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Found 138 clinical trials
Central Nervous System Disorders Following Hematopoietic Stem Cell Transplantation

All patients undergoing allogeneic or autologous HSCT at the participating centres will be observed. Once a diagnosis of CNS disorder is made, additional data will be reported for these patients. We will identify clinical and diagnostic characteristics such as cerebrospinal fluid (CSF) and neuroimaging patterns, risk factors, response to treatment …

colony stimulating factor
cell transplantation
  • 20 Jun, 2022
  • 17 locations
Liver Disease in Urea Cycle Disorders

This is a multi-center, cross-sectional study to assess risk for liver fibrosis and hepatic injury in individuals with urea cycle disorders (UCDs) using serum biomarkers, Fibroscan, and MRE

  • 15 Mar, 2022
  • 2 locations
Hepatic Urea Nitrogen Handling in Patients With NASH

The aim of the project is to investigate the metabolic regulation of the hepatic urea nitrogen handling and various cognitive functions measured by psychometric and neurophysiological tests

bariatric surgery
liver disease
other liver diseases
fatty liver
  • 24 Jan, 2021
  • 1 location
Neuroimaging and Neuropsychological Outcomes in Urea Cycle Disorders (UCD)

In proximal urea cycle disorders (UCD), particularly ornithine transcarbamylase deficiency (OTCD), hyperammonemia (HA) causes increased brain glutamine (Gln) which perturbation is thought to be

brain pathology
argininosuccinic aciduria
Accepts healthy volunteers
  • 16 Feb, 2022
  • 1 location
Fractional Excretion of Urea for the Differential Diagnosis of Acute Kidney Injury in Cirrhosis

The aim of this study is to evaluate: The diagnostic performance of Fractional Excretion of Urea (FEUrea) for the differential diagnosis of acute kidney injury in patients with

  • 04 Oct, 2021
  • 1 location
Systemic Biomarkers of Brain Injury From Hyperammonemia

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 …

  • 08 Nov, 2021
  • 1 location
Adeno-Associated Virus (AAV) Antibody Study in Subjects OTC Deficiency, GSDIa, and Wilson Disease

The objective of this observational study is to evaluate the seroprevalence of anti-AAV antibodies in subjects with Ornithine Transcarbamylase (OTC) deficiency, Glycogen Storage Disease Type Ia (GSDIa), and Wilson Disease

  • 12 Jul, 2022
  • 3 locations
Characterization of Intestinal Microbiota in Children With Inborn Errors of Metabolism (IEM) (IEM)

Study around children with inborn errors of metabolism (IEM) and their healthy siblings. Collection of stool and urine to assess contribution of microbiota to disease severity.

Accepts healthy volunteers
  • 04 May, 2022
  • 1 location
Orphan Europe Carbaglu® Surveillance Protocol

Study of Urea Cycle Disorders (RDCRN Protocol #5101). This study will collect additional data on adverse events (interim events), adverse reactions, pregnancy, and fetal outcomes.

  • 26 Feb, 2022
  • 3 locations
A Study of Acute Kidney Injury in Children at Sohag University Hospital

such as blood urea nitrogen (BUN) and creatinine, and dysregulation of extracellular volume and electrolyte homeostasis . Acute kidney injury (AKI) is a very common condition, especially among

glomerular filtration rate
  • 06 Apr, 2022