Clinical Trial: Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate

Study Status: Withdrawn
Recruit Status: Withdrawn
Study Type: Interventional

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

Brief 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 Summary:

  • 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.

Sponsor: Children's Hospital of Philadelphia

Current Primary Outcome: Rate of ureagenesis [ Time Frame: 3 days ]

Goal is to determine whether a 3 day trial of N-carbamylglutamate increases ureagenesis in patients with urea cycle defects and other inborn errors of metabolism.


Original Primary Outcome: Same as current

Current Secondary Outcome:

Original Secondary Outcome:

Information By: Children's Hospital of Philadelphia

Dates:
Date Received: April 22, 2011
Date Started: December 2010
Date Completion:
Last Updated: May 28, 2014
Last Verified: May 2014