NCT01629927

Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia (ECP-012)

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 30 (actual)
• Sponsor: Edimer Pharmaceuticals · Industry
• Sex: Male
• Age: 1 Year
• Healthy volunteers: Accepted

Summary

The study proposes to enroll male subjects affected by Hypohidrotic Ectodermal Dysplasia (XLHED). The sweat duct images will be acquired with a CE marked skin-imaging device and the sweat rate will be measured using a CE marked pilocarpine iontophoresis and collection system. The technologies for both imaging of sweat ducts and the measurement of maximal sweat rate have been used safely and without adverse events in our prior studies involving HED/XLHED subjects. Furthermore, this study will assess the feasibility of developing a non-invasive screening tool that will enable detection of clinical signs of XLHED based on an analysis of a two dimensional frontal photograph.

Detailed description

The study proposes to enroll male subjects affected by XLHED (determined by genetic testing and restricted to age \> 1 yr). The sweat duct images will be acquired with a CE marked skin-imaging device and the sweat rate will be measured using a CE marked pilocarpine iontophoresis and collection system. The technologies for both imaging of sweat ducts and the measurement of maximal sweat rate have been used safely and without adverse events in our prior studies involving HED/XLHED subjects. Furthermore, this study will assess the feasibility of developing a non-invasive screening tool that will enable detection of clinical signs of XLHED based on an analysis of a two dimensional frontal photograph.

Conditions

• X-linked Hypohidrotic Ectodermal Dysplasia
• Hypohidrotic Ectodermal Dysplasia

Timeline

• Start date: 2012-03-01
• Primary completion: 2012-04-01
• Completion: 2012-06-01
• First posted: 2012-06-28
• Last updated: 2012-06-28

Locations

1 site across 1 country: Spain