Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected by Hypohidrotic Ectodermal Dysplasia - A

Study Overview
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Brief Summary
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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.

Official Title
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Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected by Hypohidrotic Ectodermal Dysplasia

Conditions
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Hypohidrotic Ectodermal Dysplasia

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: 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) Exclusion Criteria: 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

Ages Eligible for Study
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Minimum Age: 14 Years
Maximum Age: 29 Years

Sexes Eligible for Study
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Male

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| HED Affected Males<br> | |
| Male Controls<br> | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| To assess the hair follicle density and percent anagen hairs in the scalp of HED/XLHED males and unaffected controls |  | Day 1 and Day 3-4 | 
| To assess the palmar sweat duct number using confocal microscopy in HED/XLHED males and unaffected controls |  | Day 1 | 
| To evaluate 3-dimensional imaging technology without radiation exposure for mapping craniofacial development in HED/XLHED males and unaffected controls |  | 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) |  | Day 1 | 
| To determine the presence or absence of EDA gene mutations/deletions in males with a clinical diagnosis of HED (not for controls) |  | Day 1 | 
| To assess by medical history the prevalence of medical complications in HED/XLHED males and unaffected controls |  | 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 |  | Day 1 | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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X-Linked Hypohidrotic Ectodermal Dysplasia, Hypohidrotic Ectodermal Dysplasia, XLHED, HED