Back to resultsStudy of Treatment and Metabolism in Patients With Urea Cycle Disorders
Primary Purpose
Amino Acid Metabolism, Inborn Errors
Status
Unknown status
Phase
Phase 1
Locations
United States
Study Type
Interventional
Intervention
Protein and calorie controlled diet
Ornithine transcarbamylase vector
Sponsored by
About this trial
This is an interventional treatment trial for Amino Acid Metabolism, Inborn Errors focused on measuring inborn errors of metabolism, rare disease, urea cycle disorder
Eligibility 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
Sites / Locations
- Baylor College of MedicineRecruiting
Outcomes
Primary Outcome Measures
Secondary Outcome Measures
Full Information
NCT ID
NCT00004307
First Posted
October 18, 1999
Last Updated
June 23, 2005
Sponsor
National Center for Research Resources (NCRR)
Collaborators
Baylor College of Medicine
1. Study Identification
Unique Protocol Identification Number
NCT00004307
Brief Title
Study of Treatment and Metabolism in Patients With Urea Cycle Disorders
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 Type
Interventional
2. Study Status
Record Verification Date
December 2003
Overall Recruitment Status
Unknown status
Study Start Date
December 1999 (undefined)
Primary Completion Date
undefined (undefined)
Study Completion Date
undefined (undefined)
3. Sponsor/Collaborators
Name of the Sponsor
National Center for Research Resources (NCRR)
Collaborators
Baylor College of Medicine
4. Oversight
5. 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.
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.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Amino Acid Metabolism, Inborn Errors
Keywords
inborn errors of metabolism, rare disease, urea cycle disorder
7. Study Design
Primary Purpose
Treatment
Study Phase
Phase 1
Enrollment
66 (false)
8. Arms, Groups, and Interventions
Intervention Type
Behavioral
Intervention Name(s)
Protein and calorie controlled diet
Intervention Type
Genetic
Intervention Name(s)
Ornithine transcarbamylase vector
10. Eligibility
Sex
All
Minimum Age & Unit of Time
6 Months
Maximum Age & Unit of Time
64 Years
Accepts Healthy Volunteers
Accepts Healthy Volunteers
Eligibility 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
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Brendan Lee
Organizational Affiliation
Baylor College of Medicine
Official's Role
Study Chair
Facility Information:
Facility Name
Baylor College of Medicine
City
Houston
State/Province
Texas
ZIP/Postal Code
77030
Country
United States
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Susan Carter
Phone
832-822-1630
Email
scarter@bcm.tmc.edu
12. IPD Sharing Statement
Learn more about this trial
Study of Treatment and Metabolism in Patients With Urea Cycle Disorders
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