Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate

• Register: ClinicalTrials.gov
• Last refreshed on: 19 February 2015
• Main ID: NCT01341379
• Date of registration: 22/04/2011
• Prospective Registration: No
• Primary sponsor: Children's Hospital of Philadelphia
• Public title: Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate
• Scientific title: Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate
• Date of first enrolment: December 2010
• Target sample size: 0
• Recruitment status: Withdrawn
• URL: http://clinicaltrials.gov/show/NCT01341379
• Study type: Interventional
• Study design: Endpoint Classification: Efficacy Study, Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Treatment
• Phase: Phase 2

Countries of recruitment

United States

Contacts

• Name: Marc Yudkoff, MD
• Affiliation: Children's Hospital of Philadelphia

Key inclusion & exclusion criteria

Inclusion Criteria:

- Age range: males or females, ages 3 years - 70 years

- Condition(s): N-acetylglutamate synthetase deficiency, propionic acidemia,
methylmalonic acidemia, carbamylphosphate synthase deficiency, ornithine
transcarbamylase deficiency and the syndrome of hyperammonemia, hypoglycemia and
hyperinsulinemia.

- In addition, healthy volunteers will be studied (ages 18 years - 50 years).

Exclusion Criteria:

- Acutely ill on day of study (fever, evidence of hyperammonemia - ataxia, worsening
obtundation, focal neurologic signs, seizures, increased intracranial pressure,
vomiting, signs of acute respiratory or enteric illness, headache, confusion,
disorientation, acute personality change).

- Girls 11 years of age must have a negative urine/serum pregnancy test within 1 week
prior to testing unless having a menstrual period during week of test

- Lactating females

- Hyperammonemia probably refractory to N-carbamylglutamate: other urea cycle disorders
(UCD), lysinuric protein intolerance, mitochondrial disorders, congenital lactic
acidemia, fatty acid oxidation defects or primary liver disease.

- Amount of blood necessary for study exceeds safe limits.

- Any investigational drug use within 30 days prior to enrollment.

- Parents/guardians or subjects who, in the opinion of the PI, may be non-compliant
with study schedules or procedures.

- Subjects who do not meet all the enrollment criteria may not be enrolled. Any
violations of these criteria will be reported in accordance with Institutional Review
Board (IRB) Policies and Procedures.



Age minimum: 3 Years
Age maximum: 70 Years
Gender: Both

Health Condition(s) or Problem(s) studied

Methylmalonic Acidemia

Urea Cycle Disorders, Inborn

Propionic Acidemia

Carbamyl Phosphate Synthetase Deficiency

Inborn Errors of Metabolism

Intervention(s)

Drug: N-carbamylglutamate

Primary Outcome(s)

Rate of ureagenesis [Time Frame: 3 days]

Secondary ID(s)

R01HD058567

10-007806

Source(s) of Monetary Support

Please refer to primary and secondary sponsors

Secondary Sponsor(s)

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)