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

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

Sponsors

Lead Sponsor: Andrea Gropman

Collaborator: Children's National Research Institute

Source Children's National Research Institute
Brief Summary

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

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. The investigators 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, the investigators will correlate the findings from neuroimaging with cognitive functioning. This protocol is based on the previous 5104 protocol, 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.

Overall Status Completed
Start Date 2010-09-01
Completion Date 2014-08-01
Primary Completion Date 2014-08-01
Study Type Observational
Primary Outcome
Measure Time Frame
Concentration of Glutamine and Myoinositol Baseline
Functional Connectivity of Assessed by Resting-state fMRI Baseline
Fractional Anisotropy Assessed Using DTI Baseline
Secondary Outcome
Measure Time Frame
Neuropsychological Assessment Baseline
Enrollment 49
Condition
Intervention

Intervention Type: Other

Intervention Name: MRI scanning

Description: 1H MRS, DTI, FMRI

Other Name: MRI

Intervention Type: Behavioral

Intervention Name: Cognitive testing

Description: Behavioral testing

Eligibility

Sampling Method:

Probability Sample

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

Gender:

All

Minimum Age:

7 Years

Maximum Age:

60 Years

Healthy Volunteers:

Accepts Healthy Volunteers

Overall Official
Last Name Role Affiliation
Andrea L Gropman, M.D. Principal Investigator Children's National Research Institute
Verification Date

2017-04-01

Responsible Party

Type: Sponsor-Investigator

Investigator Affiliation: Children's National Research Institute

Investigator Full Name: Andrea Gropman

Investigator Title: MD

Keywords
Has Expanded Access No
Condition Browse
Arm Group

Label: Subjects with OTCD

Description: males and females ages 7-60 years with OTCD who are able to undergo MRI and cognitive testing MRI scanning 1H MRS, DTI, FMRI Cognitive testing Neuropsychological testing

Label: Healthy controls

Description: males and females ages 7-60 years who are healthy controls who are able to undergo MRI and cognitive testing MRI scanning 1H MRS, DTI, FMRI Cognitive testing Neuropsychological testing

Patient Data Yes
Study Design Info

Observational Model: Cohort

Time Perspective: Prospective

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