Clinical Trial: Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia

Study Status: Completed
Recruit Status: Completed
Study Type: Observational

Official Title: Evaluation of Phenotypic and Genetic Properties in Male Subjects With Hypohidrotic Ectodermal Dysplasia and Their Family Members

Brief Summary: To characterize skin properties in male subjects with HED

Detailed Summary:

This study is designed to obtain information from male subjects with HED and unaffected male control subjects. The study will consist of the standardized collection of data from HED medical history questionnaires and non-invasive tests. A subset of subjects will undergo genetic testing. All data will be collected from families attending the 2010 NFED Family Conference, July 22-24, 2010, in Colorado Springs, CO.

Since HED is a rare disease, it is difficult to obtain reliable data on a sufficient number of subjects in any one region. The NFED Family Conference is a location where families affected with HED come together, and therefore, presents an ideal location to obtain data needed to design future studies. As the procedures are non-invasive and are designed to take a relatively short period of time, subjects can participate in this study while attending the NFED Family Conference.


Sponsor: Edimer Pharmaceuticals

Current Primary Outcome: Characterization of skin properties in HED affected male subjects compared with healthy controls [ Time Frame: Two assessments conducted once during study day. ]

The primary objective of this descriptive study is to 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 glands and the rate of sweating.


Original Primary Outcome:

Current Secondary Outcome:

  • Collecting demographic information and clinical status in male subjects affected by HED using a medical questionnaire. [ Time Frame: Collected once during study day. ]
  • Testing for the presence of ectodysplasin A (EDA) gene mutations in a subset of subjects enrolled in this study. [ Time Frame: Collected once during study day. ]


Original Secondary Outcome:

Information By: Edimer Pharmaceuticals

Dates:
Date Received: April 21, 2010
Date Started: July 2010
Date Completion:
Last Updated: August 20, 2012
Last Verified: August 2012