Ornithine Transcarbamylase Deficiency Disease
Conditions
Keywords
inborn errors of metabolism, rare disease, urea cycle disorder
Brief summary
OBJECTIVES: Evaluate the safety and feasibility of administering recombinant adenovirus containing the ornithine transcarbamylase gene to adults with partial ornithine transcarbamylase deficiency.
Detailed description
PROTOCOL OUTLINE: This a dose escalation study to estimate the maximum tolerated dose of recombinant adenovirus encoded with the ornithine transcarbamylase gene. Patients receive a single dose of virus infused into the liver under fluoroscopic guidance. Groups of 3 patients receive successively higher doses of virus; each cohort is observed for safety for 3 weeks before entry of the next group. Patients are followed weekly for 1 month, then every 3 months until stable.
Interventions
GENETICrecombinant adenovirus containing the ornithine transcarbamylase gene
Sponsors
Children's National Research Institute
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Study design
Primary purpose
TREATMENT
Eligibility
Sex/Gender
ALL
Age
18 Years to 65 Years
Healthy volunteers
No
Inclusion criteria
PROTOCOL ENTRY CRITERIA: --Disease Characteristics-- Confirmed partial ornithine transcarbamylase deficiency Asymptomatic, i.e., at least 1 month since hyperammonemia --Prior/Concurrent Therapy-- Not specified --Patient Characteristics-- No pregnant or nursing women Negative pregnancy test required of fertile women
Outcome results
None listed