Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate

Inborn Errors of Metabolism Clinical Trial

Official title: Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate

Status Withdrawn

Clinical Trial Summary

Hyperammonemia, which can cause brain damage, occurs in many different kinds of inborn errors of metabolism. The investigators propose to determine if short-term (3 day) treatment with N-carbamylglutamate can diminish hyperammonemia by enhancing ureagenesis in these patients. The investigators propose here a short-term (3 day) trial. If it succeeds, the investigators would consider more extensive long-term studies of the drug.

Clinical Trial Description

• To determine whether brief (3 day) treatment with N-carbamylglutamate can improve ureagenesis in adult healthy controls and patients with the following inborn errors of metabolism: N-acetylglutamate synthetase deficiency, propionic acidemia, methylmalonic acidemia, carbamylphosphate synthase deficiency, ornithine transcarbamylase deficiency and the syndrome of hyperammonemia, hypoglycemia and hyperinsulinemia (HHH Syndrome).

• To determine if such treatment improves other indicators of abnormal nitrogen metabolism such as elevated blood levels of glutamine, glycine and alanine. ;

Study Design

Endpoint Classification: Efficacy Study, Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Treatment

Related Conditions & MeSH terms

• Acidosis
• Amino Acid Metabolism, Inborn Errors
• Carbamoyl-Phosphate Synthase I Deficiency Disease
• Carbamyl Phosphate Synthetase Deficiency
• Inborn Errors of Metabolism
• Metabolism, Inborn Errors
• Methylmalonic Acidemia
• Propionic Acidemia
• Urea Cycle Disorders, Inborn

• NCT number: NCT01341379
• Study type: Interventional
• Source: Children's Hospital of Philadelphia
• Status: Withdrawn
• Phase: Phase 2
• Start date: December 2010
• Completion date: August 2012