Phase I Study of Adenoviral Vector Mediated Gene Transfer for Ornithine Transcarbamylase in Adults With Partial Ornithine Transcarbamylase Deficiency
Ornithine Transcarbamylase Deficiency Disease
About this trial
This is an interventional treatment trial for Ornithine Transcarbamylase Deficiency Disease focused on measuring genetic diseases and dysmorphic syndromes, inborn errors of metabolism, ornithine transcarbamylase deficiency, rare disease, urea cycle disorder
Eligibility Criteria
PROTOCOL ENTRY CRITERIA: --Disease Characteristics-- Diagnosis of partial ornithine transcarbamylase deficiency Female heterozygote with abnormal allopurinol challenge or underlying defect in either N15 urea or N15 glutamine OR Male with childhood/adulthood onset OR Family history of 2 affected children Stable for at least 1 month prior to study Plasma ammonium levels less than 50 micromoles --Prior/Concurrent Therapy-- Concurrent alternate pathway therapy to control hyperammonemia allowed --Patient Characteristics-- Hepatic: No history of liver disease Other: Not pregnant or nursing Negative pregnancy test Fertile patients must use effective contraception No high level of neutralizing antibodies to the adenovirus