NCT01308333

Investigation of Chronic Inflammatory Processes in Male Individuals With Hypohidrotic Ectodermal Dysplasia

Investigation of Chronic Inflammatory Processes in the Respiratory Tract and the Eyes of Male Individuals With X-linked Hypohidrotic Ectodermal Dysplasia

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 38 (actual)
• Sponsor: University Hospital Erlangen · Academic / Other
• Sex: Male
• Age: 6 Years – 60 Years
• Healthy volunteers: Accepted

Summary

X-linked hypohidrotic ectodermal dysplasia (XLHED) is a complex genetic disorder characterized by lack of sweat, sebaceous, submucous, Meibomian and mammary glands, sparse hair and eyebrows, and oligodontia. Insufficient function of the respective glands may lead to chronic inflammatory processes in airways and eyes of the affected individuals. The investigators will quantify sweat glands of XLHED patients, assess chronic conjunctivitis and blepharitis in conjunction with quantitative and/or qualitative alterations of lacrimal fluid in these subjects, evaluate lung function and assess chronic inflammatory processes in the airways by NO measurements. The data should provide a basis for genotype-phenotype correlations.

Conditions

• X-linked Hypohidrotic Ectodermal Dysplasia

Timeline

• Start date: 2011-04-01
• Primary completion: 2011-11-01
• Completion: 2011-11-01
• First posted: 2011-03-04
• Last updated: 2014-01-08

Locations

1 site across 1 country: Germany