CompletedNot Applicable

Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia: Intrafamilial Variation

United States64 participantsStarted 2011-06

Plain-language summary

This study in affected Hypohidrotic Ectodermal Dysplasia (HED) males and unaffected male controls, age 1 year and up, will use minimally invasive devices to image sweat ducts in intact skin, to measure stimulated sweat rate, and in a subset of subjects to collect clipped scalp hair samples for RNA analysis. This study is descriptive in nature and is intended to assess the ability to use innovative approaches to generate data from subjects over a wide age spectrum, with particular emphasis on phenotype variability between male siblings (same mutation).

Who can participate

Age range

1 Year

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: * Registered and attending the 2011 NFED Family Conference; * One year of age or greater; * 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 with the clinical characteristics of HED, including at least a history of decreased sweating and either abnormal teeth (fewer permanent teeth, teeth are smaller than average and often have conical crowns), and/or sparseness of scalp and body hair (Male HED subjects with an affected sibling also enrolling in the study will be given priority to be in the study); * Healthy male controls, i.e. either unaffected male family members or unaffected male volunteers. Exclusion Criteria: * Known hyperse…

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

Use skin assessment techniques to characterize skin properties in male subjects affected by HED compared with healthy controls, including determination of the number of sweat ducts and the rate of sweating

Timeframe: Day of study conduct

Trial details

NCT IDNCT01386775

SponsorEdimer Pharmaceuticals

Sponsor typeINDUSTRY

Study typeOBSERVATIONAL

Primary completion2011-07

View on ClinicalTrials.gov More Hypohidrotic Ectodermal Dysplasia trials