Brief Title
Characterization of Sweat Gland Function in Patients With Recessively Inherited Hypohidrotic Ectodermal Dysplasia
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
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.
Study Type
Observational
Condition
Hypohidrotic Ectodermal Dysplasia
Study Arms / Comparison Groups
HED children
Description:
Publications
* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.
Recruitment Information
Estimated Enrollment
65
Start Date
April 2010
Completion Date
June 2011
Primary Completion Date
August 2010
Eligibility Criteria
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
Gender
All
Ages
N/A - 60 Years
Accepts Healthy Volunteers
Accepts Healthy Volunteers
Contacts
Holm Schneider, MD, ,
Location Countries
Germany
Location Countries
Germany
Administrative Informations
NCT ID
NCT01109290
Organization ID
ED10
Responsible Party
Principal Investigator
Study Sponsor
University Hospital Erlangen
Collaborators
Edimer Pharmaceuticals
Study Sponsor
Holm Schneider, MD, Principal Investigator, University Hospital Erlangen
Verification Date
September 2011