Study of Treatment and Metabolism in Patients With Urea Cycle Disorders

The recruitment status of this study is unknown. The completion date has passed and the status has not been verified in more than two years.

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

Sponsor:

Collaborator:

Baylor College of Medicine

Information provided by:

National Center for Research Resources (NCRR)

ClinicalTrials.gov Identifier:

NCT00004307

First received: October 18, 1999

Last updated: June 23, 2005

Last verified: December 2003

History of Changes

Purpose

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


Study Type:	Interventional
Study Design:	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

Resource links provided by NLM:

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

Further study details as provided by National Center for Research Resources (NCRR):


Estimated Enrollment:	66
Study Start Date:	December 1999

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.

Eligibility


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

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: 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
Study First Received:	October 18, 1999
Last Updated:	June 23, 2005

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

ClinicalTrials.gov processed this record on June 23, 2017

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