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

This study has been completed.
Edimer Pharmaceuticals
Information provided by (Responsible Party):
Prof. Dr. Holm Schneider, University Hospital Erlangen Identifier:
First received: April 21, 2010
Last updated: September 13, 2011
Last verified: September 2011
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.

Hypohidrotic Ectodermal Dysplasia

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
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

Resource links provided by NLM:

Further study details as provided by Prof. Dr. Holm Schneider, University Hospital Erlangen:

Enrollment: 65
Study Start Date: April 2010
Study Completion Date: June 2011
Primary Completion Date: August 2010 (Final data collection date for primary outcome measure)
HED children
HED adults
Control children
Control adults


Ages Eligible for Study:   up to 60 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
subjects with recessively inherited hypohidrotic ectodermal dysplasia (HED), their heterozygous family members and healthy controls

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
  Contacts and Locations
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Please refer to this study by its identifier: NCT01109290

University Hospital Erlangen
Erlangen, Bavaria, Germany, D-91054
Sponsors and Collaborators
University Hospital Erlangen
Edimer Pharmaceuticals
Principal Investigator: Holm Schneider, MD University Hospital Erlangen
  More Information

Responsible Party: Prof. Dr. Holm Schneider, Head of the Division of Molecular Pediatrics, University Hospital Erlangen Identifier: NCT01109290     History of Changes
Other Study ID Numbers: ED10
Study First Received: April 21, 2010
Last Updated: September 13, 2011

Additional relevant MeSH terms:
Ectodermal Dysplasia
Ectodermal Dysplasia 1, Anhidrotic
Abnormalities, Multiple
Congenital Abnormalities
Skin Abnormalities
Skin Diseases, Genetic
Genetic Diseases, Inborn
Skin Diseases
Genetic Diseases, X-Linked processed this record on September 19, 2017