Hypohidrotic Ectodermal DysplasiaNCT01386775
Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia: Intrafamilial Variation
An observational study of Hypohidrotic Ectodermal Dysplasia, run by Edimer Pharmaceuticals at 1 site in United States.
Trial 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. 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
- Hypohidrotic Ectodermal Dysplasia
- How many people
- 64 participants
- Where
- 1 siteUnited States
- Study dates
- Jun 2011to Sep 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 1 year and older
- Men only
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Attendees of the National Foundation for Ectodermal Dysplasia's (NFED) 2011 Annual Family Conference
Who may be able to join
- 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.
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- 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.
Who cannot join
- Known hypersensitivity to pilocarpine or pilocarpine-like muscarinic agonists;
- Known hypersensitivity to lidocaine or lidocaine like agents;
- 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
Hilton Garden Inn St. Louis Shiloh/O'Fallon
O'Fallon, Illinois, 62269
About this study
Official title: Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia: Intrafamilial Variation
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).
Read the detailed description
This pilot study in affected 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). To this end, priority will be given to families that contain multiple affected siblings (i.e. two brothers). Summary data will be generated for the various groups tested, but no power calculations are involved.
- Conditions
- Hypohidrotic Ectodermal Dysplasia
- Keywords
- X-Linked Hypohidrotic Ectodermal Dysplasia, XLHED, Hypohidrotic Ectodermal Dysplasia, 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 | |
| Controls | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Day 1
Measured: Day of study conduct
Secondary outcomes (4)
Collecting demographic and clinical status information in male subjects affected by HED using a medical questionnaire
Study Day 1
Measured: Day of study conduct
Assessment of intrafamilial phenotypic variability in families with multiple HED-affected male siblings
Study Day 1 - Comparison of sweat duct counts, sweat rate and hair analysis among HED-affected male siblings
Measured: Day of study conduct
Evaluation of hair RNA profiles in samples from HED and unaffected male controls
Study Day 1 -This is a novel use of the RNASeq technology and will follow the protocol provided by an expert in the field, Dr. Benjamin Yu. The hairs will be cut not plucked from the occipital scalp, with 10-20 collected hairs placed in a regular mailing envelope. The hair-containing envelopes will be shipped to Dr. Yu's laboratory for processing and analysis.
Measured: Day of study conduct
Confirming the presence of ectodysplasin A (EDA) gene mutations in HED subjects enrolled in this study
Study Day 1
Measured: Day of study conduct
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted1 Jul 2011 (estimated)
- Study startJun 2011
- Primary completionJul 2011
- Study completionSep 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
- 64 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
- NCT01386775
- Sponsor's protocol ID
- ECP-007
- Status last verified
- Jun 2012
- First submitted
- 29 Jun 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: Intrafamilial Variation
- ClinicalTrials.gov ID
- NCT01386775
- Acronym / sponsor ID
- ECP-007
- Conditions
- Hypohidrotic Ectodermal Dysplasia
- Keywords
- X-Linked Hypohidrotic Ectodermal Dysplasia, XLHED, Hypohidrotic Ectodermal Dysplasia, HED
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 64 participants (actual)
- Lead sponsor
- Edimer PharmaceuticalsIndustry (pharma, biotech, devices)
- Study start
- Jun 2011
- Primary completion
- Jul 2011 (actual)
- Study completion
- Sep 2011 (actual)
- First posted
- 1 Jul 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.
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).
Detailed description
This pilot study in affected 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). To this end, priority will be given to families that contain multiple affected siblings (i.e. two brothers). Summary data will be generated for the various groups tested, but no power calculations are involved.
Study design
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| HED Affected Males | – | – |
| Controls | – | – |
Who may qualify
- Ages
- 1 year and older
- Sex
- Male only
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Attendees of the National Foundation for Ectodermal Dysplasia's (NFED) 2011 Annual Family Conference
Key inclusion criteria (9 listed)
- 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:
- As described in Section 3.2 above, subjects must meet one of the following criteria:
Key exclusion criteria (5 listed)
- Known hypersensitivity to pilocarpine or pilocarpine-like muscarinic agonists;
- Known hypersensitivity to lidocaine or lidocaine like agents;
- 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
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
Time frame: Day of study conduct
Day 1
4 secondary outcomes
Collecting demographic and clinical status information in male subjects affected by HED using a medical questionnaire
Time frame: Day of study conduct
Assessment of intrafamilial phenotypic variability in families with multiple HED-affected male siblings
Time frame: Day of study conduct
Evaluation of hair RNA profiles in samples from HED and unaffected male controls
Time frame: Day of study conduct
Confirming the presence of ectodysplasin A (EDA) gene mutations in HED subjects enrolled in this study
Time frame: Day of study conduct
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.
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 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 9 inclusion and 5 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?
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 (time frame: Day of study conduct). 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.