Characterization of Sweat Gland Function in Patients With Recessively Inherited Hypohidrotic Ectodermal Dysplasia
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ClinicalTrials.gov Identifier: NCT01109290
Recruitment Status :
First Posted : April 23, 2010
Last Update Posted : September 14, 2011
University Hospital Erlangen
Information provided by (Responsible Party):
Prof. Dr. Holm Schneider, University Hospital Erlangen
Hypohidrotic ectodermal dysplasia (HED) is a complex genetic disorder characterized by lack of sweat glands, sparse hair, and missing or malformed teeth. Inability to sweat may result in episodes of severe hyperthermia and cause sudden infant death. To assess sweat gland function in HED patients, the investigators will first quantify gland pores in a defined area of the palm and then stimulate the glands by pilocarpine followed by sweat collection in a special capillary for volume determination. This will be combined with non-invasive skin conductance measurement prior and subsequent to stimulation of the sympathetic nervous system. The data should provide a basis for genotype-phenotype correlation.
Validation of Non-invasive Technologies for the Characterization of Sweat Gland Function in Patients With Recessively Inherited Hypohidrotic Ectodermal Dysplasia, Their Heterozygous Family Members and Healthy Controls
Study Start Date :
Actual Primary Completion Date :
Actual Study Completion Date :
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Ages Eligible for Study:
up to 60 Years (Child, Adult)
Sexes Eligible for Study:
Accepts Healthy Volunteers:
subjects with recessively inherited hypohidrotic ectodermal dysplasia (HED), their heterozygous family members and healthy controls
for patients: hypohidrotic ectodermal dysplasia caused by mutations in the genes EDA or EDAR