X-linked Hypohidrotic Ectodermal Dysplasia Clinical Trial
Official title:
Phenotypic and Genetic Properties in Males at Risk for X-linked Hypohidrotic Ectodermal Dysplasia: Evaluation of an Early Diagnosis Technology and Tests to Assess Nutritional Status
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.
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