N/A N=49

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

Ornithine Transcarbamylase Deficiency

Bottom Line

View on ClinicalTrials.gov: NCT01569568 ↗

Enrolled (actual)

Serious AEs

0.0%

Results posted

Apr 2017

Primary outcome: Primary: Concentration of Glutamine and Myoinositol — 2.61; 1.66; 2.23; 2.69 mM — p=0.001

Study Design & Population

Study type: Observational
Phase: N/A
Interventions: MRI scanning (Other); Cognitive testing (Behavioral)
Age: Pediatric, Adult · 7+ yrs
Sex: All
Sponsor: Andrea Gropman
Primary completion: Aug 2014

Outcome Measures

Outcome	Result	p-value
PRIMARY Concentration of Glutamine and Myoinositol	2.61; 1.66; 2.23; 2.69; 5.22; 3.62	0.001 sig
PRIMARY Functional Connectivity of Assessed by Resting-state fMRI	-0.86; 0.18; -0.10; 0.12; -0.26; 0.07	<0.001 sig
PRIMARY Fractional Anisotropy Assessed Using DTI	0.25; 0.3	—
SECONDARY Neuropsychological Assessment	107.33; 107.77; 98.5; 112.59; 103.28; 111.22	.929

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

Eligibility Criteria

Inclusion Criteria

Subject inclusion criteria:

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

Control participant inclusion criteria:

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

Exclusion Criteria

Subject exclusion criteria:

Mental retardation (i.e., Full Scale IQ 60 years
Presence of ferromagnetic device(s) that preclude safe imaging
Pregnant female

Control exclusion criteria:

Subjects with a documented history of an intellectual deficit (i.e., Full Scale IQ 60 years
Presence of ferromagnetic device(s) that preclude safe imaging
Pregnant female

View full record on ClinicalTrials.gov →

Data sourced from ClinicalTrials.gov (NCT01569568). Outcome figures and adverse-event rates are extracted automatically from the registry's posted results and are provided for clinician reference, not as a substitute for the primary publication.