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

Study Results

Results available

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Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

49 participants

Study Classification

OBSERVATIONAL

Study Start Date

2010-09-30

Study Completion Date

2014-08-31

Brief Summary

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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

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Detailed Description

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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.

Conditions

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Ornithine Transcarbamylase Deficiency

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Subjects with OTCD

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

MRI scanning

Intervention Type OTHER

1H MRS, DTI, FMRI

Cognitive testing

Intervention Type BEHAVIORAL

Behavioral testing

Healthy controls

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

MRI scanning

Intervention Type OTHER

1H MRS, DTI, FMRI

Cognitive testing

Intervention Type BEHAVIORAL

Behavioral testing

Interventions

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MRI scanning

1H MRS, DTI, FMRI

Intervention Type OTHER

Cognitive testing

Behavioral testing

Intervention Type BEHAVIORAL

Other Intervention Names

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MRI

Eligibility Criteria

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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

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

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

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

Minimum Eligible Age

7 Years

Maximum Eligible Age

60 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes