Characterization of Sweat Gland Function in Patients With Recessively Inherited Hypohidrotic Ectodermal Dysplasia

Hypohidrotic Ectodermal Dysplasia Clinical Trial

Official title:
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

Status Completed

Clinical Trial Summary

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.

Clinical Trial Description

n/a

Study Design

Observational Model: Cohort, Time Perspective: Prospective

Related Conditions & MeSH terms

Ectodermal Dysplasia
Hypohidrotic Ectodermal Dysplasia

Clinical Trial Details

NCT number	NCT01109290
Study type	Observational
Source	University Hospital Erlangen
Contact
Status	Completed
Phase	N/A
Start date	April 2010
Completion date	June 2011

View Details

See also
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