Ectodermal DysplasiaNCT01108770
Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia
An observational study of Ectodermal Dysplasia, run by Edimer Pharmaceuticals at 1 site in United States.
Trial summary
To characterize skin properties in male subjects with HED Read more about this study
- Who is it for?
- Ages 1 year and older, men onlyHealthy volunteers can take part
- Conditions the study is for
- Ectodermal Dysplasia
- How many people
- 62 participants
- Where
- 1 siteUnited States
- Study dates
- Jul 2010to Oct 2010
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 year and older
- Men only
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Male subjects with HED or unaffected controls
Who may be able to join
- Registered and attending the 2010 NFED Family Conference;
- One year of age or greater;
- Conform to one of the following requirements for providing informed consent:
- 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.
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- 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.
Who cannot join
- 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 procedures of this protocol.
- Subjects with any major medical problem that will prevent them from participating in this study.
Trial locations and contacts
1 site in 1 country.
United States1 site
Cheyenne Mountain Resort
Colorado Springs, Colorado, 80906
About this study
Official title: Evaluation of Phenotypic and Genetic Properties in Male Subjects With Hypohidrotic Ectodermal Dysplasia and Their Family Members
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.
- Conditions
- Ectodermal Dysplasia
- Keywords
- HED, XLHED, Hypohidrotic Ectodermal Dysplasia
- Medical subject headings
- Ectodermal Dysplasia, Ectodermal Dysplasia 1, Anhidrotic
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| HED affected males | Not described | |
| Unaffected male controls | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: Two assessments conducted once during study day.
Secondary outcomes (2)
Collecting demographic information and clinical status in male subjects affected by HED using a medical questionnaire.
Measured: Collected once during study day.
Testing for the presence of ectodysplasin A (EDA) gene mutations in a subset of subjects enrolled in this study.
Measured: Collected once during study day.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Apr 2010 (estimated)
- Study startJul 2010
- Primary completionJul 2010
- Study completionOct 2010
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Ectodermal DysplasiaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Enrolment
- 62 participants (actual)
Sponsor and investigators
- Lead sponsor
- Edimer Pharmaceuticals
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Dorothy K Grange, MD, Principal investigator, Washington University School of Medicine
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01108770
- Sponsor's protocol ID
- ECP-001
- Status last verified
- Aug 2012
- First submitted
- 21 Apr 2010
- Last updated
- 21 Aug 2012
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 21 Aug 2012. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Evaluation of Phenotypic and Genetic Properties in Male Subjects With Hypohidrotic Ectodermal Dysplasia and Their Family Members
- ClinicalTrials.gov ID
- NCT01108770
- Acronym / sponsor ID
- ECP-001
- Conditions
- Ectodermal Dysplasia
- Keywords
- HED, XLHED, Hypohidrotic Ectodermal Dysplasia
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 62 participants (actual)
- Lead sponsor
- Edimer PharmaceuticalsIndustry (pharma, biotech, devices)
- Study start
- Jul 2010
- Primary completion
- Jul 2010 (actual)
- Study completion
- Oct 2010 (actual)
- First posted
- 22 Apr 2010 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
To characterize skin properties in male subjects with HED
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.
Study design
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| HED affected males | – | – |
| Unaffected male controls | – | – |
Who may qualify
- Ages
- 1 year and older
- Sex
- Male only
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Male subjects with HED or unaffected controls
Key inclusion criteria (9 listed)
- Registered and attending the 2010 NFED Family Conference;
- One year of age or greater;
- Conform to one of the following requirements for providing informed consent:
- Subjects must meet one of the following criteria:
Key exclusion criteria (4 listed)
- 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 procedures of this protocol.
- Subjects with any major medical problem that will prevent them from participating in this study.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Characterization of skin properties in HED affected male subjects compared with healthy controls
Time frame: Two assessments conducted once during study day.
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.
2 secondary outcomes
Collecting demographic information and clinical status in male subjects affected by HED using a medical questionnaire.
Time frame: Collected once during study day.
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.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 21 Aug 2012.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Dorothy K Grange, MD principal investigator
Washington University School of Medicine
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Ectodermal Dysplasia, run by Edimer Pharmaceuticals at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 9 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 21 Aug 2012. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Characterization of skin properties in HED affected male subjects compared with healthy controls (time frame: Two assessments conducted once during study day.). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 21 Aug 2012.