Phase I Pilot Study of Liver-Directed Gene Therapy for Partial Ornithine Transcarbamylase Deficiency

This study has been terminated.
Children's Research Institute
Information provided by:
Office of Rare Diseases (ORD) Identifier:
First received: October 18, 1999
Last updated: June 23, 2005
Last verified: January 2000


Evaluate the safety and feasibility of administering recombinant adenovirus containing the ornithine transcarbamylase gene to adults with partial ornithine transcarbamylase deficiency.

Condition Intervention Phase
Ornithine Transcarbamylase Deficiency Disease
Genetic: recombinant adenovirus containing the ornithine transcarbamylase gene
Phase 1

Study Type: Interventional
Study Design: Primary Purpose: Treatment

Resource links provided by NLM:

Further study details as provided by Office of Rare Diseases (ORD):

Study Start Date: October 1995
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.


Ages Eligible for Study:   18 Years to 65 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No


--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

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Please refer to this study by its identifier: NCT00004386

Sponsors and Collaborators
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Children's Research Institute
Study Chair: Mark Batshaw Children's Research Institute
  More Information Identifier: NCT00004386     History of Changes
Other Study ID Numbers: 199/12054  CSH-3660 
Study First Received: October 18, 1999
Last Updated: June 23, 2005
Health Authority: United States: Federal Government

Keywords provided by Office of Rare Diseases (ORD):
inborn errors of metabolism
rare disease
urea cycle disorder

Additional relevant MeSH terms:
Deficiency Diseases
Ornithine Carbamoyltransferase Deficiency Disease
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 24, 2016