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CompletedNCT01108770Updated Aug 21, 2012

Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia

An observational study in Ectodermal Dysplasia, sponsored by Edimer Pharmaceuticals. Completed at 1 site in United States. Open to male participants aged 1 Year and older, including healthy volunteers. Per ClinicalTrials.gov, last updated 2012-08-21.

Primary conditionEctodermal Dysplasia 1, AnhidroticRegistry: Ectodermal DysplasiaReclassifiedWhy we changed it
Registry
Ectodermal Dysplasia — the first condition term the registry derived for this study.
ClinicalTrials.gg
Ectodermal Dysplasia 1, Anhidrotic
Why
  1. The study's title name Ectodermal Dysplasia 1, Anhidrotic, a narrower term within Ectodermal Dysplasia.
Confidence
High: the new condition is named in the study's own title. Of 46 hand-checked studies reclassified this way, 72% were exactly right and 89% in the right disease family; the registry's first term was right for 4% (measured 2026-10-21). How we classify →
Wrong?
Tell us the study's main condition →

Sponsored by Edimer Pharmaceuticals · Observational

Study type
Observational
Enrollment
62
Ages
1 Year and older
Sex
Male
01

Study summary

To characterize skin properties in male subjects with HED

Read the detailed description

This study is designed to obtain information from male subjects with HED and unaffected male control subjects. The study will consist of the standardized collection of data from HED medical history questionnaires and non-invasive tests. A subset of subjects will undergo genetic testing. All data will be collected from families attending the 2010 NFED Family Conference, July 22-24, 2010, in Colorado Springs, CO.

Since HED is a rare disease, it is difficult to obtain reliable data on a sufficient number of subjects in any one region. The NFED Family Conference is a location where families affected with HED come together, and therefore, presents an ideal location to obtain data needed to design future studies. As the procedures are non-invasive and are designed to take a relatively short period of time, subjects can participate in this study while attending the NFED Family Conference.

02

Conditions studied

  • Ectodermal Dysplasia

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Keywords

  • HED
  • XLHED
  • Hypohidrotic Ectodermal Dysplasia
03

In context

Ectodermal Dysplasia 1, Anhidrotic Reclassified

21 studies on the registry are indexed under Ectodermal Dysplasia 1, Anhidrotic; 1 is open to participants now.

This study's enrollment of 62 is above the median of 33 across 16 observational studies indexed under Ectodermal Dysplasia 1, Anhidrotic.

Browse Ectodermal Dysplasia 1, Anhidrotic studies →

Lead sponsor

Edimer Pharmaceuticals is the lead sponsor of 13 studies on the registry; none are open to participants now.

Compared within Ectodermal Dysplasia 1, Anhidrotic, this study's primary condition as ClinicalTrials.gg classifies it; the registry's first condition term is Ectodermal Dysplasia. The counts are of registry records indexed under each term, refreshed daily. How we classify →

04

Who can participate

Ages eligible
1 Year and older
Sexes eligible
Male
Accepts healthy volunteers
Yes
Sampling method
Non-probability sample

Study population

Male subjects with HED or unaffected controls

Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.

Inclusion criteria

  1. Registered and attending the 2010 NFED Family Conference;
  2. One year of age or greater;

  3. Conform to one of the following requirements for providing :

    • 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.

  4. Subjects must meet one of the following criteria:

    • Male subjects of original gender 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;
    • Healthy male controls, i.e. either unaffected male family members or unaffected male volunteers.

Exclusion criteria

Exclusion Criteria:

  1. Known to pilocarpine or pilocarpine-like muscarinic agonists.
  2. Presence of pacemakers.
  3. Subjects who are not able or are not willing to comply with the procedures of this protocol.
  4. Subjects with any major medical problem that will prevent them from participating in this study.
Terms in these criteria, in plain language(2)

Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.

Informed consent

Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.

You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.

Hypersensitivity

An allergy, or another reaction of the immune system, to a substance. “Hypersensitivity to the study drug” means a known allergic reaction to it — not every side effect a medicine can have.

05

Study design

Enrollment
62 participants (actual)
Biospecimen retention
Samples with dna

Groups and cohorts

  • HED affected males
  • Unaffected male controls
06

What researchers measure

Primary outcomes

  1. Characterization of skin properties in HED affected male subjects compared with healthy controls

    The primary objective of this descriptive study is to 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 glands and the rate of sweating.

    Time frame: Two assessments conducted once during study day.

Secondary outcomes

  1. Collecting demographic information and clinical status in male subjects affected by HED using a medical questionnaire.

    Time frame: Collected once during study day.

  2. Testing for the presence of ectodysplasin A (EDA) gene mutations in a subset of subjects enrolled in this study.

    Time frame: Collected once during study day.

07

Study locations

1 site
  • Cheyenne Mountain Resort
    Colorado Springs, Colorado 80906, United States
08

Timeline

Tracking since Sep 25, 2026
Not marked actual or estimatedDates not marked actual or estimated

The record gives a start of Jul 2010, a primary completion of Jul 2010 and a completion of Oct 2010. It does not say whether these dates are actual or estimated.

How these figures are worked out, and which studies are left out of them.

Registered
Apr 21, 2010
First posted
Apr 22, 2010
Start
Jul 2010
Primary completionActual
Jul 2010
CompletionActual
Oct 2010
Last update
Aug 21, 2012
What these dates mean
Start.
When the first participant enrolled; while estimated, when the study expects to open to recruitment.
Primary completion.
When the last participant was examined or treated to collect data for the study's main question, its primary outcome. A study that stopped early gives the date its data collection stopped.
Completion.
When the last participant's last visit took place, for every outcome, secondary ones and side effects included: the end of the study. Often later than primary completion, sometimes the same day.
Actual and Est.
Actual means the registry says the date has happened. Est. (estimated) is a date the sponsor plans or expects. It can still move, and the sponsor is expected to change it to actual once it has passed.
No changes since tracking began. The registry record was last updated on Aug 21, 2012, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
09

Registry details

Key details

Study ID
NCT01108770
Lead sponsor
Edimer Pharmaceuticals
Responsible party
Sponsor
First posted
Apr 22, 2010
Start date
Jul 2010
Primary completion
Jul 2010
Completion
Oct 2010
Last update
Aug 21, 2012

Study contacts

Dorothy K Grange, MD
principal investigator · Washington University School of Medicine

Oversight

Data monitoring committee
No
View the source record on ClinicalTrials.gov ↗

Not currently enrolling

This study is completed, as verified in Aug 2012. You cannot join it, but the record below documents what was studied.

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Discussion

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Edimer Pharmaceuticals

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