N-Carbamylglutamate (Carbaglu) In The Treatment Of Hyperammonemia
Status unconfirmed · Phase 2/Phase 3
Conditions studied: Inborn Errors of Metabolism
In brief
This study is based on the hypothesis that a new drug N-carbamylglutamate (Carbaglu®) will enhance the ability of the liver to dispose of toxic ammonia which accumulates in several metabolic diseases including urea cycle disorders and organic acid disorders.
Key facts
- Study ID
- NCT00843921
- Run by
- Mendel Tuchman
- People needed
- 52
- Starts
- 2008-08-01
- Expected to finish
- 2020-06-30
- Last updated by the study team
- 2020-02-17
Who can join
Age: 0 and older, up to 70. Sex: any. Healthy volunteers: not accepted.
You may qualify if…
- Between 1 day - 70 years of age
- Viable neonates, neonates with uncertain viability are excluded Diagnosed with one of the following five inborn errors of metabolism: NAGS, CPSI,PA, MMA, or OTC deficiency.
- Diagnostic requirements:
- NAGS deficiency - Identification of pathogenic mutation and/or decreased (<20% of control) NAGS enzyme activity in liver
- CPSI deficiency - decreased (<20% of control) CPSI enzyme activity in liver deficiency of liver CPSI in the presence of normal or substantial activity of OTC (Tuchman et al 1980) and/or molecular confirmation of deleterious mutations (Summary et al 2003).
- High level of clinical suspicion of NAGS or CPSI deficiency - Failure to meet diagnostic criteria for either NAGS or CPSI deficiency as listed above, but:
- Recurrent hyperammonemic episodes (NH3 >70umol/l) with elevated plasma glutamine (>/= 800umol/l)
- Urinary orotate levels within normal limits (</= 5 umol/mmol urine creatinine)
- Absence of argininosuccinic acid in blood or urine
- Low or normal level of citrulline (</=92umol/l) and arginine (</= 179 umol/l) and ornithine (</=159umol/l) within normal limits in blood
- OTC deficiency- Identification of pathogenic mutation and/or-pedigree analysis consistent with familial hyperammonemia segregating in an x-linked semi-dominant pattern and/or -<20% of control OTC activity in liver and/or -elevated urinary orotate (>20%umol/mmol creatinine) after allopurinol challenge test
- PA and MMA- diagnostic urine organic acid analysis and confirmation of absence of responsiveness to biotin and vitamin B12 respectively.
You may not qualify if…
- Subjects acutely ill on day of the study
- Pregnant females- documentation of a negative pregnancy test within a week prior to testing is required for females 12 years and older, unless having a menstrual period during that week or other circumstances which preclude pregnancy (e.g. hysterectomy, menopause)
- Subjects with hyperammonemia caused by other urea cycle disorders, lysinuric protein intolerance, mitochondrial disorders, congenital lactic academia, fatty acid oxidation defects and primary liver disease
- Subjects requiring a peripherally inserted central catheter (PICC) for blood draws may need to be moderately sedated and are excluded
- Subjects with hemoglobin < 9 g/dl
Where it is running
- Childrens Research Institute — Washington D.C., District of Columbia, United States
Full record on ClinicalTrials.gov
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