Arginine and Buphenyl in Patients With Argininosuccinic Aciduria (ASA), a Urea Cycle Disorder
Argininosuccinic Aciduria, Amino Acid Metabolism, Inborn Errors, Urea Cycle Disorders
About this trial
This is an interventional treatment trial for Argininosuccinic Aciduria focused on measuring Argininosuccinic Acid Lyase Deficiency, ASA
Eligibility Criteria
Inclusion Criteria: Has confirmed diagnosis of ASA by amino acid or enzyme assay Has a history of adequate compliance to the diet and treatment Able to take oral or G-tube medication Able to perform 24 hour urine collection Agrees to travel to Baylor College of Medicine If female, of child bearing potential, and sexually active, agrees to use an acceptable method of birth control Greater than 5 years of age Exclusion Criteria: Has a history of congestive heart failure, severe renal insufficiency, or any condition that causes sodium retention or edema Currently taking Probenecid, Haloperidol, Valproate or oral corticosteroids Pregnant or lactating Currently being treated for an acute illness Has co-morbid associations causing difficulties in the detection of hyperammonemic episodes, liver damage, or difficulties in the diet compliance Has known hypersensitivity to sodium phenylbutyrate Has taken any experimental medication within the last 30 days Has renal insufficiency with creatinine greater than 1.5 mg/dl at screening
Sites / Locations
- Baylor College of Medicine
Arms of the Study
Arm 1
Arm 2
Experimental
Experimental
HDA
LDA
High Dose Arm Wash-out then 7 days of: Arg 500 mg/kg/d or 10 g/m2 BSA Placebo instead of NaPBA
Low Dose Arm Wash-out followed by 7 days of: Arg 100 mg/kg/d or 2 g/m2 BSA NaPBA 500 mg/kg/d or 10 g/m2 BSA