Phenotypic Properties in Individuals Affected With XLHED
ECP-014
ECP-014
Sponsor study identifier
observational
30
1 country
1
Study Start
May 2013
Date type not reportedThis date has not been verified as actual or estimated.
Primary Completion
July 2013
Actual (reported)Study Completion
September 2013
Actual (reported)The current study design incorporates two previously developed, non-invasive approaches to characterize the phenotype of individuals affected with XLHED.
Registry-reported information. Elapsed time and enrollment totals alone do not measure study progress or recruitment pace.
September 2013
Actual (reported)Click on a node to explore related trials.
Dates and qualifiers reported by the registry. Estimated dates do not confirm that a milestone has occurred.
May 2013
Date type not reportedThis date has not been verified as actual or estimated.
June 3, 2013
Actual (reported)June 7, 2013
Actual (reported)July 2013
Actual (reported)September 2013
Actual (reported)To collect demographic and clinical status information in XLHED-affected males, adult females at risk for XLHED and adult female controls
To collect demographic and clinical status information in XLHED-affected males, adult females at risk for XLHED and adult female controls using a medical questionnaire
Study day 1
To test and refine a computer algorithm for facial recognition of XLHED
To test and refine a computer algorithm for facial recognition of XLHED based on 2D facial photographs obtained from subjects at risk for XLHED and controls
Study day 1
To evaluate 3-dimensional facial imaging technology for mapping craniofacial development in XLHED males
To evaluate 3-dimensional facial imaging technology for mapping craniofacial development in XLHED males
Study day 1
To test for the presence of genetic mutations in subjects at risk for XLHED
To test for the presence of genetic mutations in subjects at risk for XLHED who lack prior genetic diagnosis
Study day 1
To test the validity of a using saliva samples for genetic testing
All males ages 4 and up affected by XLHED
Adult females (ages 18-45) affected by XLHED
Unaffected adult female controls (ages 18-45)
XLHED affected males and females and unaffected female controls
Omni Houston Hotel
Houston, Texas, 77056, United States
Genetic tests will be carried out in a subset of subject in order to confirm XLHED status.
Dorothy K Grange, MD
Washington University School of Medicine
30 participants (actual enrollment reported by the registry).
First Submitted
June 3, 2013
First Posted
June 7, 2013
Study Start
May 2013
Date type not reportedThis date has not been verified as actual or estimated.
To test the validity of a using saliva samples for genetic testing buy simultaneously perform genetic testing on blood and salvia and comparing the mutations identified
Study day 1
Contact the study team to confirm eligibility.
Primary Completion
July 2013
Actual (reported)Study Completion
September 2013
Actual (reported)Last Updated
November 27, 2013
Record last verified: 2013-11
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Source: ClinicalTrials.gov.
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