May 20th, 2022 - Computed Tomography (CT) images the body. Different methods of creating CT pictures are avilable on a research basis that enables higher resolution imaging using the same aquisition. The purpose of this research study is to learn wheteher these new high resolution images derived from the original CT scan provide similar or perhaps more information than the current standard clinical method.

May 20th, 2022 - Our goal with the Williams syndrome (WS) and Supravalvular Aortic Stenosis (SVAS), deoxyribonucleic acid (DNA) and Tissue Bank is to collect enough samples from individuals with these rare conditions to ask questions about the genes that cause the many WS and SVAS related phenotypes, and to determine the genetic and environmental changes that modify the severity of disease from person to person...

May 20th, 2022 - The investigators hypothesize that temporal interference non-invasive deep brain stimulation (TI-NDBS) will be well tolerated and effective at manipulating brain activity and reducing drug cravings. The investigators will investigate whether stimulation with a mild current from temporal interference non-invasive deep brain stimulation (TI-NDBS) to the Anterior Cingulate Cortex (ACC), the anteri...

May 20th, 2022 - Background: Mutations involving BRCA1-Associated Protein-1 (BAP1), a nuclear deubiquitinase involved in epigenetic regulation of gene expression, DNA repair, and cellular energetics, have emerged as one of the most common somatic mutations in malignant mesotheliomas. Germline mutations involving BAP1 predispose individuals to mesothelioma as well as a variety of other malignancies including lun...

May 20th, 2022 - Emergency study to test the safety of Descartes-30 cells in patients with moderate-to-severe acute respiratory distress syndrome (ARDS) AND COVID-19

May 20th, 2022 - Allogeneic hematopoietic stem cell transplantation (aHSCT) can cure patients with a variety of bone marrow failure syndromes (BMFS) including severe aplastic anemia (SAA), paroxysmal nocturnal hemoglobinuria (PNH) or myelodysplastic syndrome (MDS) associated with cytopenias. Patients with BMFS have traditionally been transplanted with bone marrow (BM) as a stem cell source. Although chronic gra...

May 20th, 2022 - Williams syndrome (WS) is a rare disorder caused by hemizygous microdeletion of approximately 1.6 megabases on chromosomal band 7q11.23, typically by spontaneous mutation. The disorder is characterized by a collection of unique neuropsychiatric manifestations, including marked visuospatial construction deficits and hypersociability. Because the genes involved in WS are known, the study of neura...

May 20th, 2022 - The purpose of this Phase 2a, randomized, blinded, placebo-controlled, multi-center study is to evaluate the safety, tolerability and immunogenicity of INO-4700 administered by intradermal (ID) injection followed by electroporation (EP) using the CELLECTRA™ 2000 device in healthy adult volunteers for Middle East Respiratory Syndrome Coronavirus (MERS-CoV) infection. This study is divided into 2...

May 20th, 2022 - Objective: The primary objective of the proposed studies is to utilize neuroimaging (functional Magnetic Resonance Imaging [fMRI], structural MRI [sMRI], Magnetoencephalography [MEG]) and neuropsychological tools (eye-tracking, cognitive experiments, clinical neuropsychological measures, questionnaires, etc.) to identify cognitive idiosyncrasies (e.g., social-cognitive deficits, visual perceptu...

May 20th, 2022 - Objective: The primary objective is to explore the clinical and biological phenotypes of post-infectious myalgic encephalomyelitis/chronic fatigue syndrome (PI-ME/CFS). The secondary objective is to explore the pathophysiology of fatigue and post-exertional malaise (PEM). Study population: Up to 206 persons will be enrolled as part of this protocol. Up to 150 persons aged 18-60 will be part of ...

May 20th, 2022 - Background: Chronic graft-versus-host disease (cGVHD) is the leading cause of non-relapse morbidity and mortality in persons after allogeneic hematopoietic stem cell transplantation (SCT). Bronchiolitis obliterans syndrome (BOS) is a complication of cGVHD associated with a high morbidity and mortality, and treatment options are limited. Neutrophil elastase (NE) is a protease released by neutrop...

May 20th, 2022 - Biosynthesis of proteins is essential for growth and continued maintenance of the entire neuron including axons, dendrites, and synaptic terminals, and it is clearly one of the important biochemical processes underlying adaptive changes in the nervous system. Studies in experimental animals with the quantitative autoradiographic L-[1-(14)C]leucine method have demonstrated a number of the physio...

May 20th, 2022 - Williams syndrome (WS) is a multisystem developmental disorder caused by deletion of 26-28 genes, including the elastin gene, located on chromosome 7q11.23. Cardiovascular disease in WS, including obstructive vascular disease and hypertension, and relatively mild skin changes are caused by the elastin gene deletion. Even though all WS subjects are missing one copy of this gene, the expression o...

May 20th, 2022 - The aim of this protocol is to allow genetic-related evaluations for patients with a variety of known or suspected genetic disorders, supplement and offer an additional opportunity for training in clinical genetics, dysmorphology and metabolic genetics in the National Institute of Child Health and Human Development (NICHD) and other Institutes of the National Institutes of Health (NIH). If not ...

May 20th, 2022 - This is a global, multicenter, randomized, double-blind, placebo-controlled trial to evaluate the efficacy of EPX-100 (clemizole hydrochloride) in children and young adults with Dravet Syndrome. The 20-week study begins with a 4-week Observational Phase which will establish seizure frequency and eligibility for treatment, followed by a 4-week Titration Phase to identify the maximum tolerated do...

May 20th, 2022 - Participants will be randomly allocated to one of four parallel experimental arms, within a 2X2 factorial design in which two interventions (tDCS and CBT-UP) will be delivered, and assessed according to two levels (e.g., intervention vs. no intervention). Each study participant will assigned to one factor level. Four intervention groups are defined active tDCS + CBT-UP sham tDCS + CBT-UP active...

May 20th, 2022 - Combination antiretroviral therapy (ART) has dramatically improved survival in individuals with human immunodeficiency virus type1 (HIV-1) infection. Despite recent development of more potent regimens with fewer toxicities and lower pill burden, there remains a subpopulation of subjects who fail to achieve and maintain viral suppression while on treatment. Factors known to contribute to virolog...

May 20th, 2022 - Objectives The purpose of this protocol is to improve understanding of the pathophysiology of movement disorders by performing small behavioral, electrophysiological and neuroimaging sub-studies. This will allow identifying dysfunction of the central nervous system that causes behavioral abnormalities seen in movement disorder patients. This will also help to determine potential diagnostic or t...

May 20th, 2022 - Objective: The development of a patient registry for Down syndrome (DS) was identified as a priority in the 2007 Down Syndrome Research Plan. Under the auspices of the Down Syndrome Consortium, founded in 2011 as a public-private partnership between the NIH and DS advocacy organizations, NICHD awarded a contract in 2012 to create a patient-focused online registry to facilitate research particip...

May 20th, 2022 - Painful vasoocclusive crisis (VOC) is the most frequent acute clinical manifestation of sickle cell disease (SCD), frequently necessitating emergency department visits and/or hospitalization. Approximately 10-30% of patients admitted to the hospital with a VOC will go on to develop acute chest syndrome (ACS), a complication of SCD resulting in significant morbidity and mortality. While ACS rela...