Mode
Home
Research
Clinical Trials Drug Pipeline Weekly Digests
Reference
Conditions Medications
Community
Questions
Text Size
Log in / Sign up
N/A N=46

Neurologic Injuries in Adults With Urea Cycle Disorders

Brain Diseases, Metabolic, Inborn · Urea Cycle Disorder · Ornithine Transcarbamylase Deficiency

Bottom Line

View on ClinicalTrials.gov: NCT00472732 ↗
Enrolled (actual)
46
Serious AEs
0.0%
Results posted
May 2015
Primary outcome: Primary: Concentration of Glutamine and Myoinositol by MRS — 4.97; 3.66; 3.78; 4.50 mM — p=0.003

Study Design & Population

Study type
Observational
Phase
N/A
Interventions
—
Age
Adult · 18+ yrs
Sex
All
Sponsor
Andrea Gropman
Primary completion
Jul 2009

Outcome Measures

OutcomeResultp-value
PRIMARY
Concentration of Glutamine and Myoinositol by MRS		 4.97; 3.66; 3.78; 4.50; 2.13; 1.09 0.003 sig
PRIMARY
Functional MRI Activation in N-Back Tast		 0.21; 0.04; 0.22; 0.15; 0.515; 0.28 <0.05 sig
PRIMARY
Fractional Anisotropy		 0.247; 0.274 <0.001 sig

Summary

Urea cycle disorders (UCDs) are a group of rare inherited metabolism disorders. The purpose of this study is to evaluate how UCD-related neurologic injuries affect adults with one of the most common types of UCD.

Eligibility Criteria

Inclusion Criteria for Participants with OTCD:

  • Diagnosis of OTCD or heterozygote state of OTCD by metabolic or molecular means. Female participants must be clinically stable and heterozygous for OTCD. Male participants must be hemizygous for late onset OTCD.

Inclusion Criteria for Healthy Controls:

  • No known medical or metabolic disorder

Inclusion Criteria for All Participants:

  • IQ of at least 80
  • Willing to travel to study site
  • English-speaking
  • Age between 18 and 60 years

Exclusion Criteria for All Participants:

  • Currently being treated for an acute illness
  • History of neuropsychiatric drug use
  • Unable to undergo MRI scanning without being sedated
  • Unable to participate in neurocognitive and/or motor testing
  • Metal device in body that might interfere with MRI scanning
  • Pregnancy or breastfeeding
View full record on ClinicalTrials.gov →

Data sourced from ClinicalTrials.gov (NCT00472732). 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.

Back to search