Back to resultsMale Subjects Affected By Hypohidrotic Ectodermal Dysplasia: Intrafamilial Variation
Primary Purpose
Hypohidrotic Ectodermal Dysplasia
Status
Completed
Phase
Locations
United States
Study Type
Observational
Intervention
Sponsored by
About this trial
This is an observational trial for Hypohidrotic Ectodermal Dysplasia focused on measuring X-Linked Hypohidrotic Ectodermal Dysplasia, XLHED, Hypohidrotic Ectodermal Dysplasia, HED
Eligibility Criteria
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.
Sites / Locations
- Hilton Garden Inn St. Louis Shiloh/O'Fallon
Arms of the Study
Arm 1
Arm 2
Arm Type
Arm Label
HED Affected Males
Controls
Arm Description
Outcomes
Primary Outcome Measures
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
Secondary Outcome Measures
Collecting demographic and clinical status information in male subjects affected by HED using a medical questionnaire
Study Day 1
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
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.
Confirming the presence of ectodysplasin A (EDA) gene mutations in HED subjects enrolled in this study
Study Day 1
Full Information
1. Study Identification
Unique Protocol Identification Number
NCT01386775
Brief Title
Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia: Intrafamilial Variation
Official Title
Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia: Intrafamilial Variation
Study Type
Observational
2. Study Status
Record Verification Date
June 2012
Overall Recruitment Status
Completed
Study Start Date
June 2011 (undefined)
Primary Completion Date
July 2011 (Actual)
Study Completion Date
September 2011 (Actual)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Sponsor
Name of the Sponsor
Edimer Pharmaceuticals
4. Oversight
Data Monitoring Committee
No
5. Study Description
Brief 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. 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.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Hypohidrotic Ectodermal Dysplasia
Keywords
X-Linked Hypohidrotic Ectodermal Dysplasia, XLHED, Hypohidrotic Ectodermal Dysplasia, HED
7. Study Design
Enrollment
64 (Actual)
8. Arms, Groups, and Interventions
Arm Title
HED Affected Males
Arm Title
Controls
Primary Outcome Measure Information:
Title
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
Description
Day 1
Time Frame
Day of study conduct
Secondary Outcome Measure Information:
Title
Collecting demographic and clinical status information in male subjects affected by HED using a medical questionnaire
Description
Study Day 1
Time Frame
Day of study conduct
Title
Assessment of intrafamilial phenotypic variability in families with multiple HED-affected male siblings
Description
Study Day 1 - Comparison of sweat duct counts, sweat rate and hair analysis among HED-affected male siblings
Time Frame
Day of study conduct
Title
Evaluation of hair RNA profiles in samples from HED and unaffected male controls
Description
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.
Time Frame
Day of study conduct
Title
Confirming the presence of ectodysplasin A (EDA) gene mutations in HED subjects enrolled in this study
Description
Study Day 1
Time Frame
Day of study conduct
10. Eligibility
Sex
Male
Minimum Age & Unit of Time
1 Year
Accepts Healthy Volunteers
Accepts Healthy Volunteers
Eligibility Criteria
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 Population Description
Attendees of the National Foundation for Ectodermal Dysplasia's (NFED) 2011 Annual Family Conference
Sampling Method
Non-Probability Sample
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Dorothy K Grange, MD
Organizational Affiliation
Washington University School of Medicine
Official's Role
Principal Investigator
Facility Information:
Facility Name
Hilton Garden Inn St. Louis Shiloh/O'Fallon
City
O'Fallon
State/Province
Illinois
ZIP/Postal Code
62269
Country
United States
12. IPD Sharing Statement
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Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia: Intrafamilial Variation
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