess short and long-term safety and
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The purpose of this study is to conduct post-marketing surveillance of carglumic acid (Carbaglu) to obtain long-term clinical safety information. Carglumic acid was approved by the United States Food
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In this research study we want to learn more about using non-invasive tools as a way to predict whether or not a child under general anesthesia will require and respond to fluid administration.
It is
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Children with inadequate intestinal absorption due to loss of large amounts of small bowel require intravenous nutrition (feeding through the vein) to sustain hydration and nutrition to avoid
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This study will measure plasma concentrations of bivalirudin in pediatric patients undergoing cardiac catheterization, cardiac surgical procedures utilizing cardiopulmonary bypass (CPB), or
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This study will measure plasma concentrations of dexmedetomidine, fentanyl, morphine and midazolam in pediatric patients supported with extracorporeal membrane oxygenation (ECMO) aiming to understand
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