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

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

27 participants

Study Classification

OBSERVATIONAL

Study Start Date

2011-02-28

Study Completion Date

2011-07-31

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.

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Detailed Description

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Conditions

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Hypohidrotic Ectodermal Dysplasia

Study Groups

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HED Affected Males

No interventions assigned to this group

Male Controls

No interventions assigned to this group

Eligibility Criteria

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Inclusion Criteria

1. Males age 14-29 years with clinical diagnosis of HED
2. No scalp shaving in the 6 months prior to enrollment
3. No current medical therapy for hair loss
4. Written informed consent for study and genotyping (or signed medical release of previous genetic test results)

Exclusion Criteria

1. Medically significant condition as determined by the PI
2. Known hypersensitivity to pilocarpine or pilocarpine-like muscarinic agonists (e.g. Urecholine, Salagen, Pilocar, Provocholine)
3. Presence of cardiac pacemaker

Minimum Eligible Age

14 Years

Maximum Eligible Age

29 Years

Eligible Sex

MALE

Accepts Healthy Volunteers

Yes