CompletedNot Applicable

Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia (ECP-012)

Spain30 participantsStarted 2012-03

Plain-language summary

The study proposes to enroll male subjects affected by Hypohidrotic Ectodermal Dysplasia (XLHED). The sweat duct images will be acquired with a CE marked skin-imaging device and the sweat rate will be measured using a CE marked pilocarpine iontophoresis and collection system. The technologies for both imaging of sweat ducts and the measurement of maximal sweat rate have been used safely and without adverse events in our prior studies involving HED/XLHED subjects. Furthermore, this study will assess the feasibility of developing a non-invasive screening tool that will enable detection of clinical signs of XLHED based on an analysis of a two dimensional frontal photograph.

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: Subjects must meet all of the following criteria to be enrolled in this study. * Attending the 2012 Spanish Association for those Affected by Ectodermal Dysplasia Annual Reunion; * 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. * Can provide documentation of genetic testing results positive for an EDA gene mutation /deletion; * As described in Section 3.2 above, subjects must meet one of the following criteria: * Documented diagnosis of XLHED confirmed via genetic testing; * Unaffected male controls. Exclusion Criteria: * Known hypersensitivity to pilocarpine or pilocarpine-like muscarinic agonists; * Presence of pacemakers; * Subjects who are not able or are not willing to comply with the procedure…

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

Collecting demographic and clinical status information in XLHED affected males and unaffected male siblings using a medical questionnaire and clinical photographs

Timeframe: Study day 1 - Day of study conduct

Assess the feasibility of developing a non-invasive newborn screening tool, which will enable detection of clinical symptoms of HED/XLHED at birth, based on an analysis of a two dimensional photograph

Timeframe: Study day 1 - Day of study conduct

Trial details

NCT IDNCT01629927

SponsorEdimer Pharmaceuticals

Sponsor typeINDUSTRY

Study typeOBSERVATIONAL

Primary completion2012-04

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

Plain-language summary

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.

What they're measuring

Collecting demographic and clinical status information in XLHED affected males and unaffected male siblings using a medical questionnaire and clinical photographs

Timeframe: Study day 1 - Day of study conduct