Pharmacologic and Dietary Management for Urea Cycle Disorders
Sodium Benzoate
+ Sodium Phenylacetate
+ Sodium Phenylbutyrate
Brain Diseases+13
+ Brain Diseases, Metabolic
+ Central Nervous System Diseases
Treatment Study
Summary
Study start date: January 1, 1985
Actual date on which the first participant was enrolled.PROTOCOL OUTLINE: This protocol describes several clinical studies of pharmacologic and dietary management in patients with urea cycle disorders. Patients with carbamyl phosphate synthetase and ornithine transcarbamylase deficiency are treated with a low-protein diet, essential amino acids (for neonatal onset disease), caloric supplementation, oral sodium phenylbutyrate (now approved as a prescription drug 11/97), and citrulline or arginine free base. Patients with argininosuccinic acid synthetase deficiency are treated with a low-protein diet, caloric supplementation, oral sodium phenylbutyrate (now approved as a prescription drug 11/97), and arginine free base. Patients with argininosuccinic aciduria (AA) are treated with a low-protein diet, caloric supplementation, and arginine free base. (Discontinued 11/97) Any patient who develops hyperammonemia is treated with intravenous sodium benzoate, sodium phenylbutyrate, and arginine hydrochloride; benzoate and phenylbutyrate are not given to patients with AA. If ammonium stabilizes at normal or near normal levels, intravenous medications are gradually replaced by oral medications. If there is no significant decrease in ammonium within 8 hours, patients begin hemodialysis. Concurrent therapy with ondansetron, high caloric intake, and mannitol for elevated intracranial pressure is allowed. Dietary and intravenous nitrogen is prohibited. (Discontinued 11/97)
Protocol
This section provides details of the study plan, including how the study is designed and what the study is measuring.20 patients to be enrolled
Total number of participants that the clinical trial aims to recruit.Treatment Study
Eligibility
Researchers look for people who fit a certain description, called eligibility criteria: person's general health condition or prior treatments.Any sex
Biological sex of participants that are eligible to enroll.From 18 to 65 Years
Range of ages for which participants are eligible to join.Healthy volunteers not allowed
If individuals who are healthy and do not have the condition being studied can participate.Conditions
Pathology
Criteria
PROTOCOL ENTRY CRITERIA: Urea cycle deficiency, i.e.: Carbamyl phosphate synthetase deficiency (CPSD) Ornithine transcarbamylase deficiency (OTCD) Argininosuccinic acid synthetase deficiency (ASD) Argininosuccinic aciduria (AA)