159 matching studies

Sponsor Condition of Interest
Inspiring New Science In Guiding Healthcare in Turner Syndrome Registry
University of Colorado, Denver Turner Syndrome
INSIGHTS is a registry research study that collects key information on medical history for girls and women with Turner syndrome and the clinical care they receive. This includes genetic tests, imaging, medications, and more for hundreds of patients seen at a number of clinics across the US. In addi1 expand

INSIGHTS is a registry research study that collects key information on medical history for girls and women with Turner syndrome and the clinical care they receive. This includes genetic tests, imaging, medications, and more for hundreds of patients seen at a number of clinics across the US. In addition to learning a lot about the current state of health for individuals with TS, INSIGHTS serves as an infrastructure to conduct future studies are meaningful to patients and their families.

Type: Observational [Patient Registry]

Start Date: May 2020

open study

North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
Columbia University Mitochondrial Disorders Mitochondrial Genetic Disorders Mitochondrial Diseases Disorder of Mitochondrial Respiratory Chain Complexes Deletion and Duplication of Mitochondrial DNA
The North American Mitochondrial Disease Consortium (NAMDC) maintains a patient contact registry and tissue biorepository for patients with mitochondrial disorders. expand

The North American Mitochondrial Disease Consortium (NAMDC) maintains a patient contact registry and tissue biorepository for patients with mitochondrial disorders.

Type: Observational

Start Date: Dec 2010

open study

Eliminating Monitor Overuse Trial (EMO Trial)
Children's Hospital of Philadelphia Bronchiolitis Acute Viral
The purpose of this study is to identify the optimal deimplementation strategies for an overused practice: continuous pulse oximetry monitoring of children hospitalized with bronchiolitis who are not receiving supplemental oxygen. expand

The purpose of this study is to identify the optimal deimplementation strategies for an overused practice: continuous pulse oximetry monitoring of children hospitalized with bronchiolitis who are not receiving supplemental oxygen.

Type: Interventional

Start Date: Dec 2021

open study

Systemic Biomarkers of Brain Injury From Hyperammonemia
Children's National Research Institute Urea Cycle Disorder Organic Acidemia Maple Syrup Urine Disease Glutaric Acidemia I Fatty Acid Oxidation Disorder
Ammonia is a waste product of protein and amino acid catabolism and is also a potent neurotoxin. High blood ammonia levels on the brain can manifest as cytotoxic brain edema and vascular compromise leading to intellectual and developmental disabilities. The following aims are proposed: Aim 1 of th1 expand

Ammonia is a waste product of protein and amino acid catabolism and is also a potent neurotoxin. High blood ammonia levels on the brain can manifest as cytotoxic brain edema and vascular compromise leading to intellectual and developmental disabilities. The following aims are proposed: Aim 1 of this study will be to determine the chronology of biomarkers of brain injury in response to a hyperammonemic (HA) brain insult in patients with an inherited hyperammonemic disorder. Aim 2 will be to determine if S100B, NSE, and UCHL1 are altered in patients with two other inborn errors of metabolism, Maple Syrup Urine Disease (MSUD) and Glutaric Acidemia (GA1).

Type: Observational

Start Date: Jul 2020

open study

Development of a City-Wide Cohort of HIV-Infected Persons in Care in the District of Columbia: the1
George Washington University HIV AIDS
The goal of the DC Cohort is to establish a clinic-based city-wide longitudinal cohort that will describe clinical outcomes, and improve the quality of care for outpatients with Human Immunodeficiency Virus/Acquired Immune Deficiency Syndrome (HIV/AIDS) in Washington, DC. expand

The goal of the DC Cohort is to establish a clinic-based city-wide longitudinal cohort that will describe clinical outcomes, and improve the quality of care for outpatients with Human Immunodeficiency Virus/Acquired Immune Deficiency Syndrome (HIV/AIDS) in Washington, DC.

Type: Observational

Start Date: Jan 2011

open study