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

Completed

Conditions studied: X-linked Hypohidrotic Ectodermal Dysplasia, Hypohidrotic Ectodermal Dysplasia

In brief

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.

Key facts

Study ID

NCT01629940

Run by

Edimer Pharmaceuticals

People needed

36

Starts

2012-06-01

Expected to finish

2012-10-01

Last updated by the study team

2012-12-18

Who can join

Age: any. Sex: male. Healthy volunteers: accepted.

You may qualify if…

• Males of any age who are registered and attending the 2012 NFED Family Conference;
• Conform to one of the following requirements for providing informed consent/assent:
• if more than 18 years of age, subjects must provide signed informed consent;
• if less than 18 years of age and it is determined that the subject is capable of providing assent, both the assent of the subject and consent of the parent(s) or guardian of that subject must be granted. Under this condition, both parents of the subject should give their permission, unless 1 parent is deceased, unknown, incompetent, or not available;
• if the subject is incapable of providing assent, the consent of the parent(s) or guardian of the subject must be granted. Under this condition, both parents should give their consent, unless 1 parent is deceased, unknown, incompetent, or not available.
• As described in Section 3.2 above, subjects must meet one of the following criteria:
• Male subjects of original gender with genetic confirmation of an EDA mutation or with the clinical characteristics of HED including a history of decreased sweating;
• Unaffected, healthy male controls.

You may not qualify if…

• Subjects who are not able or are not willing to comply with the procedures of this protocol.
• Subjects with any major medical problem that will prevent them from participating in this study.
• HED-affected male subjects who have had prior genetic testing confirming they do not have the X-linked form of the disorder.

Where it is running

• Buenavista Palace Hotel and Spa — Orlando, Florida, United States

Full record on ClinicalTrials.gov

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