Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate
| Status: | Recruiting |
|---|---|
| Conditions: | Other Indications |
| Therapuetic Areas: | Other |
| Healthy: | No |
| Age Range: | 3 - 70 |
| Updated: | 5/5/2014 |
| Start Date: | December 2010 |
| End Date: | June 2016 |
| Contact: | Marc Yudkoff, MD |
| Email: | yudkoff@email.chop.edu |
| Phone: | 215-590-7474 |
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.
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.
- 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.
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.
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 IRB Policies and
Procedures.
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