Arginine and Buphenyl in Patients With Argininosuccinic Aciduria (ASA), a Urea Cycle Disorder

• Status: Completed
• Trial end date: 2012-11-01
• Target enrollment: 0
• Participant gender: All

Summary

Urea cycle disorders are inherited illnesses in which the body does not produce enough of the chemicals that remove ammonia, a byproduct of protein metabolism, from the blood stream. Elevated ammonia levels can lead to brain damage and death. Argininosuccinic aciduria (ASA) is a type of urea cycle disorder that is characterized specifically by high levels of argininosuccinic acid, a chemical involved in the urea cycle. People with ASA are at risk for serious liver damage, which may be due to the elevated levels of argininosuccinic acid. Sodium phenylbutyrate (Buphenyl-TM) is a drug that has been used to treat other types of urea cycle disorders. This study will evaluate whether Buphenyl-TM in conjunction with decreased arginine dose (in addition to a normal regimen of protein) will improve short-term liver function and decrease plasma citrulline and ASA levels in people with ASA.

• Phase: Phase 2
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: Brendan Lee
• Collaborators: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD); Office of Rare Diseases (ORD); Rare Diseases Clinical Research Network
• Treatments: 4-phenylbutyric acid

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