Investigation of Chronic Inflammatory Processes in Male Individuals With Hypohidrotic Ectodermal Dysplasia
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ClinicalTrials.gov Identifier: NCT01308333
Recruitment Status :
First Posted : March 4, 2011
Last Update Posted : January 8, 2014
University Hospital Erlangen
Information provided by (Responsible Party):
Prof. Dr. Holm Schneider, University Hospital Erlangen
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.
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Layout table for eligibility information
Ages Eligible for Study:
6 Years to 60 Years (Child, Adult)
Sexes Eligible for Study:
Accepts Healthy Volunteers:
subjects with X-linked hypohidrotic ectodermal dysplasia (XLHED) and healthy controls
for patients: X-linked hypohidrotic ectodermal dysplasia caused by mutations in the gene EDA