NCT01386775

Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia: Intrafamilial Variation

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

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 64 (actual)
• Sponsor: Edimer Pharmaceuticals · Industry
• Sex: Male
• Age: 1 Year
• Healthy volunteers: Accepted

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).

Detailed 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.

Conditions

• Hypohidrotic Ectodermal Dysplasia

Timeline

• Start date: 2011-06-01
• Primary completion: 2011-07-01
• Completion: 2011-09-01
• First posted: 2011-07-01
• Last updated: 2012-06-28

Locations

1 site across 1 country: United States