An observational study in X-linked Hypohidrotic Ectodermal Dysplasia and Hypohidrotic Ectodermal Dysplasia, sponsored by Edimer Pharmaceuticals. Completed at 1 site in United States. Open to male participants, including healthy volunteers. Per ClinicalTrials.gov, last updated 2012-12-18.
Sponsored by Edimer Pharmaceuticals · Observational
The investigators propose to obtain facial photographs for use in testing a computer algorithm that recognizes males at high risk for Hypohidrotic Ectodermal Dysplasia (XLHED). FDNA (www.fdna.com), a software company with expertise in the area of facial recognition, is collaborating with the Sponsor in algorithm development based on 2D photographs not requiring special photographic technologies. A frontal facial photograph will be taken at the time of study conduct. The anonymized photographs will be transmitted to FDNA for analysis. A limited number of unaffected controls will be also be recruited.
A subset of affected males between ages 5 and 25 years will have the option of having a blood draw for a set of laboratory studies assessing nutritional status.
As the first exploratory objective for this study, we propose to obtain facial photographs for use in testing a computer algorithm that recognizes males at high risk for XLHED. While 3D facial profiling has been reported in HED, the technology does not meet the ease-of-use criteria for a universal screening tool. FDNA (www.fdna.com), a software company with expertise in the area of facial recognition, is collaborating with the Sponsor in algorithm development based on 2D photographs not requiring special photographic technologies. All males at risk for a diagnosis of XLHED and attending the 2012 NFED Family Conference will be eligible to participate. A short medical questionnaire will verify the clinical presentation, they will be requested to provide a baby photograph taken at up to 1 month of age (to be returned at study completion), and a frontal facial photograph will be taken at the time of study conduct. The anonymized photographs will be transmitted to FDNA for analysis. A limited number of unaffected controls will be recruited at the 2012 NFED Family Conference for the photography study, in addition to the control data already available in the FDNA database.
As a second exploratory objective, a subset of affected males between ages 5 and 25 years will have the option of having a blood draw for a set of laboratory studies assessing nutritional status. HED-affected patients in general (including XLHED) are reported to have evidence of growth restriction (weight for height) in this age range without clear mechanistic evidence. A screening panel of nutritional laboratory tests has been designed in collaboration with experts in the field at the University of California, San Francisco (UCSF). Anonymized samples will be analyzed at UCSF.
This study is being conducted among family members attending the 2012 National Foundation for Ectodermal Dysplasia (NFED) Family Conference, July 19-21, 2012, in Orlando, FL.
Conform to one of the following requirements for providing informed consent/assent:
As described in Section 3.2 above, subjects must meet one of the following criteria:
Exclusion Criteria:
Male subjects affected by HED
Male subjects not affected by HED
Exploratory Objective - To collect demographic and clinical status information in male subjects affected by HED using a medical questionnaire
Time frame: Study day 1 - Day of study conduct
Exploratory Objective - To test and refine a computer algorithm for facial recognition of XLHED based on 2D facial photographs
Time frame: Study day 1 - Day of study conduct
Exploratory Objective - To identify nutritional patterns associated with XLHED
Time frame: Study day 1 - Day of study conduct
Exploratory Objective - To test for the presence of genetic mutations in a subset of HED-affected subjects enrolled in this study who lack prior genetic diagnosis
Time frame: Study day 1 - Day of study conduct
This study is completed, as verified in Dec 2012. You cannot join it, but the record below documents what was studied.
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Edimer Pharmaceuticals