NCT01341379

Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate

• Status: Withdrawn
• Phase: Phase 2
• Study type: Interventional
• Enrollment: 0 (actual)
• Sponsor: Children's Hospital of Philadelphia · Academic / Other
• Sex: All
• Age: 3 Years – 70 Years
• Healthy volunteers: Accepted

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.

Detailed 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.

Conditions

• Urea Cycle Disorders, Inborn
• Inborn Errors of Metabolism
• Propionic Acidemia
• Methylmalonic Acidemia
• Carbamyl Phosphate Synthetase Deficiency

Interventions

Type	Name	Description
DRUG	N-carbamylglutamate	N-carbamylglutamate: 200 mg/kg/day for 3 days, divided into 4 daily oral doses

Timeline

• Start date: 2010-12-01
• Primary completion: 2012-08-01
• Completion: 2012-08-01
• First posted: 2011-04-25
• Last updated: 2014-05-29