Arginine and Buphenyl in Patients With Argininosuccinic Aciduria (ASA), a Urea Cycle Disorder
Status:
Completed
Trial end date:
2012-11-01
Target enrollment:
Participant gender:
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
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