Longitudinal Study of Urea Cycle Disorders

Status Recruiting

Clinical Trial Summary

Urea cycle disorders (UCD) are a group of rare inherited metabolism disorders. Infants and children with UCD commonly experience episodes of vomiting, lethargy, and coma. The purpose of this study is to perform a long-term analysis of a large group of individuals with various UCDs. The study will focus on the natural history, disease progression, treatment, and outcome of individuals with UCD.

Clinical Trial Description

Urea cycle disorders are a group of rare genetic diseases that affect how protein is broken down in the body. UCDs are caused by a deficiency in one of six enzymes or two mitochondrial membrane transporters responsible for removing ammonia, a waste product of protein metabolism, from the bloodstream. Normally, ammonia is converted into urea and then removed from the body in the form of urine. In UCDs, however, ammonia accumulates unchecked and is not removed from the body. It then reaches the brain through the blood, where it causes irreversible brain damage and/or death. All UCDs, except for one (ornithine transcarbamylase deficiency), are inherited as recessive traits. The purpose of this study is to perform a long-term analysis of a large group of individuals with various UCDs. Biochemical status, growth, and cognitive function will be assessed. Survival and cognitive outcome of the two most commonly used forms of treatment, alternate pathway therapy and transplantation, will be evaluated. In addition, this study will identify the biochemical changes that may predict future metabolic imbalances so that they may be corrected before clinical symptoms develop. This observational study is funded through 2025. All participants will attend an initial study visit, which will include a medical and diet history, physical and neurological examinations, psychological testing, and blood tests. Participants will then be followed with subsequent study visits, which will last 2-3 hours each. Individuals with neonatal onset UCD will be assessed every 3 months until age 2 and every 6 months thereafter. Individuals with late onset UCD will be evaluated every 6 months. Psychological testing will take place every 2 years. Psychological testing will take from 30 minutes (for younger children) up to 3 hours, depending on test battery. ;

Study Design

Related Conditions & MeSH terms

Amino Acid Metabolism, Inborn Errors
Brain Diseases
Brain Diseases, Metabolic, Inborn
Metabolic Diseases
Metabolism, Inborn Errors
Urea Cycle Disorders
Urea Cycle Disorders, Inborn

Clinical Trial Details

NCT number	NCT00237315
Study type	Observational
Source	Children's National Research Institute
Contact	Jennifer Seminara, MPH
Phone	202-306-6489
Email	jseminar@childrensnational.org
Status	Recruiting
Phase
Start date	February 2006
Completion date	July 2026

View Details

See also
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Completed	`NCT01257737` - To Evaluate the Safety of Long-term Use of HPN-100 in the Management of Urea Cycle Disorders (UCDs)	Phase 4
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Completed	`NCT00947544` - Study of the Safety and Tolerability of HPN-100 Compared to Sodium Phenylbutyrate in Children With Urea Cycle Disorders	Phase 2
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Completed	`NCT03797131` - Clinical Food Study to Evaluate the Effect of KB195 on Gut Nitrogen Metabolism in Patients With Urea Cycle Disorders	N/A
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