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 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
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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This is a phase I/II open label multi-center study in which patients will receive low dose targeted busulfan followed by infusion of autologous CD34+ selected bone marrow or mobilized peripheral blood
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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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The investigators want to study if lower doses of chemotherapy will help babies with SCID to achieve good immunity with less short and long-term risks of complications after transplantation. This
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The Goal of this study is to investigate if individuals ages 12 years and older, carrying the IL-4RαR576 gene variant, will have a greater response to therapy acting directly on the anti-IL-4R. This
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Despite major technological advances, management of type one diabetes mellitus (T1D) remains suboptimal, putting millions of people at risk for immediate and long-term complications. After meals, a
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This research study is evaluating the investigational software for magnetic resonance imaging (MRI) systems and techniques to process magnetic resonance (MR) images
This phase II trial studies how well naive T-cell depletion works in preventing chronic graft-versus-host disease in children and young adults with blood cancers undergoing donor stem cell transplant.
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