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