Clinical Trial: Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected by Hypohidrotic Ectodermal Dysplasia - A
Study Status: Completed
Recruit Status: Completed
Study Type: Observational
Official Title: Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected by Hypohidrotic Ectodermal Dysplasia
Brief Summary: 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.
Detailed Summary:
Sponsor: Edimer Pharmaceuticals
Current Primary Outcome:
- To assess the hair follicle density and percent anagen hairs in the scalp of HED/XLHED males and unaffected controls [ Time Frame: Day 1 and Day 3-4 ]
- To assess the palmar sweat duct number using confocal microscopy in HED/XLHED males and unaffected controls [ Time Frame: Day 1 ]
- To evaluate 3-dimensional imaging technology without radiation exposure for mapping craniofacial development in HED/XLHED males and unaffected controls [ Time Frame: 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) [ Time Frame: Day 1 ]
- To determine the presence or absence of EDA gene mutations/deletions in males with a clinical diagnosis of HED (not for controls) [ Time Frame: Day 1 ]
- To assess by medical history the prevalence of medical complications in HED/XLHED males and unaffected controls [ Time Frame: 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 [ Time Frame: Day 1 ]
Original Primary Outcome: Same as current
Current Secondary Outcome:
Original Secondary Outcome:
Information By: Edimer Pharmaceuticals
Dates:
Date Received: February 9, 2011
Date Started: February 2011
Date Completion:
Last Updated: June 26, 2012
Last Verified: June 2012