NCT01108770

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

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

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 62 (actual)
• Sponsor: Edimer Pharmaceuticals · Industry
• Sex: Male
• Age: 1 Year
• Healthy volunteers: Accepted

Summary

To characterize skin properties in male subjects with HED

Detailed description

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.

Conditions

• Ectodermal Dysplasia

Timeline

• Start date: 2010-07-01
• Primary completion: 2010-07-01
• Completion: 2010-10-01
• First posted: 2010-04-22
• Last updated: 2012-08-21

Locations

1 site across 1 country: United States