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

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.

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Key information

Conditions

Hypohidrotic Ectodermal Dysplasia Abnormalities, Multiple Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Ectodermal Dysplasia Ectodermal Dysplasia 1, Anhidrotic Genetic Diseases, Inborn Genetic Diseases, X-Linked Skin Abnormalities Skin Diseases Skin Diseases, Genetic Skin and Connective Tissue Diseases

Age range

Up to 60 year

Sex eligibility

All sexes

Study type

Observational

Primary location

University Hospital Erlangen

Erlangen, Bavaria, D-91054, Germany

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

for patients: hypohidrotic ectodermal dysplasia caused by mutations in the genes EDA or EDAR
written informed consent

Exclusion criteria

febrile disease
pregnancy or breastfeeding
implantable electronic devices, e.g. pacemaker
hypersensitivity to self-adhesive electrodes

Sponsors and collaborators

Lead sponsor

University Hospital Erlangen

Other

Collaborators

Edimer Pharmaceuticals

Registry information

Official study 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

Important dates

Study start: 2010
Primary completion: 2010
Study completion: 2011
First posted: Apr 23, 2010
Registry last updated: Sep 14, 2011

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

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This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed