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Neurologic Injuries in Adults With Urea Cycle Disorders

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ClinicalTrials.gov Identifier: NCT00472732
Recruitment Status : Completed
First Posted : May 14, 2007
Results First Posted : May 29, 2015
Last Update Posted : June 24, 2015
Sponsor:
Collaborators:
Office of Rare Diseases (ORD)
Rare Diseases Clinical Research Network
National Center for Research Resources (NCRR)
Information provided by (Responsible Party):
Andrea Gropman, Children's Research Institute

Study Type: Observational
Study Design: Observational Model: Cohort;   Time Perspective: Prospective
Conditions: Brain Diseases, Metabolic, Inborn
Urea Cycle Disorder
Ornithine Transcarbamylase Deficiency

  Participant Flow

Recruitment Details
Key information relevant to the recruitment process for the overall study, such as dates of the recruitment period and locations
No text entered.

Pre-Assignment Details
Significant events and approaches for the overall study following participant enrollment, but prior to group assignment
No text entered.

Reporting Groups
  Description
Female Carriers of Ornithine Transcarbamylase Deficiency (OTCD Female carriers of ornithine transcarbamylase deficiency (OTCD) or males with late onset presentation of OTCD
Healthy Males or Females Without Known Medical or Metabolic di Healthy males or females without known medical or metabolic disorder (control group)

Participant Flow:   Overall Study
    Female Carriers of Ornithine Transcarbamylase Deficiency (OTCD   Healthy Males or Females Without Known Medical or Metabolic di
STARTED   24   22 
COMPLETED   24   22 
NOT COMPLETED   0   0 



  Baseline Characteristics

Population Description
Explanation of how the number of participants for analysis was determined. Includes whether analysis was per protocol, intention to treat, or another method. Also provides relevant details such as imputation technique, as appropriate.
Half of the subjects were affected and half were normal controls age 18-60

Reporting Groups
  Description
Female Carriers of Ornithine Transcarbamylase Deficiency (OTCD Female carriers of ornithine transcarbamylase deficiency (OTCD) or males with late onset presentation of OTCD
Healthy Males or Females Without Known Medical or Metabolic di Healthy males or females without known medical or metabolic disorder (control group)
Total Total of all reporting groups

Baseline Measures
   Female Carriers of Ornithine Transcarbamylase Deficiency (OTCD   Healthy Males or Females Without Known Medical or Metabolic di   Total 
Overall Participants Analyzed 
[Units: Participants]
 24   22   46 
Age, Customized 
[Units: Years]
Mean (Full Range)
     
Age   32.55 
 (18 to 58) 
 32.38 
 (18 to 59) 
 32.46 
 (18 to 59) 
Gender 
[Units: Participants]
     
Female   17   19   36 
Male   7   3   10 
Ethnicity (NIH/OMB) 
[Units: Participants]
     
Hispanic or Latino   1   1   2 
Not Hispanic or Latino   23   21   44 
Unknown or Not Reported   0   0   0 
Race (NIH/OMB) 
[Units: Participants]
     
American Indian or Alaska Native   0   0   0 
Asian   1   2   3 
Native Hawaiian or Other Pacific Islander   0   0   0 
Black or African American   0   5   5 
White   23   15   38 
More than one race   0   0   0 
Unknown or Not Reported   0   0   0 
Region of Enrollment 
[Units: Participants]
     
United States   24   22   46 


  Outcome Measures

1.  Primary:   Concentration of Glutamine and Myoinositol by MRS   [ Time Frame: one time measurement at study baseline ]

2.  Primary:   Functional MRI Activation in N-Back Tast   [ Time Frame: one time measurement at study baseline ]

3.  Primary:   Fractional Anisotropy   [ Time Frame: one time measurement at study baseline ]


  Serious Adverse Events


  Other Adverse Events


  Limitations and Caveats

Limitations of the study, such as early termination leading to small numbers of participants analyzed and technical problems with measurement leading to unreliable or uninterpretable data
This study examined the neurobiological differences between OTCD patients and controls. This was, however, not a clinical trial, since participants received no form of drug therapy or treatment as part of this study.


  More Information

Certain Agreements:  
Principal Investigators are NOT employed by the organization sponsoring the study.
There is NOT an agreement between Principal Investigators and the Sponsor (or its agents) that restricts the PI's rights to discuss or publish trial results after the trial is completed.


Results Point of Contact:  
Name/Title: Andrea Gropman, M.D.
Organization: Children's Research Institute
phone: 202-476-2120
e-mail: agropman@childrensnational.org


Publications:

Responsible Party: Andrea Gropman, Children's Research Institute
ClinicalTrials.gov Identifier: NCT00472732     History of Changes
Other Study ID Numbers: RDCRN 5104
U54RR019453 ( U.S. NIH Grant/Contract )
First Submitted: May 11, 2007
First Posted: May 14, 2007
Results First Submitted: April 22, 2015
Results First Posted: May 29, 2015
Last Update Posted: June 24, 2015