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

Completed

• Conditions: X-linked Hypohidrotic Ectodermal Dysplasia

• Registration Number: NCT01308333
• Lead Sponsor: University Hospital Erlangen

Brief 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.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2011-03-03
• Study First Submitted QC: 2011-03-03
• Study First Posted: 2011-03-04
• Study Start: 2011-04
• Primary Completion: 2011-11
• Study Completion: 2011-11
• Status Verified: 2014-01
• Last Update Submitted: 2014-01-07
• Last Update Posted: 2014-01-08

Recruitment & Eligibility

• Status: COMPLETED
• Sex: Male
• Target Recruitment: 38

Inclusion Criteria

• for patients: X-linked hypohidrotic ectodermal dysplasia caused by mutations in the gene EDA
• written informed consent

Exclusion Criteria

• acute respiratory disease
• acute allergic problem, e.g. allergic coryza
• implantable electronic devices, e.g. pacemaker

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Trial Locations

Locations (1)

University Hospital Erlangen, Competence Centre for Children with Ectodermal Dysplasias; 🇩🇪 Erlangen, Bavaria, Germany