- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT01386775
Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia: Intrafamilial Variation
June 26, 2012 updated by: Edimer Pharmaceuticals
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).
Study Overview
Status
Completed
Conditions
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 Type
Observational
Enrollment (Actual)
64
Contacts and Locations
This section provides the contact details for those conducting the study, and information on where this study is being conducted.
Study Locations
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Illinois
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O'Fallon, Illinois, United States, 62269
- Hilton Garden Inn St. Louis Shiloh/O'Fallon
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Participation Criteria
Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.
Eligibility Criteria
Ages Eligible for Study
1 year and older (Child, Adult, Older Adult)
Accepts Healthy Volunteers
No
Genders Eligible for Study
Male
Sampling Method
Non-Probability Sample
Study Population
Attendees of the National Foundation for Ectodermal Dysplasia's (NFED) 2011 Annual Family Conference
Description
Inclusion Criteria:
- 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.
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.
Exclusion Criteria:
- 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.
Study Plan
This section provides details of the study plan, including how the study is designed and what the study is measuring.
How is the study designed?
Cohorts and Interventions
Group / Cohort |
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Controls
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HED Affected Males
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What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
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
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Day 1
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Day of study conduct
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Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Collecting demographic and clinical status information in male subjects affected by HED using a medical questionnaire
Time Frame: Day of study conduct
|
Study Day 1
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Day of study conduct
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Assessment of intrafamilial phenotypic variability in families with multiple HED-affected male siblings
Time Frame: Day of study conduct
|
Study Day 1 - Comparison of sweat duct counts, sweat rate and hair analysis among HED-affected male siblings
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Day of study conduct
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Evaluation of hair RNA profiles in samples from HED and unaffected male controls
Time Frame: Day of study conduct
|
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.
|
Day of study conduct
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Confirming the presence of ectodysplasin A (EDA) gene mutations in HED subjects enrolled in this study
Time Frame: Day of study conduct
|
Study Day 1
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Day of study conduct
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Collaborators and Investigators
This is where you will find people and organizations involved with this study.
Sponsor
Study record dates
These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.
Study Major Dates
Study Start
June 1, 2011
Primary Completion (Actual)
July 1, 2011
Study Completion (Actual)
September 1, 2011
Study Registration Dates
First Submitted
June 29, 2011
First Submitted That Met QC Criteria
June 30, 2011
First Posted (Estimate)
July 1, 2011
Study Record Updates
Last Update Posted (Estimate)
June 28, 2012
Last Update Submitted That Met QC Criteria
June 26, 2012
Last Verified
June 1, 2012
More Information
Terms related to this study
Additional Relevant MeSH Terms
Other Study ID Numbers
- ECP-007
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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