Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia: Intrafamilial Variation

Hypohidrotic Ectodermal Dysplasia Clinical Trial

Official title: Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia: Intrafamilial Variation

Status Completed

Clinical Trial Summary

This study in affected Hypohidrotic Ectodermal Dysplasia (HED) males and unaffected male controls, age 1 year and up, will use minimally invasive devices to image sweat ducts in intact skin, to measure stimulated sweat rate, and in a subset of subjects to collect clipped scalp hair samples for RNA analysis. This study is descriptive in nature and is intended to assess the ability to use innovative approaches to generate data from subjects over a wide age spectrum, with particular emphasis on phenotype variability between male siblings (same mutation).

Clinical Trial Description

This pilot study in affected HED males and unaffected male controls, age 1 year and up, will use minimally invasive devices to image sweat ducts in intact skin, to measure stimulated sweat rate, and in a subset of subjects to collect clipped scalp hair samples for RNA analysis. This study is descriptive in nature and is intended to assess the ability to use innovative approaches to generate data from subjects over a wide age spectrum, with particular emphasis on phenotype variability between male siblings (same mutation). To this end, priority will be given to families that contain multiple affected siblings (i.e. two brothers). Summary data will be generated for the various groups tested, but no power calculations are involved. ;

Study Design

N/A

Related Conditions & MeSH terms

• Ectodermal Dysplasia
• Hypohidrotic Ectodermal Dysplasia

• NCT number: NCT01386775
• Study type: Observational
• Source: Edimer Pharmaceuticals
• Status: Completed
• Phase: N/A
• Start date: June 2011
• Completion date: September 2011