Clinical Trial: 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

Study Status: Completed
Recruit Status: Completed
Study Type: Observational




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 Nutritio

Brief Summary:

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.