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

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

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT01109290

Enrollment

Registered

2010-04-23

Start date

2010-04-30

Completion date

2011-06-30

Last updated

2011-09-14

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Hypohidrotic Ectodermal Dysplasia

Brief 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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

No minimum to 60 Years

Healthy volunteers

Yes

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

Countries

Germany

Outcome results