Trial record 2 of 11 for:    "ornithine transcarbamylase deficiency"

Phase I Study of Adenoviral Vector Mediated Gene Transfer for Ornithine Transcarbamylase in Adults With Partial Ornithine Transcarbamylase Deficiency

This study has been terminated.
Information provided by:
FDA Office of Orphan Products Development Identifier:
First received: October 18, 1999
Last updated: March 24, 2015
Last verified: February 2000


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.

Condition Intervention Phase
Ornithine Transcarbamylase Deficiency Disease
Genetic: Adenoviral Vector-Mediated Gene Transfer
Phase 1

Study Type: Interventional
Study Design: Endpoint Classification: Safety Study
Primary Purpose: Treatment

Resource links provided by NLM:

Further study details as provided by FDA Office of Orphan Products Development:

Estimated Enrollment: 21
Study Start Date: July 1998
Estimated Study Completion Date: September 2000
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


Ages Eligible for Study:   18 Years to 69 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No


--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
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Please refer to this study by its identifier: NCT00004498

Sponsors and Collaborators
University of Pennsylvania
Study Chair: Steven E. Raper University of Pennsylvania
  More Information Identifier: NCT00004498     History of Changes
Other Study ID Numbers: 199/14290  UPSM-FDR001529 
Study First Received: October 18, 1999
Last Updated: March 24, 2015
Health Authority: United States: Federal Government

Keywords provided by FDA Office of Orphan Products Development:
genetic diseases and dysmorphic syndromes
inborn errors of metabolism
ornithine transcarbamylase deficiency
rare disease
urea cycle disorder

Additional relevant MeSH terms:
Ornithine Carbamoyltransferase Deficiency Disease
Deficiency Diseases
Amino Acid Metabolism, Inborn Errors
Brain Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Central Nervous System Diseases
Genetic Diseases, Inborn
Genetic Diseases, X-Linked
Metabolic Diseases
Metabolism, Inborn Errors
Nervous System Diseases
Nutrition Disorders
Urea Cycle Disorders, Inborn processed this record on May 23, 2016