Hypohidrotic Ectodermal DysplasiaNCT01293565
Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected by Hypohidrotic Ectodermal Dysplasia - A
An observational study of Hypohidrotic Ectodermal Dysplasia, run by Edimer Pharmaceuticals at 1 site in United States.
Trial summary
The overall purpose of this study is to learn more about Hypohidrotic Ectodermal Dysplasia (HED) and to help in identifying treatment opportunities. Several evaluations will be conducted in this study: 1) the number of skin sweat glands you have and their ability to produce sweat; 2) your ability to grow hair; 3) the… Read more about this study
- Who is it for?
- Ages 14 to 29 years, men onlyHealthy volunteers can take part
- Conditions the study is for
- Hypohidrotic Ectodermal Dysplasia
- How many people
- 27 participants
- Where
- 1 siteUnited States
- Study dates
- Feb 2011to Jul 2011
- 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 14 to 29 years
- Men only
- Healthy volunteers accepted
- Child, Adult
Study population: HED Affected Members of the UCSF Craniofacial Clinic, HED Affected Members of the National Foundation for Ectodermal Dysplasia
Who may be able to join
- Males age 14-29 years with clinical diagnosis of HED
- No scalp shaving in the 6 months prior to enrollment
- No current medical therapy for hair loss
- Written informed consent for study and genotyping (or signed medical release of previous genetic test results)
Who cannot join
- Medically significant condition as determined by the PI
- Known hypersensitivity to pilocarpine or pilocarpine-like muscarinic agonists (e.g. Urecholine, Salagen, Pilocar, Provocholine)
- Presence of cardiac pacemaker
Trial locations and contacts
1 site in 1 country.
United States1 site
University of California
San Francisco, California, 94143
About this study
Official title: Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected by Hypohidrotic Ectodermal Dysplasia
The overall purpose of this study is to learn more about Hypohidrotic Ectodermal Dysplasia (HED) and to help in identifying treatment opportunities. Several evaluations will be conducted in this study: 1) the number of skin sweat glands you have and their ability to produce sweat; 2) your ability to grow hair; 3) the structure of your face compared to faces of people affected by HED; 4) molds of your teeth to see if and how they are different than people affected by HED.
- Conditions
- Hypohidrotic Ectodermal Dysplasia
- Keywords
- X-Linked Hypohidrotic Ectodermal Dysplasia, Hypohidrotic Ectodermal Dysplasia, XLHED, HED
- Medical subject headings
- 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 | |
| Male Controls | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
To assess the hair follicle density and percent anagen hairs in the scalp of HED/XLHED males and unaffected controls
Measured: Day 1 and Day 3-4
To assess the palmar sweat duct number using confocal microscopy in HED/XLHED males and unaffected controls
Measured: Day 1
To evaluate 3-dimensional imaging technology without radiation exposure for mapping craniofacial development in HED/XLHED males and unaffected controls
Measured: Day 1
To use teeth impressions to construct 3-dimensional dental models for detailed evaluation of abnormalities present in HED/XLHED males (not for controls)
Measured: Day 1
To determine the presence or absence of EDA gene mutations/deletions in males with a clinical diagnosis of HED (not for controls)
Measured: Day 1
To assess by medical history the prevalence of medical complications in HED/XLHED males and unaffected controls
Measured: Day 1
To assess the pilocarpine-stimulated sweat rate on the volar surface of the forearm following pilocarpine iontophoresis in HED/XLHED males and unaffected controls, and to correlate with heat-stimulated sweat test classification
Measured: Day 1
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Feb 2011 (estimated)
- Study startFeb 2011
- Primary completionMay 2011
- Study completionJul 2011
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Hypohidrotic 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
- 27 participants (actual)
Sponsor and investigators
- Lead sponsor
- Edimer Pharmaceuticals
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Ophir Klein, MD, PhD, Principal investigator, University of California, San Francisco
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01293565
- Sponsor's protocol ID
- ECP-003
- Status last verified
- Jun 2012
- First submitted
- 9 Feb 2011
- Last updated
- 28 Jun 2012
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 28 Jun 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 Affected by Hypohidrotic Ectodermal Dysplasia
- ClinicalTrials.gov ID
- NCT01293565
- Acronym / sponsor ID
- ECP-003
- Conditions
- Hypohidrotic Ectodermal Dysplasia
- Keywords
- X-Linked Hypohidrotic Ectodermal Dysplasia, Hypohidrotic Ectodermal Dysplasia, XLHED, HED
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 27 participants (actual)
- Lead sponsor
- Edimer PharmaceuticalsIndustry (pharma, biotech, devices)
- Study start
- Feb 2011
- Primary completion
- May 2011 (actual)
- Study completion
- Jul 2011 (actual)
- First posted
- 10 Feb 2011 (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.
