An observational study in X Linked Hypohidrotic Ectodermal Dysplasia, sponsored by Edimer Pharmaceuticals. Completed at 1 site in United States. Open to participants aged 4 Years and older, including healthy volunteers. Per ClinicalTrials.gov, last updated 2013-11-27.
Sponsored by Edimer Pharmaceuticals · Observational
The current study design incorporates two previously developed, non-invasive approaches to characterize the phenotype of individuals affected with XLHED.
The current study design incorporates two previously developed, non-invasive approaches to characterize the phenotype of individuals affected with XLHED. Facial 3-dimensional (3D) imaging will be created from white-field morphometric scanning (Hammond, 2004. The 3D facial photographs collected from males (ages 4 years and up) will be used to develop a non-invasive screening tool, which could enable detection of craniofacial signs of XLHED in the newborn period. 3D facial profiling has been reported to be effective in identifying HED (Dellavia et al., 2008), but the technology does not yet meet the ease-of-use criteria for a universal screening tool.
Standard 2-dimensional (2D) frontal and lateral facial photographs will be taken of the same XLHED-affected male subjects as well as of adult females (ages 18-45 yrs) at risk for being XLHED carriers and unaffected adult female controls. The 2D facial photographs will serve a dual purpose; the first being to beta-test a previously developed algorithm to identify males affected with XLHED (Automatic Phenotype Identification of XLHED Patients Final Report, December 25, 2012, unpublished), and the second to adapt the facial recognition algorithm to identify female carriers of XLHED.
21 studies on the registry are indexed under Ectodermal Dysplasia 1, Anhidrotic; 1 is open to participants now.
This study's enrollment of 30 is close to the median of 33 across 16 observational studies indexed under Ectodermal Dysplasia 1, Anhidrotic.
Browse Ectodermal Dysplasia 1, Anhidrotic studies →Edimer Pharmaceuticals is the lead sponsor of 13 studies on the registry; none are open to participants now.
Counted across the registry records on this site, refreshed daily.
XLHED affected males and females and unaffected female controls
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
All males ages 4 and up affected by XLHED
Adult females (ages 18-45) affected by XLHED
Unaffected adult female controls (ages 18-45)
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
Time frame: 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
Time frame: 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
Time frame: 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
Time frame: Study day 1
To test the validity of a using saliva samples for genetic testing
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
Time frame: Study day 1
This study is completed, as verified in Nov 2013. You cannot join it, but the record below documents what was studied.
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Ectodermal Dysplasia 1, Anhidrotic →
Edimer Pharmaceuticals