Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate
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.
Urea Cycle Disorders, Inborn
Inborn Errors of Metabolism
Carbamyl Phosphate Synthetase Deficiency
|Study Design:||Endpoint Classification: Efficacy Study
Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Treatment
|Official Title:||Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate|
- Rate of ureagenesis [ Time Frame: 3 days ] [ Designated as safety issue: No ]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.
|Study Start Date:||December 2010|
|Estimated Study Completion Date:||June 2016|
|Estimated Primary Completion Date:||June 2016 (Final data collection date for primary outcome measure)|
|Experimental: N-carbamylglutamate (Carbaglu)||
N-carbamylglutamate: 200 mg/kg/day for 3 days, divided into 4 daily oral doses
Other Name: Carbaglu
- 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.
|Contact: Marc Yudkoff, MDfirstname.lastname@example.org|
|Contact: Irma Payan, CRNPemail@example.com|
|United States, Pennsylvania|
|Children's Hospital of Philadelphia||Recruiting|
|Philadelphia, Pennsylvania, United States, 19104|
|Contact: Marc Yudkoff, MD 215-590-7474 firstname.lastname@example.org|
|Contact: Irma Payan, CRNP 215-590-6236 email@example.com|
|Principal Investigator: Marc Yudkoff, MD|
|Principal Investigator:||Marc Yudkoff, MD||Children's Hospital of Philadelphia|