The overall purpose of this study is to learn more about Hypohidrotic Ectodermal Dysplasia (HED) and to help in identifying treatment opportunities. Several evaluations will be conducted in this study: 1) the number of skin sweat glands you have and their ability to produce sweat; 2) your ability to grow hair; 3) the structure of your face compared to faces of people affected by HED; 4) molds of your teeth to see if and how they are different than people affected by HED.
Study design
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| HED Affected Males | – | – |
| Male Controls | – | – |
Who may qualify
- Ages
- 14 to 29 years
- Sex
- Male only
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult
- Study population
- HED Affected Members of the UCSF Craniofacial Clinic, HED Affected Members of the National Foundation for Ectodermal Dysplasia
Key inclusion criteria (4 listed)
- Males age 14-29 years with clinical diagnosis of HED
- No scalp shaving in the 6 months prior to enrollment
- No current medical therapy for hair loss
- Written informed consent for study and genotyping (or signed medical release of previous genetic test results)
Key exclusion criteria (3 listed)
- Medically significant condition as determined by the PI
- Known hypersensitivity to pilocarpine or pilocarpine-like muscarinic agonists (e.g. Urecholine, Salagen, Pilocar, Provocholine)
- Presence of cardiac pacemaker
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
To assess the hair follicle density and percent anagen hairs in the scalp of HED/XLHED males and unaffected controls
Time frame: Day 1 and Day 3-4
To assess the palmar sweat duct number using confocal microscopy in HED/XLHED males and unaffected controls
Time frame: Day 1
To evaluate 3-dimensional imaging technology without radiation exposure for mapping craniofacial development in HED/XLHED males and unaffected controls
Time frame: Day 1
To use teeth impressions to construct 3-dimensional dental models for detailed evaluation of abnormalities present in HED/XLHED males (not for controls)
Time frame: Day 1
To determine the presence or absence of EDA gene mutations/deletions in males with a clinical diagnosis of HED (not for controls)
Time frame: Day 1
To assess by medical history the prevalence of medical complications in HED/XLHED males and unaffected controls
Time frame: Day 1
To assess the pilocarpine-stimulated sweat rate on the volar surface of the forearm following pilocarpine iontophoresis in HED/XLHED males and unaffected controls, and to correlate with heat-stimulated sweat test classification
Time frame: Day 1
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 28 Jun 2012.
Related trials for Hypohidrotic Ectodermal Dysplasia
RecruitingPhase 2
Intraamniotic Administrations of ER004 to Male Subjects With X-linked Hypohidrotic Ectodermal Dysplasia
X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED)
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.
Ophir Klein, MD, PhD principal investigator
University of California, San Francisco
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 Hypohidrotic 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 4 inclusion and 3 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 28 Jun 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?
To assess the hair follicle density and percent anagen hairs in the scalp of HED/XLHED males and unaffected controls (time frame: Day 1 and Day 3-4). The study lists 7 primary outcomes in all. 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 28 Jun 2012.