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The Congenital Dyserythropoietic Anemia Registry (CDAR)

The investigators propose the creation and maintenance of a comprehensive registry for patients with the diagnosis of Congenital Dyserythropoietic Anemia (CDA) in North America. The goal of this registry will be to collect long-term confidential data on patients with CDA in the US, Canada, and Mexico and create a bio-repository …

years of age All Phase N/A

Characterization of the Fungal Origins in the Autoimmune Polyendocrinopathy of Type 1 Compared With the Autoimmune Polyendocrinopathies of Type 2

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is an autosomal recessive disease caused by mutations in the autoimmune regulator (AIRE) gene, characterized by the clinical triad of chronic mucocutaneous candidiasis (CMC), hypoparathyroidism, and adrenal insufficiency. CMC can be complicated by systemic candidiasis or oral squamous cell carcinomas (SCCs) and may lead …

- 85 years of age All Phase N/A
Y Yu Shi, MD

MRE for Assessment of Histopathological Growth Patterns in Colorectal Liver Metastases

The goal of this study is to investigate the value of MR elastography-based SII as a means of detecting HGP noninvasively in patients with pathology-proven CRLM. MRE will provide a direct measure of tumor-liver adhesion to investigate the relationship between imaging findings and pathophysiological changes in the Liver.

18 - 80 years of age All Phase N/A

Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies

Children and adults with pyruvate dehydrogenase complex deficiency (PDCD) are participating in a research study seeking to better understand the genetic causes, symptoms, usefulness of current treatments, and outcomes for these disorders. The research project involves completing a questionnaire about the individual or family's medical history and experiences with PDCD, …

years of age All Phase N/A
J Joo Myung Lee, MD, MPH, PhD

Physiologic Assessment of Microvascular Function in Heart Transplant Patients

The aim of the study is to evaluate the impact of early microvascular disease assessed by coronary physiologic indices such as fractional flow reserve (FFR), coronary flow reserve (CFR), index of microvascular resistance (IMR) on future occurrence of cardiac allograft vasculopathy (CAV) in heart transplant recipients.

18 - 85 years of age All Phase N/A
P Pooja Narayan, MS

Heart Transplantation - Renewal

Heart transplantation (HTx) is a well-established life-saving procedure but is associated with severe complications. Regular monitoring of heart transplant recipients is thus important for the early detection of these complications. Current standard clinical tests, however, rely on frequent invasive procedures including endomyocardial biopsies (EMB) and catheter angiography (Cath). In addition, …

years of age All Phase N/A
L Lisa Goudman, PhD

Differential Target Multiplexed Spinal Cord Stimulation

Evaluation of the effectiveness of differential target multiplexed spinal cord stimulation for treatment of chronic back and leg pain. Additionally, a subgroup analysis will be performed to evaluate potential differences between paddle/surgical leads versus percutaneous leads.

18 years of age All Phase N/A
F For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)

Assessing and Improving Quantitative Magnetic Resonance Imaging Metrics in Human Subjects

Background Magnetic resonance imaging (MRI), which uses strong magnets to get images of structures inside the body, is a valuable tool in modern medicine. But researchers are always looking for ways to improve this technology. To better understand how to use MRI to diagnose problems, researchers need to collect more …

18 - 100 years of age All Phase N/A
Y YIZHUO GAO, MASTER

A Predictive Tool for Predicting Adverse Outcomes in Acute Pulmonary Embolism Patients Using CTPA.

This study collected clinical, laboratory, and CT parameters of acute patients with acute pulmonary embolism from admission to predict adverse outcomes within 30 days after admission into hospital.

18 years of age All Phase N/A

Metabolic Characteristics of Brain Tumors Using Hyperpolarized Carbon-13 Magnetic Resonance Spectroscopic Imaging (MRSI)

This is a non-randomized, purely observational, feasibility study to detect metabolic changes in patients with brain malignancy using a novel hyperpolarized [1-13C]pyruvate MRSI.

18 - 70 years of age All Phase N/A

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