Study of Treatment and Metabolism in Patients With Urea Cycle Disorders

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ClinicalTrials.gov Identifier: NCT00004307

Recruitment Status : Unknown

Verified December 2003 by National Center for Research Resources (NCRR).
Recruitment status was: Recruiting

First Posted : October 19, 1999

Last Update Posted : June 24, 2005

Sponsor:

Collaborator:

Baylor College of Medicine

Information provided by:

National Center for Research Resources (NCRR)

Study Description

Brief Summary:

RATIONALE: The urea cycle is the process in which nitrogen is removed from the blood and converted into urea, a waste product found in urine . Urea cycle disorders are inherited disorders caused by the lack of an enzyme that removes ammonia from the bloodstream. Gene therapy is treatment given to change a gene so that it functions normally. Studying the treatment and metabolism of patients with urea cycle disorders may be helpful in developing new treatments for these disorders.

PURPOSE: Two-part clinical trial to study the treatment and metabolism of patients who have urea cycle disorders.

Condition or disease	Intervention/treatment	Phase
Amino Acid Metabolism, Inborn Errors	Behavioral: Protein and calorie controlled diet Genetic: Ornithine transcarbamylase vector	Phase 1

Detailed Description:

PROTOCOL OUTLINE: This protocol involves 2 clinical studies. Part A is a metabolic study of glutamine conversion to urea at different levels of protein intake, while on and off medications. Part B is a dose escalation study of a first-generation adenoviral vector with an E1 deletion and an E3 deletion substitution (d1309) expressing ornithine transcarbamylase (OTC).

In Part A, diet is controlled for protein and calories. Intravenous glutamine and urea are administered. Controls are given intravenous arginine, phenylacetate, and benzoate.

In Part B, groups of 3 patients are given a single low, intermediate, or high dose of intravenous OTC vector. Allopurinol is administered every 12 hours for 12 days. As of 12/10/1999, Part B of the study is closed.

Study Design


Study Type :	Interventional (Clinical Trial)
Enrollment :	66 participants
Primary Purpose:	Treatment
Official Title:	Therapeutic and Metabolic Studies of Urea Cycle Disorders: Part A: Nitrogen Flux and Ureagenesis; Part B (Closed): Phase I Adenovirus Vector-Mediated Gene Therapy for Ornithine Transcarbamylase Deficiency
Study Start Date :	December 1999

Resource links provided by the National Library of Medicine

Genetics Home Reference related topics: N-acetylglutamate synthase deficiency Argininosuccinic aciduria Ornithine transcarbamylase deficiency Ornithine translocase deficiency

Drug Information available for: Ornithine

Genetic and Rare Diseases Information Center resources: Urea Cycle Disorders Ornithine Transcarbamylase Deficiency Inborn Amino Acid Metabolism Disorder

U.S. FDA Resources

Arms and Interventions

Outcome Measures

Eligibility Criteria

Information from the National Library of Medicine

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Ages Eligible for Study:	6 Months to 64 Years (Child, Adult)
Sexes Eligible for Study:	All
Accepts Healthy Volunteers:	Yes

Criteria

PROTOCOL ENTRY CRITERIA:

Part A. Patients at least 6 months old with ornithine transcarbamylase deficiency (OTC), i.e.: Hemizygous OTC or homozygous autosomal recessive disorder with evidence of complete enzyme deficiency Hemizygous OTC male with late presentation and presumed evidence for residual enzyme activity OTC heterozygotes (molecular diagnosis) with severely symptomatic to asymptomatic disease Obligate heterozygotes for autosomal recessive disorder (parent or genotyped sibling) Normal adult volunteers and genotyped siblings entered as controls Part B. Metabolically stable heterozygous OTC females aged 18 to under 65 Orotic acid level at least 5 times normal on allopurinol Symptoms ranging from severe to asymptomatic acceptable No prior hospitalization for hyperammonemia Exclusion criteria (Parts A and B): Acute or chronic intercurrent illness Pregnancy Acute hyperammonemia

Contacts and Locations

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00004307

Locations


United States, Texas
Baylor College of Medicine	Recruiting
Houston, Texas, United States, 77030
Contact: Susan Carter 832-822-1630 scarter@bcm.tmc.edu

Sponsors and Collaborators

National Center for Research Resources (NCRR)

Baylor College of Medicine

Investigators


Study Chair:	Brendan Lee	Baylor College of Medicine

More Information


ClinicalTrials.gov Identifier:	NCT00004307 History of Changes
Other Study ID Numbers:	NCRR-M01RR00188-0606 BCM-H4379
First Posted:	October 19, 1999 Key Record Dates
Last Update Posted:	June 24, 2005
Last Verified:	December 2003

Keywords provided by National Center for Research Resources (NCRR):


inborn errors of metabolism rare disease urea cycle disorder

Additional relevant MeSH terms:


Urea Cycle Disorders, Inborn Metabolism, Inborn Errors Ornithine Carbamoyltransferase Deficiency Disease Amino Acid Metabolism, Inborn Errors Brain Diseases, Metabolic, Inborn Brain Diseases, Metabolic	Brain Diseases Central Nervous System Diseases Nervous System Diseases Genetic Diseases, Inborn Metabolic Diseases Genetic Diseases, X-Linked

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