CompletedNot Applicable

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

United States36 participantsStarted 2012-06

Plain-language 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.

Who can participate

Sex

MALE

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion criteria

. 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:
. As described in Section 3.2 above, subjects must meet one of the following criteria:

Exclusion criteria

. 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.

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Exploratory Objective - To collect demographic and clinical status information in male subjects affected by HED using a medical questionnaire

Timeframe: 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

Timeframe: Study day 1 - Day of study conduct

Exploratory Objective - To identify nutritional patterns associated with XLHED

Timeframe: 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

Timeframe: Study day 1 - Day of study conduct

Trial details

NCT IDNCT01629940

SponsorEdimer Pharmaceuticals

Sponsor typeINDUSTRY

Study typeOBSERVATIONAL

Primary completion2012-07

View on ClinicalTrials.gov More X-linked Hypohidrotic Ectodermal Dysplasia trials

Plain-language summary

Who can participate

Sex

MALE

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion criteria

. 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:
. As described in Section 3.2 above, subjects must meet one of the following criteria:

Exclusion criteria

. 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.

What they're measuring

Exploratory Objective - To collect demographic and clinical status information in male subjects affected by HED using a medical questionnaire

Timeframe: 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

Timeframe: Study day 1 - Day of study conduct

Exploratory Objective - To identify nutritional patterns associated with XLHED

Timeframe: 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

Timeframe: Study day 1 - Day of study conduct