Ornithine Transcarbamylase Deficiency Disease
Conditions
Keywords
genetic diseases and dysmorphic syndromes, inborn errors of metabolism, ornithine transcarbamylase deficiency, rare disease, urea cycle disorder
Brief summary
OBJECTIVES: I. Determine the safety, feasibility, and potential efficacy of intravascular adenoviral vector mediated gene transfer in the liver in adults with partial ornithine transcarbamylase deficiency.
Detailed description
PROTOCOL OUTLINE: This is a dose escalation study. Patients undergo a femoral arterial placement of a hepatic intraarterial catheter. Patients then receive adenoviral vector mediated gene transfer intravascularly over 30 minutes. Cohorts of 3 patients each receive escalating doses of adenoviral vector until the maximum tolerated dose is determined. Patients are followed at 3, 5, 7, 8, 15, and 29 days, at 2 months, and then every 3 months thereafter. Completion date provided represents the completion date of the grant per OOPD records
Interventions
GENETICAdenoviral Vector-Mediated Gene Transfer
Sponsors
University of Pennsylvania
Study design
Primary purpose
TREATMENT
Eligibility
Sex/Gender
ALL
Age
18 Years to 69 Years
Healthy volunteers
No
Inclusion 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
Outcome results
None listed