|
|
Home
Search
Study Topics
Glossary
|
 |
|
|
|
|
|
|
|
|
|
|
|
|
||||||||||||||||||||||||||||||||||||
| Sponsors and Collaborators: |
National Center for Research Resources (NCRR) Baylor College of Medicine |
|---|---|
| Information provided by: | National Center for Research Resources (NCRR) |
| ClinicalTrials.gov Identifier: | NCT00004307 |
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 Gene Transfer: Ornithine transcarbamylase vector |
Phase I |
| Study Type: | Interventional |
| Study Design: | 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 |
| Estimated Enrollment: | 66 |
| Study Start Date: | December 1999 |
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 |
| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | Yes |
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| United States, Texas | |
| Baylor College of Medicine | Recruiting |
| Houston, Texas, United States, 77030 | |
| Contact: Susan Carter 832-822-1630 scarter@bcm.tmc.edu | |
| Study Chair: | Brendan Lee | Baylor College of Medicine |
More Information
| Study ID Numbers: | NCRR-M01RR00188-0606, BCM-H4379 |
| Study First Received: | October 18, 1999 |
| Last Updated: | June 23, 2005 |
| ClinicalTrials.gov Identifier: | NCT00004307 History of Changes |
| Health Authority: | United States: Federal Government |
|
inborn errors of metabolism rare disease urea cycle disorder |
|
Metabolic Diseases Amino Acid Metabolism, Inborn Errors Adenoviridae Infections Rare Diseases Central Nervous System Diseases Brain Diseases Ornithine Carbamoyltransferase Deficiency Disease Metabolism, Inborn Errors |
Genetic Diseases, Inborn Inborn Amino Acid Metabolism Disorder Urea Cycle Disorders Brain Diseases, Metabolic, Inborn Metabolic Disorder Ornithine Transcarbamylase Deficiency Deficiency Diseases Brain Diseases, Metabolic |
|
Metabolism, Inborn Errors Metabolic Diseases Genetic Diseases, Inborn Amino Acid Metabolism, Inborn Errors Nervous System Diseases |
Central Nervous System Diseases Brain Diseases, Metabolic, Inborn Brain Diseases Brain Diseases, Metabolic Ornithine Carbamoyltransferase Deficiency Disease |
