Text Size

Investigation of Brain Nitrogen in Partial Ornithine Transcarbamylase Deficiency (OTCD) Using 1 H MRS, DTI, and fMRI

This study is currently recruiting participants.
Verified March 2012 by Children's Research Institute
Sponsor:
Information provided by (Responsible Party):
Children's Research Institute
ClinicalTrials.gov Identifier:
NCT01569568
First received: March 30, 2012
Last updated: April 2, 2012
Last verified: March 2012
History of Changes
  Purpose

The purpose of this study is to use various types of MRI and cognitive testing to evaluate changes in the brain and cognitive function that occur in subjects with ornithine transcarbamylase deficiency (OTCD) relative to healthy individuals


Condition Intervention
Ornithine Transcarbamylase Deficiency
 Behavioral: MRI scanning
Behavioral: Cognitive testing

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Investigation of Brain Nitrogen in Partial Ornithine Transcarbamylase Deficiency (OTCD) Using 1 H MRS, DTI, and fMRI

Resource links provided by NLM:

Drug Information available for: Ornithine
U.S. FDA Resources

Further study details as provided by Children's Research Institute:

Primary Outcome Measures:
  • Biomarker characterization [ Time Frame: Baseline ] [ Designated as safety issue: No ]
    To characterize metabolic, structural and cognitive changes in OTCD by 1H MRS, DTI, volumetric measures, and fMRI and to validate biomarkers for the effect of HA and its treatment on the brain.


Secondary Outcome Measures:
  • Correlation of imaging markers with cognitive function [ Time Frame: Baseline ] [ Designated as safety issue: No ]
    To correlate the findings from neuroimaging with cognitive functioning and clinical parameters.


Estimated Enrollment: 68
Study Start Date: September 2010
Estimated Study Completion Date: August 2016
Estimated Primary Completion Date: August 2015 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
Subjects with OTCD
males and females ages 7-60 years with OTCD
 Behavioral: Cognitive testing
Neuropsychological testing
Healthy controls
males and females ages 7-60 years who are healthy controls
 Behavioral: MRI scanning
1H MRS, DTI, FMRI

Detailed Description:

The overall goal of this project is to characterize metabolic, structural and cognitive changes in OTCD using 1H MRS, DTI, volumetric averaging and fMRI with cognitive testing of executive function measures to validate biomarkers for the effect of HA and its treatment on the brain.

We will measure gln and mI in blood and brain (using 1H MRS) in affected participants, and mI in brain in controls, fractional anisotropy as a measure of white matter microstructural damage (by DTI) and brain activation pathways alterations with tasks probing working memory (fMRI). As a secondary outcome measure, we will correlate the findings from neuroimaging with cognitive functioning. This protocol is based on our previous 5104 and now includes children to evaluate the age and stage of disease on these indices in a cohort that is undergoing important developmental events against an age matched typically developing cohort.

  Eligibility

Ages Eligible for Study:   7 Years to 60 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Sampling Method:   Probability Sample
Study Population

Males and females, ages 7-60 years with ornithine transcarbamylase deficiency Males and females, ages 7-60 years who are healthy controls without ornithine transcarbamylase deficiency

Criteria

Inclusion Criteria:

Subject inclusion criteria:

  1. Patients with OTCD;
  2. Age range: 7-60 years
  3. Able to undergo neuroimaging safely (i.e. without presence of ferromagnetic devices)
  4. Subject has a documented full scale IQ > 70

Control participant inclusion criteria:

  1. Healthy males and females without metabolic disease aged 7-60 years
  2. Subject has a documented full scale IQ > 70

Exclusion Criteria:

Subject exclusion criteria:

  1. Mental retardation (i.e., Full Scale IQ< 70)
  2. Age range <7 or >60 years
  3. Presence of ferromagnetic device(s) that preclude safe imaging
  4. Pregnant female

Control exclusion criteria:

  1. Subjects with a documented history of an intellectual deficit (i.e., Full Scale IQ< 70)
  2. Age range <7 or >60 years
  3. Presence of ferromagnetic device(s) that preclude safe imaging
  4. Pregnant female
  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT01569568

Contacts
Contact: Andrea L Gropman, M.D, 202-476-3511 agropman@childrensnational.org

Locations
United States, District of Columbia
Children's Research Institute Recruiting
Washington, District of Columbia, United States, 20010
Principal Investigator: Andrea L Gropman, M.D.            
Sub-Investigator: Mark L Batshaw, M.D.            
Sponsors and Collaborators
Children's Research Institute
Investigators
Principal Investigator: Andrea L Gropman, M.D. Children's Research Institute
  More Information

Additional Information:
Family support group  This link exits the ClinicalTrials.gov site
Urea cycle consortium site  This link exits the ClinicalTrials.gov site

Publications:

Responsible Party: Children's Research Institute
ClinicalTrials.gov Identifier: NCT01569568     History of Changes
Other Study ID Numbers: UCRDC 5107
Study First Received: March 30, 2012
Last Updated: April 2, 2012
Health Authority: United States: Institutional Review Board

Keywords provided by Children's Research Institute:
Neuroimaging
MRI
Urea cycle
 hyperammonemia
cognitive function
ornithine transcarbamylase deficiency

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

ClinicalTrials.gov processed this record on May 23, 2013