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

Brief Title

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

Official Title

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

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.
    


Study Type

Observational


Primary Outcome

Concentration of Glutamine and Myoinositol

Secondary Outcome

 Neuropsychological Assessment

Condition

Ornithine Transcarbamylase Deficiency

Intervention

MRI scanning

Study Arms / Comparison Groups

 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

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information


Recruitment Status

Other

Estimated Enrollment

49

Start Date

September 2010

Completion Date

August 2014

Primary Completion Date

August 2014

Eligibility 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

Ages

7 Years - 60 Years

Accepts Healthy Volunteers

Accepts Healthy Volunteers

Contacts

Andrea L Gropman, M.D., , 



Administrative Informations


NCT ID

NCT01569568

Organization ID

UCRDC 5107


Responsible Party

Sponsor-Investigator

Study Sponsor

Andrea Gropman

Collaborators

 Children's National Research Institute

Study Sponsor

Andrea L Gropman, M.D., Principal Investigator, Children's National Research Institute


Verification Date

April 2017